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Gene: PIGN (phosphatidylinositol glycan anchor biosynthesis class N) Homo sapiens

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Symbol:

PIGN

Name:

phosphatidylinositol glycan anchor biosynthesis class N

RGD ID:

1322753

HGNC Page

HGNC:8967

Description:

Predicted to enable mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Located in cytosol and plasma membrane. Implicated in multiple congenital anomalies-hypotonia-seizures syndrome 1.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GPI ethanolamine phosphate transferase 1; LOC105372158; MCAHS; MCAHS1; MCD4; MCD4 homolog; MDC4; MGC26427; phosphatidylinositol glycan anchor biosynthesis, class N; phosphatidylinositol glycan, class n; phosphatidylinositol-glycan biosynthesis class N protein; PIG-N; uncharacterized LOC105372158

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	62,017,615 - 62,187,056 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	61,905,255 - 62,187,118 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	59,708,397 - 59,854,289 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	57,862,437 - 58,005,269 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	57,862,439 - 58,005,206	NCBI
Celera	18	56,430,705 - 56,573,517 (-)	NCBI		Celera
Cytogenetic Map	18	q21.33	NCBI
HuRef	18	56,421,823 - 56,565,179 (-)	NCBI		HuRef
CHM1_1	18	59,707,055 - 59,849,802 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	18	62,220,799 - 62,389,993 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	chromosome 18q deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Monosomy 18q and deletion 18q	ClinVar	PMID:25741868
PIGN	Human	chromosome 18q deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Monosomy 18q and deletion 18q	ClinVar	PMID:31690835
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
PIGN	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
PIGN	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
PIGN	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:16199547 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24033266 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24253414 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:26467025 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:26467025 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:16199547 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24253414 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
PIGN	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:26467025 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:26467025 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 and PMID:36322149
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:17576681 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24033266 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:33619735
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:17576681 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 and PMID:32220244
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:27891564 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:17576681 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 and PMID:30709774
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:17576681 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:26467025 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 and PMID:35179230
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:21493957 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:21493957 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:26633542 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:10677500 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:26394714 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:16199547 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:34906502
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:24253414 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28273706 and PMID:28492532
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:26394714
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:26364997
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:26467025 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532 and PMID:29330547
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:26394714 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:25741868 more ...
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:17576681 more ...
PIGN	Human	schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	Animal Disease Models		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:27602772
PIGN	Human	lung adenocarcinoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:27602772

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	holoprosencephaly		ISS	Pign (Mus musculus)	13592920		MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	choreatic disease		ISO	PIGN (Canis lupus familiaris)	9068941	Dyskinesia more ...	OMIA	PMID:15474685 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	1,2-dimethylhydrazine	decreases expression	ISO	Pign (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of PIGN mRNA	CTD	PMID:22206623
PIGN	Human	17beta-estradiol	increases expression	ISO	Pign (Rattus norvegicus)	6480464	Estradiol results in increased expression of PIGN mRNA	CTD	PMID:32145629
PIGN	Human	2,2',5,5'-tetrachlorobiphenyl	decreases expression	EXP		6480464	2 more ...	CTD	PMID:36804509
PIGN	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Pign (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of PIGN mRNA	CTD	PMID:21570461
PIGN	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of PIGN mRNA	CTD	PMID:33387578
PIGN	Human	2,3,7,8-Tetrachlorodibenzofuran	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:32109520
PIGN	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PIGN mRNA	CTD	PMID:30851411
PIGN	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of PIGN mRNA	CTD	PMID:21179406
PIGN	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	Pign (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of PIGN mRNA	CTD	PMID:18648102
PIGN	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	Pign (Mus musculus)	6480464	bisphenol S results in decreased expression of PIGN mRNA	CTD	PMID:39298647
PIGN	Human	acetamide	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	acetamide results in decreased expression of PIGN mRNA	CTD	PMID:31881176
PIGN	Human	acrolein	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of and results in increased oxidation of PIGN mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in decreased expression of and results in increased oxidation of PIGN mRNA	CTD	PMID:32699268
PIGN	Human	acrylamide	increases expression	ISO	Pign (Rattus norvegicus)	6480464	Acrylamide results in increased expression of PIGN mRNA	CTD	PMID:28959563
PIGN	Human	aflatoxin B1	increases expression	ISO	Pign (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of PIGN mRNA	CTD	PMID:19770486
PIGN	Human	alpha-pinene	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of and results in increased oxidation of PIGN mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in decreased expression of and results in increased oxidation of PIGN mRNA	CTD	PMID:32699268
PIGN	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of PIGN mRNA	CTD	PMID:33212167
PIGN	Human	bisphenol A	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of PIGN mRNA	CTD	PMID:25181051 more ...
PIGN	Human	bisphenol A	increases expression	ISO	Pign (Mus musculus)	6480464	bisphenol A results in increased expression of PIGN mRNA	CTD	PMID:35598803
PIGN	Human	bisphenol A	decreases expression	ISO	Pign (Mus musculus)	6480464	bisphenol A results in decreased expression of PIGN mRNA	CTD	PMID:37894381
PIGN	Human	bisphenol A	increases expression	ISO	Pign (Rattus norvegicus)	6480464	bisphenol A results in increased expression of PIGN mRNA	CTD	PMID:32145629
PIGN	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of PIGN mRNA	CTD	PMID:26079696
PIGN	Human	chlorpyrifos	decreases expression	ISO	Pign (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of PIGN mRNA	CTD	PMID:37019170
PIGN	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of PIGN mRNA	CTD	PMID:19549813
PIGN	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of PIGN mRNA	CTD	PMID:20106945 and PMID:25562108
PIGN	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of PIGN mRNA	CTD	PMID:28302478
PIGN	Human	endosulfan	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	Endosulfan results in decreased expression of PIGN mRNA	CTD	PMID:29391264
PIGN	Human	epoxiconazole	decreases expression	ISO	Pign (Mus musculus)	6480464	epoxiconazole results in decreased expression of PIGN mRNA	CTD	PMID:35436446
PIGN	Human	folic acid	increases expression	ISO	Pign (Mus musculus)	6480464	Folic Acid results in increased expression of PIGN mRNA	CTD	PMID:25629700
PIGN	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of PIGN mRNA	CTD	PMID:23649840
PIGN	Human	gentamycin	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of PIGN mRNA	CTD	PMID:33387578
PIGN	Human	glyphosate	increases expression	ISO	Pign (Mus musculus)	6480464	Glyphosate results in increased expression of PIGN mRNA	CTD	PMID:35897073
PIGN	Human	methoxychlor	affects methylation	ISO	Pign (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of PIGN gene	CTD	PMID:35440735
PIGN	Human	ozone	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of and results in increased oxidation of PIGN mRNA more ...	CTD	PMID:32699268
PIGN	Human	ozone	multiple interactions	ISO	Pign (Mus musculus)	6480464	[Air Pollutants results in increased abundance of Ozone] which results in increased expression of PIGN mRNA	CTD	PMID:34911549
PIGN	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of PIGN mRNA	CTD	PMID:29067470
PIGN	Human	quercetin	decreases expression	EXP		6480464	Quercetin results in decreased expression of PIGN mRNA	CTD	PMID:21632981
PIGN	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PIGN mRNA	CTD	PMID:30851411
PIGN	Human	raloxifene	increases expression	ISO	Pign (Mus musculus)	6480464	Raloxifene Hydrochloride results in increased expression of PIGN mRNA	CTD	PMID:22841776
PIGN	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PIGN protein	CTD	PMID:30528433
PIGN	Human	sodium fluoride	increases expression	ISO	Pign (Mus musculus)	6480464	Sodium Fluoride results in increased expression of PIGN mRNA	CTD	PMID:27862939
PIGN	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of PIGN mRNA	CTD	PMID:31533062
PIGN	Human	tamoxifen	increases expression	ISO	Pign (Mus musculus)	6480464	Tamoxifen results in increased expression of PIGN mRNA	CTD	PMID:22841776
PIGN	Human	tert-butyl hydroperoxide	decreases expression	EXP		6480464	tert-Butylhydroperoxide results in decreased expression of PIGN mRNA	CTD	PMID:15336504
PIGN	Human	tetrachloromethane	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	Carbon Tetrachloride results in decreased expression of PIGN mRNA	CTD	PMID:31150632
PIGN	Human	thioacetamide	decreases expression	ISO	Pign (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of PIGN mRNA	CTD	PMID:34492290
PIGN	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of PIGN mRNA	CTD	PMID:38568856
PIGN	Human	trichloroethene	decreases methylation	ISO	Pign (Rattus norvegicus)	6480464	Trichloroethylene results in decreased methylation of PIGN gene	CTD	PMID:27618143
PIGN	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of PIGN mRNA	CTD	PMID:37042841
PIGN	Human	trovafloxacin	decreases expression	ISO	Pign (Mus musculus)	6480464	trovafloxacin results in decreased expression of PIGN mRNA	CTD	PMID:35537566
PIGN	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of PIGN mRNA	CTD	PMID:23179753
PIGN	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PIGN mRNA	CTD	PMID:25979313
PIGN	Human	vinclozolin	increases expression	ISO	Pign (Rattus norvegicus)	6480464	vinclozolin results in increased expression of PIGN mRNA	CTD	PMID:23034163
PIGN	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of PIGN mRNA	CTD	PMID:27188386

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	GPI anchor biosynthetic process	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-162710
PIGN	Human	GPI anchor biosynthetic process	involved_in	ISS	UniProtKB:Q9R1S3	150520179		UniProt	GO_REF:0000024
PIGN	Human	GPI anchor biosynthetic process	involved_in	IBA	PANTHER:PTN000262246 more ...	150520179		GO_Central	GO_REF:0000033
PIGN	Human	GPI anchor biosynthetic process	involved_in	IEA	UniPathway:UPA00196	150520179		UniProt	GO_REF:0000041
PIGN	Human	GPI anchor biosynthetic process	involved_in	IEA	UniProtKB-KW:KW-0337	150520179		UniProt	GO_REF:0000043
PIGN	Human	GPI anchor biosynthetic process	involved_in	IEA	InterPro:IPR007070 more ...	150520179		InterPro	GO_REF:0000002

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
PIGN	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
PIGN	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
PIGN	Human	endoplasmic reticulum membrane	is_active_in	IBA	PANTHER:PTN000262246 more ...	150520179		GO_Central	GO_REF:0000033
PIGN	Human	endoplasmic reticulum membrane	located_in	IEA	UniRule:UR001454753	150520179		UniProt	GO_REF:0000104
PIGN	Human	endoplasmic reticulum membrane	located_in	IEA	InterPro:IPR007070 and InterPro:IPR017852	150520179		InterPro	GO_REF:0000002
PIGN	Human	endoplasmic reticulum membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-162798
PIGN	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
PIGN	Human	membrane	located_in	IEA	InterPro:IPR037671	150520179		InterPro	GO_REF:0000002
PIGN	Human	membrane	located_in	HDA		150520179	PMID:19946888	UniProt	PMID:19946888
PIGN	Human	plasma membrane	located_in	IDA		150520179		HPA	GO_REF:0000052

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	mannose-ethanolamine phosphotransferase activity	enables	ISS	UniProtKB:Q9R1S3	150520179		UniProt	GO_REF:0000024
PIGN	Human	mannose-ethanolamine phosphotransferase activity	enables	IBA	PANTHER:PTN000262246 and SGD:S000001648	150520179		GO_Central	GO_REF:0000033
PIGN	Human	mannose-ethanolamine phosphotransferase activity	enables	TAS		150520179		Reactome	Reactome:R-HSA-162798
PIGN	Human	mannose-ethanolamine phosphotransferase activity	enables	IEA	InterPro:IPR007070 and InterPro:IPR037671	150520179		InterPro	GO_REF:0000002
PIGN	Human	mannose-ethanolamine phosphotransferase activity	enables	IEA	UniRule:UR001454753	150520179		UniProt	GO_REF:0000104
PIGN	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
PIGN	Human	transferase activity	enables	IEA	InterPro:IPR017852	150520179		InterPro	GO_REF:0000002

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	glycosylphosphatidylinositol anchor biosynthetic pathway		IEA		6907045		KEGG	hsa:00563

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	Abnormal aortic arch morphology		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Abnormal aortic morphology		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Abnormal cardiac septum morphology		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Abnormal ilium morphology		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Abnormal posterior cranial fossa morphology		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Abnormal renal collecting system morphology		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Absent speech		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Aganglionic megacolon		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Agenesis of corpus callosum		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Amblyopia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Amblyopia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Anal atresia		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Anal atresia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Anal atresia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Anal stenosis		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Anal stenosis		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Anteverted nares		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Anteverted nares		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Anteverted nares		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Aortic root aneurysm		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Aplasia/Hypoplasia of the nipples		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Asymmetric crying face		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Athetosis		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Atrial septal defect		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Atrial septal defect		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Bicornuate uterus		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Bladder trabeculation		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Blepharitis		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Brachydactyly		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Broad forehead		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Cerebellar atrophy		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Cerebellar atrophy		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Cerebral atrophy		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Cerebral cortical atrophy		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Choreoathetosis		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Cleft palate		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Cleft palate		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Clinodactyly of the 5th finger		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Coarse facial features		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Coarse facial features		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Coarse facial features		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Congenital diaphragmatic hernia		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Congenital diaphragmatic hernia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Congenital megaureter		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Congenital onset		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Corneal opacity		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Cryptorchidism		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Cupped ear		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Dandy-Walker malformation		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Deep longitudinal plantar crease		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Deep plantar creases		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Delayed myelination		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Depressed nasal bridge		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Duodenal atresia		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Dysphagia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Ectopic anus		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Elevated circulating alpha-fetoprotein concentration		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Epicanthus		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Epicanthus		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Esotropia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Fair hair		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Feeding difficulties in infancy		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Flexion contracture of toe		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Frontal bossing		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Full cheeks		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Gastroesophageal reflux		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Gastroesophageal reflux		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Gastroesophageal reflux		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Generalized hypotonia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Generalized muscle weakness		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Gingival overgrowth		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Global developmental delay		IAGP		8699517		HPO	MIM:614080
PIGN	Human	High palate		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	High palate		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	High palate		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Hoarse cry		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hydrocele testis		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hydrocele testis		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Hydronephrosis		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Hydronephrosis		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hydronephrosis		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Hydroureter		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hyperpigmented/hypopigmented macules		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hyperreflexia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Hyperreflexia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hypertelorism		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hypertelorism		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Hypertelorism		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hypoplastic fingernail		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Hypoplastic fingernail		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hyporeflexia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Hyporeflexia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Hypospadias		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Hypotonia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Increased nuchal translucency		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Intellectual disability		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Intestinal malrotation		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Large fleshy ears		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Large fleshy ears		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Large for gestational age		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Long philtrum		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Long philtrum		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Low-set ears		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Macrocephaly		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Macrocephaly at birth		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Median cleft upper lip		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Micrognathia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Micrognathia		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Microphthalmia		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Microretrognathia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Microtia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Multicystic kidney dysplasia		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Narrow chest		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Narrow chest		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Narrow forehead		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Narrow mouth		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Non-midline cleft of the upper lip		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Nystagmus		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Nystagmus		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Omphalocele		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Open mouth		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Overfolded helix		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Overfolded helix		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Partial absence of cerebellar vermis		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Patent ductus arteriosus		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Patent ductus arteriosus		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Patent foramen ovale		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Peripheral pulmonary artery stenosis		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Pes cavus		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Polyhydramnios		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Polyhydramnios		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Posteriorly rotated ears		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Posteriorly rotated ears		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Prominent occiput		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Prominent palatine ridges		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Prominent superior crus of antihelix		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Prominent tragus		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Proportionate shortening of all digits		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Proximal muscle weakness in lower limbs		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Pulmonary arterial hypertension		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Pulmonary hypoplasia		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Pulmonary hypoplasia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Rectovestibular fistula		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Recurrent aspiration pneumonia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Renal dysplasia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Right ventricular hypertrophy		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Seizure		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Seizure		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Seizure		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Severe global developmental delay		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Severe global developmental delay		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Severe muscular hypotonia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Short distal phalanx of finger		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Short distal phalanx of finger		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Short foot		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Short neck		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Short neck		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Short nose		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Short nose		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Small forehead		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Small hand		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Smooth philtrum		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Spasticity		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Strabismus		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Synophrys		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Tapered finger		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Tented upper lip vermilion		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Tented upper lip vermilion		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Tetralogy of Fallot		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Thickened nuchal skin fold		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Thin lower lip vermilion		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Thin upper lip vermilion		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Thin vermilion border		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Tremor		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Tremor		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Unilateral renal dysplasia		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Ureteral duplication		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Ureteral hypoplasia		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Urinary bladder wall hypertrophy		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Variable expressivity		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Ventriculomegaly		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Ventriculomegaly		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Vertical nystagmus		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Vesicoureteral reflux		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Vesicoureteral reflux		IAGP		8699517		HPO	MIM:614080
PIGN	Human	Wide intermamillary distance		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Wide mouth		IAGP		8699517		HPO	ORPHA:2059
PIGN	Human	Wide mouth		IAGP		8699517		HPO	ORPHA:280633
PIGN	Human	Wide nasal bridge		IAGP		8699517		HPO	ORPHA:2059

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIGN	Human	Abnormal brain morphology		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormality of brain morphology	ClinVar	PMID:25741868 more ...
PIGN	Human	Neurodevelopmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental delay	ClinVar	PMID:25741868
PIGN	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:8889548	PMID:10069808	PMID:10574991	PMID:11102867	PMID:12477932	PMID:15489334	PMID:16341674	PMID:16344560	PMID:19322201	PMID:19690890	PMID:19946888	PMID:20301533
PMID:20301632	PMID:20379614	PMID:21493957	PMID:21873635	PMID:21903422	PMID:21988832	PMID:22658674	PMID:22876578	PMID:24104479	PMID:24253414	PMID:26186194	PMID:26364997
PMID:26394714	PMID:27038415	PMID:27980068	PMID:28187452	PMID:28327575	PMID:28514442	PMID:29330547	PMID:33961781	PMID:34051595	PMID:34079125	PMID:34561473	PMID:35271311
PMID:35337019	PMID:35439318	PMID:35696571	PMID:36215168	PMID:36322149	PMID:36363484	PMID:36526897

PIGN
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	62,017,615 - 62,187,056 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	61,905,255 - 62,187,118 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	59,708,397 - 59,854,289 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	57,862,437 - 58,005,269 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	57,862,439 - 58,005,206	NCBI
Celera	18	56,430,705 - 56,573,517 (-)	NCBI		Celera
Cytogenetic Map	18	q21.33	NCBI
HuRef	18	56,421,823 - 56,565,179 (-)	NCBI		HuRef
CHM1_1	18	59,707,055 - 59,849,802 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	18	62,220,799 - 62,389,993 (-)	NCBI		T2T-CHM13v2.0

Pign
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	105,446,147 - 105,591,466 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	105,446,147 - 105,591,402 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	105,518,421 - 105,663,741 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	105,518,422 - 105,663,677 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	107,417,716 - 107,560,253 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	107,348,686 - 107,491,209 (-)	NCBI		MGSCv36	mm8
Celera	1	108,376,436 - 108,513,016 (-)	NCBI		Celera
Cytogenetic Map	1	E2.1	NCBI
cM Map	1	49.63	NCBI

Pign
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	22,173,670 - 22,321,344 (-)	NCBI		GRCr8
mRatBN7.2	13	21,659,092 - 21,812,932 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	21,662,455 - 21,806,790 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	21,998,808 - 22,126,716 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	23,283,603 - 23,411,510 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	21,967,490 - 22,095,400 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	25,510,593 - 25,662,943 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	25,513,892 - 25,652,473 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	30,779,066 - 30,820,235 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	13	30,676,676 - 30,740,322 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	11,668,749 - 11,833,940 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	11,442,630 - 11,828,636 (-)	NCBI
Celera	13	21,552,506 - 21,677,358 (-)	NCBI		Celera
Cytogenetic Map	13	p11	NCBI

Pign
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955402	45,983,826 - 46,114,752 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955402	45,979,577 - 46,114,634 (-)	NCBI	ChiLan1.0	ChiLan1.0

PIGN
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	17	79,566,515 - 79,708,287 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	18	65,259,126 - 65,400,898 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	18	55,415,182 - 55,557,092 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	18	58,733,740 - 58,875,183 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	18	58,733,740 - 58,875,183 (-)	Ensembl	panpan1.1		panPan2

PIGN
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	14,684,026 - 14,791,221 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	14,685,694 - 14,805,691 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	15,651,440 - 15,758,632 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	14,544,736 - 14,652,948 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	14,544,755 - 14,652,948 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	14,580,565 - 14,688,156 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	14,513,807 - 14,621,155 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	14,760,723 - 14,868,433 (+)	NCBI		UU_Cfam_GSD_1.0

Pign
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404944	27,882,060 - 27,991,301 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936497	3,124,557 - 3,234,061 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936497	3,121,184 - 3,230,912 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PIGN
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	159,317,734 - 159,417,327 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	159,317,734 - 159,417,335 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	176,781,531 - 176,879,102 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PIGN
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	18	17,589,582 - 17,725,823 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	18	17,589,631 - 17,725,823 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666060	7,936,049 - 8,099,945 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pign
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624792	7,712,113 - 7,916,160 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624792	7,713,042 - 7,916,177 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PIGN
1209 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_176787.5(PIGN):c.1258del (p.Leu420fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000549586]	Chr18:62113310 [GRCh38] Chr18:59780543 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.787C>A (p.His263Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001061678]\|not provided [RCV000726748]\|not specified [RCV003317254]	Chr18:62146989 [GRCh38] Chr18:59814222 [GRCh37] Chr18:18q21.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_176787.5(PIGN):c.2590G>A (p.Val864Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000558792]	Chr18:62074808 [GRCh38] Chr18:59742041 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2672G>A (p.Ser891Asn)	single nucleotide variant	not provided [RCV000520775]	Chr18:62072673 [GRCh38] Chr18:59739906 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2098C>T (p.Leu700=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000544679]	Chr18:62095930 [GRCh38] Chr18:59763163 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.661C>T (p.Arg221Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001389985]\|not provided [RCV000521215]	Chr18:62148227 [GRCh38] Chr18:59815460 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000706539]\|not provided [RCV000519462]	Chr18:62045973 [GRCh38] Chr18:59713206 [GRCh37] Chr18:18q21.33	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_176787.5(PIGN):c.1387A>G (p.Ile463Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000549796]\|not provided [RCV004722912]	Chr18:62113181 [GRCh38] Chr18:59780414 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.963G>A (p.Gln321=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000087306]\|not provided [RCV001548501]	Chr18:62143306 [GRCh38] Chr18:59810539 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1926A>G (p.Lys642=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000555870]\|not provided [RCV004808777]	Chr18:62102836 [GRCh38] Chr18:59770069 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2448T>C (p.Tyr816=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000558604]\|not provided [RCV003419980]	Chr18:62084585 [GRCh38] Chr18:59751818 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2567C>T (p.Ser856Leu)	single nucleotide variant	Inborn genetic diseases [RCV004023607]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649305]\|not provided [RCV000519144]	Chr18:62082682 [GRCh38] Chr18:59749915 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.806G>T (p.Gly269Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000544118]	Chr18:62146025 [GRCh38] Chr18:59813258 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2437G>T (p.Ala813Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000546067]	Chr18:62084596 [GRCh38] Chr18:59751829 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2672+10A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000547622]	Chr18:62072663 [GRCh38] Chr18:59739896 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.2191C>G (p.Leu731Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000552753]	Chr18:62090568 [GRCh38] Chr18:59757801 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.884G>T (p.Arg295Ile)	single nucleotide variant	Inborn genetic diseases [RCV004955651]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000556648]\|not provided [RCV004822105]	Chr18:62145947 [GRCh38] Chr18:59813180 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.469T>C (p.Tyr157His)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000542495]	Chr18:62154625 [GRCh38] Chr18:59821858 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000023506]	Chr18:62095902 [GRCh38] Chr18:59763135 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.4(PIGN):c.2672+11970C>T	single nucleotide variant	Lung cancer [RCV000100918]	Chr18:62060703 [GRCh38] Chr18:59727936 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.4(PIGN):c.-236+8224C>G	single nucleotide variant	Lung cancer [RCV000100919]	Chr18:62178620 [GRCh38] Chr18:59845853 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.808T>C (p.Ser270Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000087305]	Chr18:62146023 [GRCh38] Chr18:59813256 [GRCh37] Chr18:18q21.33	pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	copy number gain	See cases [RCV000050989]	Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	copy number loss	See cases [RCV000051032]	Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000051048]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	copy number gain	See cases [RCV000052543]	Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	copy number gain	See cases [RCV000052501]	Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	copy number gain	See cases [RCV000052549]	Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3	copy number gain	See cases [RCV000052507]	Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]\|See cases [RCV000052563]	Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	copy number gain	See cases [RCV000052514]	Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|See cases [RCV000053869]	Chr18:53637007..80252149 [GRCh38] Chr18:51163377..78010032 [GRCh37] Chr18:49417375..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	copy number loss	See cases [RCV000053873]	Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18q21.32-21.33(chr18:61092555-63621755)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]\|See cases [RCV000053874]	Chr18:61092555..63621755 [GRCh38] Chr18:58759788..61288989 [GRCh37] Chr18:56910768..59439969 [NCBI36] Chr18:18q21.32-21.33	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|See cases [RCV000053834]	Chr18:51605752..80252149 [GRCh38] Chr18:49132122..78010032 [GRCh37] Chr18:47386120..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	copy number loss	See cases [RCV000053836]	Chr18:52156899..65408762 [GRCh38] Chr18:49683269..63075998 [GRCh37] Chr18:47937267..61226978 [NCBI36] Chr18:18q21.2-22.1	pathogenic
NM_176787.5(PIGN):c.2620-2A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001963854]	Chr18:62072727 [GRCh38] Chr18:59739960 [GRCh37] Chr18:18q21.33	likely pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	copy number loss	See cases [RCV000133689]	Chr18:59567681..80252149 [GRCh38] Chr18:57234913..78010032 [GRCh37] Chr18:55385893..76111023 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	copy number gain	See cases [RCV000134110]	Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	copy number loss	See cases [RCV000135616]	Chr18:61576009..80252149 [GRCh38] Chr18:59243242..78010032 [GRCh37] Chr18:57394222..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	copy number loss	See cases [RCV000135413]	Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	copy number loss	See cases [RCV000135567]	Chr18:61827111..80252149 [GRCh38] Chr18:59494344..78010032 [GRCh37] Chr18:57645324..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic\|uncertain significance
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	copy number gain	See cases [RCV000136910]	Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1	pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	copy number gain	See cases [RCV000136890]	Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	copy number loss	See cases [RCV000136674]	Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	copy number gain	See cases [RCV000137342]	Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	copy number loss	See cases [RCV000137375]	Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	copy number gain	See cases [RCV000138034]	Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	copy number gain	See cases [RCV000138656]	Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23	pathogenic\|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	copy number gain	See cases [RCV000139397]	Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	copy number loss	See cases [RCV000139134]	Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.2620-5del	deletion	Inborn genetic diseases [RCV002311318]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001521998]\|not specified [RCV000203007]	Chr18:62072730 [GRCh38] Chr18:59739963 [GRCh37] Chr18:18q21.33	benign\|likely benign
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	copy number gain	See cases [RCV000139496]	Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	copy number loss	See cases [RCV000139669]	Chr18:59996934..80254946 [GRCh38] Chr18:57664166..78012829 [GRCh37] Chr18:55815146..76113817 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	copy number loss	See cases [RCV000141429]	Chr18:61613338..80252090 [GRCh38] Chr18:59280571..78009973 [GRCh37] Chr18:57431551..76110964 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	copy number loss	See cases [RCV000140925]	Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln)	single nucleotide variant	Inborn genetic diseases [RCV002311319]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000549211]\|PIGN-related disorder [RCV004752793]\|not provided [RCV001562694]\|not specified [RCV000203164]	Chr18:62157207 [GRCh38] Chr18:59824440 [GRCh37] Chr18:18q21.33	benign\|likely benign\|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	copy number gain	See cases [RCV000142244]	Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	copy number gain	See cases [RCV000142227]	Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	copy number gain	See cases [RCV000143057]	Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3	pathogenic
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	copy number gain	See cases [RCV000143195]	Chr18:59909593..72609801 [GRCh38] Chr18:57576825..70277036 [GRCh37] Chr18:55727805..68428016 [NCBI36] Chr18:18q21.32-22.3	likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	copy number gain	See cases [RCV000143218]	Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000148072]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	copy number gain	See cases [RCV000240130]	Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_176787.5(PIGN):c.2580T>A (p.Leu860=)	single nucleotide variant	Inborn genetic diseases [RCV002431683]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000546262]\|not provided [RCV001552158]\|not specified [RCV004701642]	Chr18:62074818 [GRCh38] Chr18:59742051 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1004C>T (p.Pro335Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000543690]	Chr18:62140439 [GRCh38] Chr18:59807672 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2751G>T (p.Thr917=)	single nucleotide variant	Inborn genetic diseases [RCV002315014]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001081004]\|PIGN-related disorder [RCV003905429]\|not provided [RCV000712552]\|not specified [RCV005000197]	Chr18:62045901 [GRCh38] Chr18:59713134 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.2672+1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001857948]\|not provided [RCV000518981]	Chr18:62072672 [GRCh38] Chr18:59739905 [GRCh37] Chr18:18q21.33	pathogenic\|uncertain significance
NM_176787.5(PIGN):c.1110G>C (p.Gln370His)	single nucleotide variant	Inborn genetic diseases [RCV002530190]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000560758]\|not provided [RCV002473057]	Chr18:62138989 [GRCh38] Chr18:59806222 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.528G>A (p.Thr176=)	single nucleotide variant	Inborn genetic diseases [RCV002315015]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000555086]\|not provided [RCV001672844]	Chr18:62154566 [GRCh38] Chr18:59821799 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.772A>G (p.Ile258Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000555308]	Chr18:62147004 [GRCh38] Chr18:59814237 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1717dup (p.Thr573fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000578285]	Chr18:62106838..62106839 [GRCh38] Chr18:59774071..59774072 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.167C>T (p.Ala56Val)	single nucleotide variant	Inborn genetic diseases [RCV002314902]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000555645]\|PIGN-related disorder [RCV003979927]\|not provided [RCV001572824]\|not specified [RCV000516756]	Chr18:62161187 [GRCh38] Chr18:59828420 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.674+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003133393]\|Multiple congenital anomalies-hypotonia-seizures syndrome [RCV000605005]	Chr18:62148213 [GRCh38] Chr18:59815446 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1434+5G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000250290]\|not provided [RCV001091656]	Chr18:62113129 [GRCh38] Chr18:59780362 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.755A>T (p.Asp252Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000253807]	Chr18:62147021 [GRCh38] Chr18:59814254 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.694A>T (p.Lys232Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000246557]	Chr18:62147082 [GRCh38] Chr18:59814315 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1674+1G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000241768]\|not provided [RCV000579091]	Chr18:62106985 [GRCh38] Chr18:59774218 [GRCh37] Chr18:18q21.33	pathogenic
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	copy number loss	See cases [RCV000240432]	Chr18:58014591..68158862 [GRCh37] Chr18:18q21.32-22.2	pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	copy number gain	See cases [RCV000240476]	Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23	pathogenic
NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000249988]	Chr18:62102796 [GRCh38] Chr18:59770029 [GRCh37] Chr18:18q21.33	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	copy number gain	See cases [RCV000240296]	Chr18:58525322..78005236 [GRCh37] Chr18:18q21.32-23	pathogenic
NM_176787.5(PIGN):c.548_549+6del	deletion	Inborn genetic diseases [RCV002347968]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000242057]\|Multiple congenital anomalies-hypotonia-seizures syndrome [RCV000609184]\|not provided [RCV000727335]	Chr18:62154539..62154546 [GRCh38] Chr18:59821772..59821779 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000245624]\|not provided [RCV001815303]	Chr18:62088786 [GRCh38] Chr18:59756019 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.324_549+196del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000246837]	Chr18:62154349..62157706 [GRCh38] Chr18:59821582..59824939 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1434_1434+1delinsAA	indel	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002519047]\|not provided [RCV000399168]	Chr18:62113133..62113134 [GRCh38] Chr18:59780366..59780367 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.2284-1G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000816410]\|not provided [RCV000490244]	Chr18:62088843 [GRCh38] Chr18:59756076 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)	single nucleotide variant	Inborn genetic diseases [RCV000624007]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000532832]\|not provided [RCV000489201]	Chr18:62143337 [GRCh38] Chr18:59810570 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.1827G>A (p.Pro609=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001367991]	Chr18:62105575 [GRCh38] Chr18:59772808 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.421dup (p.Ile141fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000515136]	Chr18:62157149..62157150 [GRCh38] Chr18:59824382..59824383 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1674+1G>A	single nucleotide variant	not provided [RCV000488252]	Chr18:62106985 [GRCh38] Chr18:59774218 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2620-2A>T	single nucleotide variant	not provided [RCV000722493]	Chr18:62072727 [GRCh38] Chr18:59739960 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys)	indel	Inborn genetic diseases [RCV002448567]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000533446]\|not provided [RCV000712546]	Chr18:62085223..62085224 [GRCh38] Chr18:59752456..59752457 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.166G>A (p.Ala56Thr)	single nucleotide variant	not provided [RCV000592949]	Chr18:62161188 [GRCh38] Chr18:59828421 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.776T>C (p.Phe259Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000531470]\|PIGN-related disorder [RCV003424078]\|not provided [RCV000521591]\|not specified [RCV002307529]	Chr18:62147000 [GRCh38] Chr18:59814233 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001372344]\|not provided [RCV000722892]	Chr18:62161219..62161221 [GRCh38] Chr18:59828452..59828454 [GRCh37] Chr18:18q21.33	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	copy number loss	not provided [RCV000416006]	Chr18:59461447..78010032 [GRCh37] Chr18:18q21.33-23	likely pathogenic
NM_176787.5(PIGN):c.981dup (p.Met328fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001059866]\|not provided [RCV000734560]	Chr18:62140461..62140462 [GRCh38] Chr18:59807694..59807695 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.1488A>G (p.Ala496=)	single nucleotide variant	Inborn genetic diseases [RCV002315011]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000525927]\|not provided [RCV000712543]	Chr18:62109920 [GRCh38] Chr18:59777153 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1694G>A (p.Arg565His)	single nucleotide variant	Inborn genetic diseases [RCV002315012]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000527254]\|not provided [RCV001584317]	Chr18:62106862 [GRCh38] Chr18:59774095 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.181G>T (p.Glu61Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002523930]\|not provided [RCV000412737]	Chr18:62161173 [GRCh38] Chr18:59828406 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1619C>T (p.Pro540Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000538489]	Chr18:62107041 [GRCh38] Chr18:59774274 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.610A>G (p.Ile204Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000539273]	Chr18:62148278 [GRCh38] Chr18:59815511 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1172+5G>C	single nucleotide variant	not provided [RCV000413707]	Chr18:62138238 [GRCh38] Chr18:59805471 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.459C>T (p.His153=)	single nucleotide variant	Inborn genetic diseases [RCV002341426]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000525339]\|not provided [RCV001555992]	Chr18:62154635 [GRCh38] Chr18:59821868 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.309T>C (p.Ala103=)	single nucleotide variant	Inborn genetic diseases [RCV002311871]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001082932]\|not provided [RCV000712553]	Chr18:62157721 [GRCh38] Chr18:59824954 [GRCh37] Chr18:18q21.33	benign
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1	copy number loss	See cases [RCV000449209]	Chr18:55793243..68705548 [GRCh37] Chr18:18q21.31-22.3	pathogenic
NM_176787.5(PIGN):c.996T>G (p.Ile332Met)	single nucleotide variant	Abnormal brain morphology [RCV000454324]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000578405]\|PIGN-related disorder [RCV003401442]\|not provided [RCV003314594]	Chr18:62140447 [GRCh38] Chr18:59807680 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1	copy number loss	See cases [RCV000449163]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1	copy number loss	See cases [RCV000446087]	Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3	copy number gain	See cases [RCV000446047]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_176787.5(PIGN):c.804G>C (p.Trp268Cys)	single nucleotide variant	not provided [RCV000423690]	Chr18:62146972 [GRCh38] Chr18:59814205 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2354G>A (p.Arg785His)	single nucleotide variant	Inborn genetic diseases [RCV002446654]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001343035]\|not provided [RCV000430866]	Chr18:62088772 [GRCh38] Chr18:59756005 [GRCh37] Chr18:18q21.33	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	single nucleotide variant	Inborn genetic diseases [RCV000623425]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000796566]\|not provided [RCV000514477]	Chr18:62157747 [GRCh38] Chr18:59824980 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	copy number gain	See cases [RCV000445851]	Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)	single nucleotide variant	Inborn genetic diseases [RCV002411404]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000695519]\|not provided [RCV000418646]\|not specified [RCV002248660]	Chr18:62106862 [GRCh38] Chr18:59774095 [GRCh37] Chr18:18q21.33	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	copy number loss	See cases [RCV000510720]	Chr18:50224898..78014123 [GRCh37] Chr18:18q21.2-23	likely pathogenic
NM_176787.5(PIGN):c.923-12T>A	single nucleotide variant	not provided [RCV000429299]	Chr18:62143358 [GRCh38] Chr18:59810591 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1	copy number loss	See cases [RCV000445943]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1	copy number loss	See cases [RCV000447931]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1	copy number loss	See cases [RCV000448656]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	copy number loss	See cases [RCV000512059]	Chr18:54462182..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	copy number gain	See cases [RCV000512081]	Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23	pathogenic
NM_176787.5(PIGN):c.1205_1207delinsAG (p.Leu402_Arg403delinsTer)	indel	not provided [RCV000481670]	Chr18:62114605..62114607 [GRCh38] Chr18:59781838..59781840 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.562C>T (p.His188Tyr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001204694]\|not provided [RCV000481779]	Chr18:62148326 [GRCh38] Chr18:59815559 [GRCh37] Chr18:18q21.33	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_176787.5(PIGN):c.1377T>C (p.Ser459=)	single nucleotide variant	Inborn genetic diseases [RCV002311759]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001515707]\|not provided [RCV001618701]\|not specified [RCV000454642]	Chr18:62113191 [GRCh38] Chr18:59780424 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2010T>C (p.Thr670=)	single nucleotide variant	Inborn genetic diseases [RCV002311756]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001515704]\|not provided [RCV001653806]\|not specified [RCV000454674]	Chr18:62101142 [GRCh38] Chr18:59768375 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.806-7T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001515710]\|not provided [RCV000841103]\|not specified [RCV000454765]	Chr18:62146032 [GRCh38] Chr18:59813265 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu)	single nucleotide variant	Inborn genetic diseases [RCV002311764]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001522911]\|not provided [RCV001653807]\|not specified [RCV000454928]	Chr18:62154610 [GRCh38] Chr18:59821843 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1962G>A (p.Leu654=)	single nucleotide variant	Inborn genetic diseases [RCV002311757]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001515705]\|not provided [RCV001613281]\|not specified [RCV000455053]	Chr18:62102800 [GRCh38] Chr18:59770033 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1245T>C (p.Asp415=)	single nucleotide variant	Inborn genetic diseases [RCV002311760]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001515708]\|not provided [RCV001613282]\|not specified [RCV000455284]	Chr18:62114567 [GRCh38] Chr18:59781800 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.741C>T (p.His247=)	single nucleotide variant	Inborn genetic diseases [RCV002311762]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000602605]\|not provided [RCV001643155]\|not specified [RCV000455462]	Chr18:62147035 [GRCh38] Chr18:59814268 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1752G>A (p.Leu584=)	single nucleotide variant	Inborn genetic diseases [RCV002311758]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001515706]\|not provided [RCV001618700]\|not specified [RCV000455889]	Chr18:62106804 [GRCh38] Chr18:59774037 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.685C>G (p.His229Asp)	single nucleotide variant	Inborn genetic diseases [RCV002311763]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000609740]\|not provided [RCV001672770]\|not specified [RCV000456027]	Chr18:62147091 [GRCh38] Chr18:59814324 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.939T>C (p.Asn313=)	single nucleotide variant	Inborn genetic diseases [RCV002311761]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001515709]\|not provided [RCV000844382]\|not specified [RCV000456035]	Chr18:62143330 [GRCh38] Chr18:59810563 [GRCh37] Chr18:18q21.33	benign
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	copy number gain	See cases [RCV000510655]	Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	copy number loss	See cases [RCV000510685]	Chr18:59809990..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	copy number gain	See cases [RCV000511394]	Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	copy number gain	See cases [RCV000511734]	Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1	pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	copy number gain	See cases [RCV000512030]	Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	copy number loss	See cases [RCV000511759]	Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	copy number gain	See cases [RCV000511203]	Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23	pathogenic
NM_176787.5(PIGN):c.2596G>A (p.Val866Ile)	single nucleotide variant	Inborn genetic diseases [RCV002424678]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000698661]	Chr18:62074802 [GRCh38] Chr18:59742035 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.1145C>A (p.Thr382Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000698764]	Chr18:62138270 [GRCh38] Chr18:59805503 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	copy number gain	See cases [RCV000511189]	Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=)	single nucleotide variant	Inborn genetic diseases [RCV002311868]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001083238]\|PIGN-related disorder [RCV003905428]\|not provided [RCV000712544]	Chr18:62107043 [GRCh38] Chr18:59774276 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu)	single nucleotide variant	Inborn genetic diseases [RCV002311869]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000528322]\|not provided [RCV000712550]\|not specified [RCV001700217]	Chr18:62045940 [GRCh38] Chr18:59713173 [GRCh37] Chr18:18q21.33	benign
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV000768454]	Chr18:58024137..77996821 [GRCh37] Chr18:18q21.32-23	pathogenic
NM_176787.5(PIGN):c.2040G>A (p.Leu680=)	single nucleotide variant	Inborn genetic diseases [RCV002420503]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000532058]\|PIGN-related disorder [RCV004752942]	Chr18:62101112 [GRCh38] Chr18:59768345 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2577-13dup	duplication	Inborn genetic diseases [RCV002315013]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000533640]\|not provided [RCV000712549]	Chr18:62074825..62074826 [GRCh38] Chr18:59742058..59742059 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.1240T>A (p.Phe414Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000626066]	Chr18:62114572 [GRCh38] Chr18:59781805 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.310G>C (p.Gly104Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000626067]	Chr18:62157720 [GRCh38] Chr18:59824953 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.2600T>C (p.Ile867Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000534988]\|not provided [RCV002279958]	Chr18:62074798 [GRCh38] Chr18:59742031 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.2745C>G (p.Leu915=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000536359]	Chr18:62045907 [GRCh38] Chr18:59713140 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr)	single nucleotide variant	Inborn genetic diseases [RCV002384217]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000537175]\|not provided [RCV003153724]	Chr18:62113196 [GRCh38] Chr18:59780429 [GRCh37] Chr18:18q21.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_176787.5(PIGN):c.464A>G (p.Tyr155Cys)	single nucleotide variant	Inborn genetic diseases [RCV003282879]	Chr18:62154630 [GRCh38] Chr18:59821863 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1117-5C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000536959]\|PIGN-related disorder [RCV003962564]\|not provided [RCV001564167]	Chr18:62138303 [GRCh38] Chr18:59805536 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1747C>T (p.Arg583Trp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000539863]	Chr18:62106809 [GRCh38] Chr18:59774042 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.329_549+1908del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000515131]	Chr18:62152637..62157701 [GRCh38] Chr18:59819870..59824934 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2783G>A (p.Ser928Asn)	single nucleotide variant	Inborn genetic diseases [RCV002311870]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000528527]\|PIGN-related disorder [RCV003935492]	Chr18:62045869 [GRCh38] Chr18:59713102 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.1442G>A (p.Ser481Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649295]	Chr18:62109966 [GRCh38] Chr18:59777199 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.371A>T (p.Asp124Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649296]	Chr18:62157200 [GRCh38] Chr18:59824433 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.253A>G (p.Ile85Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649297]\|not provided [RCV001567362]	Chr18:62157777 [GRCh38] Chr18:59825010 [GRCh37] Chr18:18q21.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_176787.5(PIGN):c.47T>C (p.Phe16Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649298]	Chr18:62161307 [GRCh38] Chr18:59828540 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.117G>T (p.Leu39Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649299]\|not specified [RCV004702247]	Chr18:62161237 [GRCh38] Chr18:59828470 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.896A>G (p.Gln299Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649300]\|not provided [RCV004817845]	Chr18:62145935 [GRCh38] Chr18:59813168 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.94A>G (p.Met32Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649301]	Chr18:62161260 [GRCh38] Chr18:59828493 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1793T>C (p.Phe598Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649302]	Chr18:62105609 [GRCh38] Chr18:59772842 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.250G>A (p.Gly84Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649303]	Chr18:62157780 [GRCh38] Chr18:59825013 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1428A>T (p.Glu476Asp)	single nucleotide variant	Inborn genetic diseases [RCV002531941]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649304]\|not provided [RCV001756085]	Chr18:62113140 [GRCh38] Chr18:59780373 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.1816C>G (p.Pro606Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649306]	Chr18:62105586 [GRCh38] Chr18:59772819 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1117-1=	single nucleotide variant	History of neurodevelopmental disorder [RCV000715228]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000612896]\|not provided [RCV000837249]	Chr18:62138299 [GRCh38] Chr18:59805532 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.654T>G (p.His218Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649307]\|not provided [RCV001569047]	Chr18:62148234 [GRCh38] Chr18:59815467 [GRCh37] Chr18:18q21.33	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_176787.5(PIGN):c.128C>T (p.Ala43Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649308]	Chr18:62161226 [GRCh38] Chr18:59828459 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.222-9A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649309]	Chr18:62157817 [GRCh38] Chr18:59825050 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1869A>G (p.Ala623=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649319]\|not provided [RCV003424237]	Chr18:62102893 [GRCh38] Chr18:59770126 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met)	single nucleotide variant	Inborn genetic diseases [RCV002311985]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001085135]\|not provided [RCV000712545]	Chr18:62090521 [GRCh38] Chr18:59757754 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.1173-8A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649317]\|PIGN-related disorder [RCV003892473]	Chr18:62114647 [GRCh38] Chr18:59781880 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2455C>T (p.Leu819=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649316]	Chr18:62084578 [GRCh38] Chr18:59751811 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1332C>T (p.Gly444=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649315]	Chr18:62113236 [GRCh38] Chr18:59780469 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.922+9A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001440386]	Chr18:62145900 [GRCh38] Chr18:59813133 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2124G>A (p.Gln708=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649313]	Chr18:62095904 [GRCh38] Chr18:59763137 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1761A>G (p.Arg587=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649312]	Chr18:62106795 [GRCh38] Chr18:59774028 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1194G>A (p.Gln398=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649311]	Chr18:62114618 [GRCh38] Chr18:59781851 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1749G>A (p.Arg583=)	single nucleotide variant	Inborn genetic diseases [RCV002406445]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000649310]\|not provided [RCV001551286]	Chr18:62106807 [GRCh38] Chr18:59774040 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	copy number gain	See cases [RCV000512425]	Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23	pathogenic
NM_176787.5(PIGN):c.460G>A (p.Val154Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003114641]\|not provided [RCV000512870]	Chr18:62154634 [GRCh38] Chr18:59821867 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1940del (p.Lys647fs)	deletion	Inborn genetic diseases [RCV000622272]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640929]	Chr18:62102822 [GRCh38] Chr18:59770055 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2091_2093del (p.Val698del)	deletion	Inborn genetic diseases [RCV000622558]\|not provided [RCV001756019]	Chr18:62095935..62095937 [GRCh38] Chr18:59763168..59763170 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	copy number loss	See cases [RCV000512579]	Chr18:58768873..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
NM_176787.5(PIGN):c.2092G>A (p.Val698Met)	single nucleotide variant	Inborn genetic diseases [RCV003279016]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000698347]	Chr18:62095936 [GRCh38] Chr18:59763169 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2740C>T (p.Leu914=)	single nucleotide variant	Inborn genetic diseases [RCV002316740]	Chr18:62045912 [GRCh38] Chr18:59713145 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2693T>C (p.Val898Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000700872]	Chr18:62045959 [GRCh38] Chr18:59713192 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	copy number loss	not provided [RCV000684056]	Chr18:55083032..72743857 [GRCh37] Chr18:18q21.31-22.3	pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	copy number loss	not provided [RCV000684058]	Chr18:56905884..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	copy number loss	not provided [RCV000684059]	Chr18:55298900..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	copy number loss	not provided [RCV000684060]	Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.33(chr18:59749354-59810007)x1	copy number loss	not provided [RCV000683972]	Chr18:59749354..59810007 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met)	single nucleotide variant	Inborn genetic diseases [RCV002440564]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000792872]\|not provided [RCV000712551]\|not specified [RCV003387917]	Chr18:62045902 [GRCh38] Chr18:59713135 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1886T>C (p.Leu629Pro)	single nucleotide variant	Inborn genetic diseases [RCV004958035]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000702266]	Chr18:62102876 [GRCh38] Chr18:59770109 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1992G>A (p.Met664Ile)	single nucleotide variant	Inborn genetic diseases [RCV002536392]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000705114]\|not provided [RCV001585655]	Chr18:62101160 [GRCh38] Chr18:59768393 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.1117G>T (p.Val373Leu)	single nucleotide variant	Inborn genetic diseases [RCV002312760]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001243233]\|not provided [RCV003231602]	Chr18:62138298 [GRCh38] Chr18:59805531 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.746A>G (p.Tyr249Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000705205]\|not provided [RCV000996694]	Chr18:62147030 [GRCh38] Chr18:59814263 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2441C>G (p.Ser814Cys)	single nucleotide variant	not provided [RCV000712547]	Chr18:62084592 [GRCh38] Chr18:59751825 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1333G>A (p.Val445Ile)	single nucleotide variant	Inborn genetic diseases [RCV002532932]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001048892]\|not provided [RCV000712540]	Chr18:62113235 [GRCh38] Chr18:59780468 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.1418T>C (p.Val473Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001055728]\|not provided [RCV000712541]	Chr18:62113150 [GRCh38] Chr18:59780383 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu)	single nucleotide variant	Inborn genetic diseases [RCV002388356]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001049765]\|not provided [RCV000712542]	Chr18:62113145 [GRCh38] Chr18:59780378 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.2486C>T (p.Ala829Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001368509]\|not provided [RCV000712548]	Chr18:62084547 [GRCh38] Chr18:59751780 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2624T>G (p.Phe875Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000702792]	Chr18:62072721 [GRCh38] Chr18:59739954 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1646T>C (p.Leu549Ser)	single nucleotide variant	Inborn genetic diseases [RCV003279002]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000691638]	Chr18:62107014 [GRCh38] Chr18:59774247 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1408A>T (p.Ile470Leu)	single nucleotide variant	Inborn genetic diseases [RCV002312292]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001521999]\|not provided [RCV001692262]	Chr18:62113160 [GRCh38] Chr18:59780393 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly)	single nucleotide variant	Inborn genetic diseases [RCV003362913]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000703436]	Chr18:62161184 [GRCh38] Chr18:59828417 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.720A>C (p.Glu240Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000706259]	Chr18:62147056 [GRCh38] Chr18:59814289 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.317A>C (p.Tyr106Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000692274]\|not provided [RCV004794441]	Chr18:62157713 [GRCh38] Chr18:59824946 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.963+1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000706512]	Chr18:62143305 [GRCh38] Chr18:59810538 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.237T>A (p.His79Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000692665]	Chr18:62157793 [GRCh38] Chr18:59825026 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1434G>A (p.Lys478=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000693239]	Chr18:62113134 [GRCh38] Chr18:59780367 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2447A>C (p.Tyr816Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000693258]	Chr18:62084586 [GRCh38] Chr18:59751819 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg)	single nucleotide variant	Inborn genetic diseases [RCV002397391]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000690571]	Chr18:62106790 [GRCh38] Chr18:59774023 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.323A>G (p.Asp108Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000707504]	Chr18:62157707 [GRCh38] Chr18:59824940 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000704858]\|not provided [RCV001585654]	Chr18:62106797 [GRCh38] Chr18:59774030 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.2230A>G (p.Ile744Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000704867]\|not provided [RCV002508252]	Chr18:62090529 [GRCh38] Chr18:59757762 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2485G>A (p.Ala829Thr)	single nucleotide variant	Inborn genetic diseases [RCV003165914]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000705678]	Chr18:62084548 [GRCh38] Chr18:59751781 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.10:g.(?_62088736)_(62143366_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000708186]	Chr18:62088736..62143366 [GRCh38] Chr18:59755969..59810599 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.139G>C (p.Val47Leu)	single nucleotide variant	Inborn genetic diseases [RCV002388222]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000689553]\|not provided [RCV001766477]	Chr18:62161215 [GRCh38] Chr18:59828448 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1759C>G (p.Arg587Gly)	single nucleotide variant	Inborn genetic diseases [RCV002312317]	Chr18:62106797 [GRCh38] Chr18:59774030 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1365A>G (p.Ile455Met)	single nucleotide variant	Inborn genetic diseases [RCV002315263]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001306986]	Chr18:62113203 [GRCh38] Chr18:59780436 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.805+172del	deletion	not provided [RCV001567739]	Chr18:62146799 [GRCh38] Chr18:59814032 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2620-17dup	duplication	Inborn genetic diseases [RCV002312347]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001522239]\|not provided [RCV000841089]	Chr18:62072729..62072730 [GRCh38] Chr18:59739962..59739963 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.1102C>T (p.Leu368Phe)	single nucleotide variant	Inborn genetic diseases [RCV002314460]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000878427]\|not provided [RCV001759433]	Chr18:62138997 [GRCh38] Chr18:59806230 [GRCh37] Chr18:18q21.33	benign\|likely benign\|uncertain significance
NM_176787.5(PIGN):c.471T>C (p.Tyr157=)	single nucleotide variant	Inborn genetic diseases [RCV002318710]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000969813]\|PIGN-related disorder [RCV003918174]\|not provided [RCV001548185]	Chr18:62154623 [GRCh38] Chr18:59821856 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1860G>A (p.Val620=)	single nucleotide variant	Inborn genetic diseases [RCV002315334]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000904474]\|not provided [RCV001565094]	Chr18:62102902 [GRCh38] Chr18:59770135 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.2707A>G (p.Ile903Val)	single nucleotide variant	Inborn genetic diseases [RCV002318066]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000816017]	Chr18:62045945 [GRCh38] Chr18:59713178 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2180+1G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005027891]\|not provided [RCV000722354]	Chr18:62095847 [GRCh38] Chr18:59763080 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.2685T>A (p.Tyr895Ter)	single nucleotide variant	not provided [RCV000722387]	Chr18:62045967 [GRCh38] Chr18:59713200 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2619+46G>T	single nucleotide variant	not provided [RCV001565010]	Chr18:62074733 [GRCh38] Chr18:59741966 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1860-12A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002568938]\|not provided [RCV001540619]	Chr18:62102914 [GRCh38] Chr18:59770147 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1767+154G>T	single nucleotide variant	not provided [RCV001540962]	Chr18:62106635 [GRCh38] Chr18:59773868 [GRCh37] Chr18:18q21.33	benign
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1	copy number loss	not provided [RCV000739824]	Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.1251+6_1251+7delinsCTATTTATGTC	indel	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001543693]	Chr18:62114554..62114555 [GRCh38] Chr18:59781787..59781788 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1435-309dup	duplication	not provided [RCV001612217]	Chr18:62110281..62110282 [GRCh38] Chr18:59777514..59777515 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1674+33A>G	single nucleotide variant	not provided [RCV001666128]	Chr18:62106953 [GRCh38] Chr18:59774186 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.344-30T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001788580]\|not provided [RCV001534240]	Chr18:62157257 [GRCh38] Chr18:59824490 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1117-175G>A	single nucleotide variant	not provided [RCV001611831]	Chr18:62138473 [GRCh38] Chr18:59805706 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.550-7T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001424805]	Chr18:62148345 [GRCh38] Chr18:59815578 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.443-68T>C	single nucleotide variant	not provided [RCV001709335]	Chr18:62154719 [GRCh38] Chr18:59821952 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2077+191C>T	single nucleotide variant	not provided [RCV001667991]	Chr18:62100884 [GRCh38] Chr18:59768117 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.675-163dup	duplication	not provided [RCV001679678]	Chr18:62147258..62147259 [GRCh38] Chr18:59814491..59814492 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2181-27del	deletion	not provided [RCV001669319]	Chr18:62090605 [GRCh38] Chr18:59757838 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2193_2194del (p.Phe732fs)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001055058]	Chr18:62090565..62090566 [GRCh38] Chr18:59757798..59757799 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2673-113C>T	single nucleotide variant	not provided [RCV001551301]	Chr18:62046092 [GRCh38] Chr18:59713325 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1023+253A>G	single nucleotide variant	not provided [RCV001581318]	Chr18:62140167 [GRCh38] Chr18:59807400 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3	copy number gain	not provided [RCV000752245]	Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_176787.5(PIGN):c.2077+63T>G	single nucleotide variant	not provided [RCV001547123]	Chr18:62101012 [GRCh38] Chr18:59768245 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1575-69C>A	single nucleotide variant	not provided [RCV001570598]	Chr18:62107154 [GRCh38] Chr18:59774387 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3	copy number gain	not provided [RCV000752246]	Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	copy number loss	not provided [RCV001007016]	Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1	copy number loss	not provided [RCV000752355]	Chr18:57244903..63722436 [GRCh37] Chr18:18q21.32-22.1	benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1	copy number loss	not provided [RCV000752356]	Chr18:57244903..77325446 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1	copy number loss	not provided [RCV000752366]	Chr18:59585959..78015180 [GRCh37] Chr18:18q21.33-23	pathogenic
NM_176787.5(PIGN):c.1435-180T>A	single nucleotide variant	not provided [RCV001681603]	Chr18:62110153 [GRCh38] Chr18:59777386 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2013G>A (p.Gln671=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000950320]\|not provided [RCV004704364]	Chr18:62101139 [GRCh38] Chr18:59768372 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1707C>T (p.Thr569=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000878608]\|not provided [RCV001558498]	Chr18:62106849 [GRCh38] Chr18:59774082 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1251+7A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000951203]\|not specified [RCV004997526]	Chr18:62114554 [GRCh38] Chr18:59781787 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1398T>C (p.His466=)	single nucleotide variant	Inborn genetic diseases [RCV002391000]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000951213]	Chr18:62113170 [GRCh38] Chr18:59780403 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.288A>C (p.Pro96=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001404201]	Chr18:62157742 [GRCh38] Chr18:59824975 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1359A>T (p.Gly453=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001421180]	Chr18:62113209 [GRCh38] Chr18:59780442 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.931T>C (p.Leu311=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000926341]	Chr18:62143338 [GRCh38] Chr18:59810571 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.213G>A (p.Pro71=)	single nucleotide variant	Inborn genetic diseases [RCV002427399]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000964717]\|not provided [RCV001575364]	Chr18:62161141 [GRCh38] Chr18:59828374 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.1050C>T (p.Asn350=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001448344]	Chr18:62139049 [GRCh38] Chr18:59806282 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2568G>C (p.Ser856=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002548324]	Chr18:62082681 [GRCh38] Chr18:59749914 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.426G>C (p.Leu142=)	single nucleotide variant	Inborn genetic diseases [RCV002327182]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000946195]	Chr18:62157145 [GRCh38] Chr18:59824378 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.396C>T (p.Tyr132=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000904653]\|not provided [RCV001539477]	Chr18:62157175 [GRCh38] Chr18:59824408 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1674+8A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000904707]	Chr18:62106978 [GRCh38] Chr18:59774211 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2078-7A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001395834]	Chr18:62095957 [GRCh38] Chr18:59763190 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.437C>T (p.Ala146Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001044670]	Chr18:62157134 [GRCh38] Chr18:59824367 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2528T>C (p.Met843Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001052849]	Chr18:62082721 [GRCh38] Chr18:59749954 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1430T>A (p.Val477Glu)	single nucleotide variant	Inborn genetic diseases [RCV004649444]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001063701]	Chr18:62113138 [GRCh38] Chr18:59780371 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	copy number loss	not provided [RCV001007017]	Chr18:55458425..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
NM_176787.5(PIGN):c.2426+1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001045709]	Chr18:62085208 [GRCh38] Chr18:59752441 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.181G>A (p.Glu61Lys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001068903]	Chr18:62161173 [GRCh38] Chr18:59828406 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.10:g.(?_62045836)_(62464074_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001033469]	Chr18:59713069..60131307 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.329_549+1907del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001061402]	Chr18:62152638..62157701 [GRCh38] Chr18:59819871..59824934 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1826C>T (p.Pro609Leu)	single nucleotide variant	Inborn genetic diseases [RCV003259046]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001041555]\|not provided [RCV001568646]	Chr18:62105576 [GRCh38] Chr18:59772809 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2062A>C (p.Ser688Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000995838]\|not specified [RCV004782621]	Chr18:62101090 [GRCh38] Chr18:59768323 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.2309A>G (p.Asn770Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001065565]	Chr18:62088817 [GRCh38] Chr18:59756050 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2191C>T (p.Leu731Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001049562]	Chr18:62090568 [GRCh38] Chr18:59757801 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1530A>G (p.Val510=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001049596]	Chr18:62109878 [GRCh38] Chr18:59777111 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.1790del (p.Phe597fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000855531]	Chr18:62105612 [GRCh38] Chr18:59772845 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.805+3del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000796904]	Chr18:62146968 [GRCh38] Chr18:59814201 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.200A>G (p.Asn67Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000809427]	Chr18:62161154 [GRCh38] Chr18:59828387 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1251+8_1251+9insTGTC	insertion	not provided [RCV000896976]	Chr18:62114552..62114553 [GRCh38] Chr18:59781785..59781786 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.550-6A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001409581]	Chr18:62148344 [GRCh38] Chr18:59815577 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-7C>T	single nucleotide variant	not provided [RCV000920955]	Chr18:62147108 [GRCh38] Chr18:59814341 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2412A>G (p.Ile804Met)	single nucleotide variant	Inborn genetic diseases [RCV004030086]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002550578]\|PIGN-related disorder [RCV003943292]	Chr18:62085223 [GRCh38] Chr18:59752456 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1749G>C (p.Arg583=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000968929]	Chr18:62106807 [GRCh38] Chr18:59774040 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2411T>A (p.Ile804Lys)	single nucleotide variant	Inborn genetic diseases [RCV004030049]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002549568]\|PIGN-related disorder [RCV003943283]	Chr18:62085224 [GRCh38] Chr18:59752457 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2085C>T (p.Ser695=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000919931]	Chr18:62095943 [GRCh38] Chr18:59763176 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.744C>T (p.Phe248=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000949155]	Chr18:62147032 [GRCh38] Chr18:59814265 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2166A>G (p.Leu722=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003525986]	Chr18:62095862 [GRCh38] Chr18:59763095 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2022A>G (p.Leu674=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000952061]\|PIGN-related disorder [RCV003903229]\|not provided [RCV003884824]	Chr18:62101130 [GRCh38] Chr18:59768363 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.1659G>C (p.Leu553=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000952064]	Chr18:62107001 [GRCh38] Chr18:59774234 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1396C>T (p.His466Tyr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000909913]\|not provided [RCV001766794]	Chr18:62113172 [GRCh38] Chr18:59780405 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.567C>T (p.Ala189=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002544557]	Chr18:62148321 [GRCh38] Chr18:59815554 [GRCh37] Chr18:18q21.33	likely benign
NC_000018.10:g.62072730dup	duplication	not provided [RCV000841089]	Chr18:18q21.33	benign
NM_176787.5(PIGN):c.76T>C (p.Ser26Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000797540]	Chr18:62161278 [GRCh38] Chr18:59828511 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1214C>T (p.Ala405Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000804585]	Chr18:62114598 [GRCh38] Chr18:59781831 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.490G>A (p.Glu164Lys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000822950]\|not provided [RCV001539657]	Chr18:62154604 [GRCh38] Chr18:59821837 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.1985T>C (p.Leu662Pro)	single nucleotide variant	Inborn genetic diseases [RCV004958131]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000809611]	Chr18:62101167 [GRCh38] Chr18:59768400 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1729G>C (p.Ala577Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000817553]	Chr18:62106827 [GRCh38] Chr18:59774060 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.10:g.(?_62154545)_(62157808_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000816623]	Chr18:62154545..62157808 [GRCh38] Chr18:59821778..59825041 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2583_2584insTC (p.Leu862fs)	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000819745]	Chr18:62074814..62074815 [GRCh38] Chr18:59742047..59742048 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2318T>C (p.Ile773Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000805117]\|not provided [RCV001772081]	Chr18:62088808 [GRCh38] Chr18:59756041 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2577C>A (p.Ser859Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000801691]	Chr18:62074821 [GRCh38] Chr18:59742054 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.9:g.(?_59755969)_(59770155_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000794819]	Chr18:62088736..62102922 [GRCh38] Chr18:59755969..59770155 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1603T>C (p.Ser535Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000800456]	Chr18:62107057 [GRCh38] Chr18:59774290 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2469T>A (p.Ser823Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000820345]	Chr18:62084564 [GRCh38] Chr18:59751797 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1627C>T (p.His543Tyr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000815400]	Chr18:62107033 [GRCh38] Chr18:59774266 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.564T>C (p.His188=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000916039]\|not provided [RCV004704318]	Chr18:62148324 [GRCh38] Chr18:59815557 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1790T>C (p.Phe597Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000796828]	Chr18:62105612 [GRCh38] Chr18:59772845 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.10:g.62138299C=	single nucleotide variant	not provided [RCV000837249]	Chr18:59805532 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2674A>G (p.Ile892Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000809682]	Chr18:62045978 [GRCh38] Chr18:59713211 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000803122]\|not provided [RCV001091658]	Chr18:62157746 [GRCh38] Chr18:59824979 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.2447A>G (p.Tyr816Cys)	single nucleotide variant	Inborn genetic diseases [RCV003243304]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000796631]\|not provided [RCV000992537]	Chr18:62084586 [GRCh38] Chr18:59751819 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1693C>T (p.Arg565Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000801118]	Chr18:62106863 [GRCh38] Chr18:59774096 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1853C>T (p.Ser618Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000817596]	Chr18:62105549 [GRCh38] Chr18:59772782 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.781T>A (p.Ser261Thr)	single nucleotide variant	Inborn genetic diseases [RCV003307552]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000821232]	Chr18:62146995 [GRCh38] Chr18:59814228 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.953A>T (p.Asp318Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000795366]	Chr18:62143316 [GRCh38] Chr18:59810549 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2620-1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000821838]	Chr18:62072726 [GRCh38] Chr18:59739959 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1251+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000823768]\|not provided [RCV004822236]	Chr18:62114560 [GRCh38] Chr18:59781793 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000990114]	Chr18:62161194 [GRCh38] Chr18:59828427 [GRCh37] Chr18:18q21.33	likely pathogenic\|conflicting interpretations of pathogenicity
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	copy number loss	not provided [RCV001007018]	Chr18:56750525..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
NM_176787.5(PIGN):c.2077+2T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000809612]	Chr18:62101073 [GRCh38] Chr18:59768306 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2475T>G (p.Phe825Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000814814]	Chr18:62084558 [GRCh38] Chr18:59751791 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2494A>T (p.Met832Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000821377]	Chr18:62084539 [GRCh38] Chr18:59751772 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000791032]\|Neurodevelopmental delay [RCV000856697]	Chr18:62157194 [GRCh38] Chr18:59824427 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1860-1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000820546]	Chr18:62102903 [GRCh38] Chr18:59770136 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1688dup (p.Tyr564fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000795367]	Chr18:62106867..62106868 [GRCh38] Chr18:59774100..59774101 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1278T>A (p.His426Gln)	single nucleotide variant	Inborn genetic diseases [RCV004958160]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000819001]\|not provided [RCV001759598]	Chr18:62113290 [GRCh38] Chr18:59780523 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2283G>A (p.Lys761=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000794435]	Chr18:62090476 [GRCh38] Chr18:59757709 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.473G>T (p.Ser158Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000791753]	Chr18:62154621 [GRCh38] Chr18:59821854 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000816294]\|not provided [RCV003151817]	Chr18:62090522 [GRCh38] Chr18:59757755 [GRCh37] Chr18:18q21.33	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_176787.5(PIGN):c.1167A>G (p.Pro389=)	single nucleotide variant	not provided [RCV000915785]	Chr18:62138248 [GRCh38] Chr18:59805481 [GRCh37] Chr18:18q21.33	likely benign
NC_000018.9:g.(?_59713069)_(60131307_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000803267]	Chr18:62045836..62464074 [GRCh38] Chr18:59713069..60131307 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.959A>G (p.Asn320Ser)	single nucleotide variant	Inborn genetic diseases [RCV004958138]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000813636]\|not provided [RCV001796244]	Chr18:62143310 [GRCh38] Chr18:59810543 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2620-17_2620-16dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001518078]\|not provided [RCV000841090]	Chr18:62072729..62072730 [GRCh38] Chr18:59739962..59739963 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1494dup (p.Leu499fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000815893]\|not provided [RCV003128713]	Chr18:62109913..62109914 [GRCh38] Chr18:59777146..59777147 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.724G>A (p.Val242Met)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000823916]	Chr18:62147052 [GRCh38] Chr18:59814285 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.26T>G (p.Leu9Trp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001058063]	Chr18:62161328 [GRCh38] Chr18:59828561 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	copy number gain	not provided [RCV000847118]	Chr18:45621155..61416536 [GRCh37] Chr18:18q21.1-21.33	pathogenic
NM_176787.5(PIGN):c.1189A>T (p.Lys397Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001055465]	Chr18:62114623 [GRCh38] Chr18:59781856 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.662G>A (p.Arg221Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001228968]	Chr18:62148226 [GRCh38] Chr18:59815459 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1942G>A (p.Glu648Lys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001211066]	Chr18:62102820 [GRCh38] Chr18:59770053 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1245_1250delinsC (p.Glu416fs)	indel	not provided [RCV001008343]	Chr18:62114562..62114567 [GRCh38] Chr18:59781795..59781800 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.881A>G (p.Gln294Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001060984]\|not provided [RCV001788414]	Chr18:62145950 [GRCh38] Chr18:59813183 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.562C>A (p.His188Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001212943]	Chr18:62148326 [GRCh38] Chr18:59815559 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.938A>C (p.Asn313Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001219979]\|not provided [RCV002275312]	Chr18:62143331 [GRCh38] Chr18:59810564 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2067G>C (p.Trp689Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001208773]	Chr18:62101085 [GRCh38] Chr18:59768318 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.788A>G (p.His263Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001239276]	Chr18:62146988 [GRCh38] Chr18:59814221 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2213G>A (p.Cys738Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004659389]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001206021]	Chr18:62090546 [GRCh38] Chr18:59757779 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.805+2T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001206192]	Chr18:62146969 [GRCh38] Chr18:59814202 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.620del (p.Phe207fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001239561]	Chr18:62148268 [GRCh38] Chr18:59815501 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1697A>G (p.Tyr566Cys)	single nucleotide variant	Inborn genetic diseases [RCV004032451]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001222770]\|not provided [RCV003127698]	Chr18:62106859 [GRCh38] Chr18:59774092 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1505A>G (p.Gln502Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001239425]\|not provided [RCV001760260]\|not specified [RCV004690029]	Chr18:62109903 [GRCh38] Chr18:59777136 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.549+5G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001240037]	Chr18:62154540 [GRCh38] Chr18:59821773 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.200A>C (p.Asn67Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001223748]	Chr18:62161154 [GRCh38] Chr18:59828387 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.362T>C (p.Val121Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001209667]	Chr18:62157209 [GRCh38] Chr18:59824442 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2271_2283+1del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001245837]	Chr18:62090475..62090488 [GRCh38] Chr18:59757708..59757721 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1514C>T (p.Pro505Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001221770]	Chr18:62109894 [GRCh38] Chr18:59777127 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1529_1534del (p.Val510_Tyr511del)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001224365]	Chr18:62109874..62109879 [GRCh38] Chr18:59777107..59777112 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1688T>C (p.Phe563Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001221727]	Chr18:62106868 [GRCh38] Chr18:59774101 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1417G>A (p.Val473Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001223459]\|not provided [RCV001773504]	Chr18:62113151 [GRCh38] Chr18:59780384 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1091C>G (p.Ala364Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001202004]	Chr18:62139008 [GRCh38] Chr18:59806241 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2443_2450del (p.Val815fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001204482]	Chr18:62084583..62084590 [GRCh38] Chr18:59751816..59751823 [GRCh37] Chr18:18q21.33	pathogenic
GRCh37/hg19 18q21.33(chr18:59749354-59818707)x1	copy number loss	not provided [RCV000846738]	Chr18:59749354..59818707 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.328_549+1908del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001246214]	Chr18:62152637..62157702 [GRCh38] Chr18:59819870..59824935 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2444T>C (p.Val815Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001061925]	Chr18:62084589 [GRCh38] Chr18:59751822 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.549+58G>A	single nucleotide variant	not provided [RCV001549869]	Chr18:62154487 [GRCh38] Chr18:59821720 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.922+75A>G	single nucleotide variant	not provided [RCV001582265]	Chr18:62145834 [GRCh38] Chr18:59813067 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.550-250G>A	single nucleotide variant	not provided [RCV001572558]	Chr18:62148588 [GRCh38] Chr18:59815821 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.*125A>G	single nucleotide variant	not provided [RCV001569483]	Chr18:62045731 [GRCh38] Chr18:59712964 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2078-173G>A	single nucleotide variant	not provided [RCV001569676]	Chr18:62096123 [GRCh38] Chr18:59763356 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-239G>A	single nucleotide variant	not provided [RCV001560321]	Chr18:62084845 [GRCh38] Chr18:59752078 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.964-20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002072124]\|not provided [RCV001560448]	Chr18:62140499 [GRCh38] Chr18:59807732 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.2503-305T>C	single nucleotide variant	not provided [RCV001560505]	Chr18:62083051 [GRCh38] Chr18:59750284 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1859+241C>A	single nucleotide variant	not provided [RCV001590355]	Chr18:62105302 [GRCh38] Chr18:59772535 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2502+180A>T	single nucleotide variant	not provided [RCV001549852]	Chr18:62084351 [GRCh38] Chr18:59751584 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.550-311C>G	single nucleotide variant	not provided [RCV001715910]	Chr18:62148649 [GRCh38] Chr18:59815882 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1116+197_1116+198del	microsatellite	not provided [RCV001639121]	Chr18:62138785..62138786 [GRCh38] Chr18:59806018..59806019 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.805+27C>A	single nucleotide variant	not provided [RCV001639439]	Chr18:62146944 [GRCh38] Chr18:59814177 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2503-155G>T	single nucleotide variant	not provided [RCV001654415]	Chr18:62082901 [GRCh38] Chr18:59750134 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.-32-151G>A	single nucleotide variant	not provided [RCV001676575]	Chr18:62161536 [GRCh38] Chr18:59828769 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1251+201del	deletion	not provided [RCV001562959]	Chr18:62114360 [GRCh38] Chr18:59781593 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2180+66T>G	single nucleotide variant	not provided [RCV001563137]	Chr18:62095782 [GRCh38] Chr18:59763015 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1859+247dup	duplication	not provided [RCV001592364]	Chr18:62105287..62105288 [GRCh38] Chr18:59772520..59772521 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1434+197G>C	single nucleotide variant	not provided [RCV001693935]	Chr18:62112937 [GRCh38] Chr18:59780170 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2078-228G>T	single nucleotide variant	not provided [RCV001670591]	Chr18:62096178 [GRCh38] Chr18:59763411 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1575-50C>G	single nucleotide variant	not provided [RCV001559057]	Chr18:62107135 [GRCh38] Chr18:59774368 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2371-150G>T	single nucleotide variant	not provided [RCV001673606]	Chr18:62085414 [GRCh38] Chr18:59752647 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1172+110A>G	single nucleotide variant	not provided [RCV001694733]	Chr18:62138133 [GRCh38] Chr18:59805366 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1173-219T>C	single nucleotide variant	not provided [RCV001540640]	Chr18:62114858 [GRCh38] Chr18:59782091 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.295G>A (p.Val99Ile)	single nucleotide variant	not provided [RCV001531448]	Chr18:62157735 [GRCh38] Chr18:59824968 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2457G>T (p.Leu819=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001470588]	Chr18:62084576 [GRCh38] Chr18:59751809 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1485A>C (p.Val495=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001473826]	Chr18:62109923 [GRCh38] Chr18:59777156 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1005C>T (p.Pro335=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000978518]	Chr18:62140438 [GRCh38] Chr18:59807671 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2202A>C (p.Leu734=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001469337]	Chr18:62090557 [GRCh38] Chr18:59757790 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.51C>T (p.Ala17=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000918997]\|PIGN-related disorder [RCV003960374]	Chr18:62161303 [GRCh38] Chr18:59828536 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1932C>T (p.Ser644=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003525998]	Chr18:62102830 [GRCh38] Chr18:59770063 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.882A>G (p.Gln294=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001404707]\|not provided [RCV003413731]	Chr18:62145949 [GRCh38] Chr18:59813182 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1408A>G (p.Ile470Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001067624]\|not provided [RCV002222666]	Chr18:62113160 [GRCh38] Chr18:59780393 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2155T>C (p.Ser719Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001226472]	Chr18:62095873 [GRCh38] Chr18:59763106 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2068G>T (p.Ala690Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001214417]	Chr18:62101084 [GRCh38] Chr18:59768317 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2761dup (p.Arg921fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001219179]	Chr18:62045890..62045891 [GRCh38] Chr18:59713123..59713124 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.550-8A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001069714]	Chr18:62148346 [GRCh38] Chr18:59815579 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.344-1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001219414]	Chr18:62157228 [GRCh38] Chr18:59824461 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.709G>A (p.Gly237Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001069867]\|not specified [RCV004689984]	Chr18:62147067 [GRCh38] Chr18:59814300 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.905A>T (p.Asp302Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001230893]	Chr18:62145926 [GRCh38] Chr18:59813159 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1593C>A (p.Asp531Glu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001054535]	Chr18:62107067 [GRCh38] Chr18:59774300 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2038C>G (p.Leu680Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001205959]	Chr18:62101114 [GRCh38] Chr18:59768347 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1508C>T (p.Ala503Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001237428]	Chr18:62109900 [GRCh38] Chr18:59777133 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1313A>G (p.Tyr438Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001057214]	Chr18:62113255 [GRCh38] Chr18:59780488 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.366G>C (p.Glu122Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001209644]	Chr18:62157205 [GRCh38] Chr18:59824438 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.344-1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001064661]	Chr18:62157228 [GRCh38] Chr18:59824461 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2733G>C (p.Leu911=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000912812]\|not provided [RCV004704313]	Chr18:62045919 [GRCh38] Chr18:59713152 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2178A>G (p.Thr726=)	single nucleotide variant	not provided [RCV000912902]	Chr18:62095850 [GRCh38] Chr18:59763083 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1818A>G (p.Pro606=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001504174]	Chr18:62105584 [GRCh38] Chr18:59772817 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2724C>T (p.Leu908=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000913463]\|not provided [RCV001564595]	Chr18:62045928 [GRCh38] Chr18:59713161 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.468A>G (p.Thr156=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005092719]	Chr18:62154626 [GRCh38] Chr18:59821859 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1404C>T (p.Asn468=)	single nucleotide variant	Inborn genetic diseases [RCV002390898]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000912563]\|PIGN-related disorder [RCV004753111]	Chr18:62113164 [GRCh38] Chr18:59780397 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1675-8A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000890738]\|not provided [RCV001593125]	Chr18:62106889 [GRCh38] Chr18:59774122 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2077+313T>G	single nucleotide variant	not provided [RCV001562172]	Chr18:62100762 [GRCh38] Chr18:59767995 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2077+54A>T	single nucleotide variant	not provided [RCV001572074]	Chr18:62101021 [GRCh38] Chr18:59768254 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2595C>T (p.Leu865=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002071988]\|not provided [RCV001545562]	Chr18:62074803 [GRCh38] Chr18:59742036 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1859+191G>A	single nucleotide variant	not provided [RCV001621007]	Chr18:62105352 [GRCh38] Chr18:59772585 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1172+204G>T	single nucleotide variant	not provided [RCV001637164]	Chr18:62138039 [GRCh38] Chr18:59805272 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2619+156del	deletion	not provided [RCV001551665]	Chr18:62074623 [GRCh38] Chr18:59741856 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1575-90A>C	single nucleotide variant	not provided [RCV001637465]	Chr18:62107175 [GRCh38] Chr18:59774408 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1023+96dup	duplication	not provided [RCV001677558]	Chr18:62140314..62140315 [GRCh38] Chr18:59807547..59807548 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.963+46A>G	single nucleotide variant	not provided [RCV001688944]	Chr18:62143260 [GRCh38] Chr18:59810493 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2426+272C>T	single nucleotide variant	not provided [RCV001620234]	Chr18:62084937 [GRCh38] Chr18:59752170 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2370+186T>A	single nucleotide variant	not provided [RCV001635915]	Chr18:62088570 [GRCh38] Chr18:59755803 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1077C>G (p.Ser359Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641006]\|not provided [RCV002255066]	Chr18:62139022 [GRCh38] Chr18:59806255 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.675-321A>C	single nucleotide variant	not provided [RCV001555017]	Chr18:62147422 [GRCh38] Chr18:59814655 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-70A>G	single nucleotide variant	not provided [RCV001555586]	Chr18:62090648 [GRCh38] Chr18:59757881 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2426+49A>G	single nucleotide variant	not provided [RCV001560979]	Chr18:62085160 [GRCh38] Chr18:59752393 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1024-137A>T	single nucleotide variant	not provided [RCV001555965]	Chr18:62139212 [GRCh38] Chr18:59806445 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2502+49A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001788830]\|not provided [RCV001715908]	Chr18:62084482 [GRCh38] Chr18:59751715 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1251+185_1251+186dup	duplication	not provided [RCV001715930]	Chr18:62114359..62114360 [GRCh38] Chr18:59781592..59781593 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.*178dup	duplication	not provided [RCV001608360]	Chr18:62045677..62045678 [GRCh38] Chr18:59712910..59712911 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2078-269G>A	single nucleotide variant	not provided [RCV001655078]	Chr18:62096219 [GRCh38] Chr18:59763452 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1251+185dup	duplication	not provided [RCV001593754]	Chr18:62114359..62114360 [GRCh38] Chr18:59781592..59781593 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.964-46T>C	single nucleotide variant	not provided [RCV001673573]	Chr18:62140525 [GRCh38] Chr18:59807758 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2284-231C>G	single nucleotide variant	not provided [RCV001595473]	Chr18:62089073 [GRCh38] Chr18:59756306 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1172+294C>A	single nucleotide variant	not provided [RCV001619553]	Chr18:62137949 [GRCh38] Chr18:59805182 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1574+189T>C	single nucleotide variant	not provided [RCV001656425]	Chr18:62109645 [GRCh38] Chr18:59776878 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1116+220A>G	single nucleotide variant	not provided [RCV001617514]	Chr18:62138763 [GRCh38] Chr18:59805996 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1768-59C>T	single nucleotide variant	not provided [RCV001614816]	Chr18:62105693 [GRCh38] Chr18:59772926 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.343+171A>G	single nucleotide variant	not provided [RCV001715917]	Chr18:62157516 [GRCh38] Chr18:59824749 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1435-244A>G	single nucleotide variant	not provided [RCV001613714]	Chr18:62110217 [GRCh38] Chr18:59777450 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.675-332G>T	single nucleotide variant	not provided [RCV001670906]	Chr18:62147433 [GRCh38] Chr18:59814666 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1252-281C>T	single nucleotide variant	not provided [RCV001598886]	Chr18:62113597 [GRCh38] Chr18:59780830 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.805+119A>G	single nucleotide variant	not provided [RCV001684278]	Chr18:62146852 [GRCh38] Chr18:59814085 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1172+147A>G	single nucleotide variant	not provided [RCV001588724]	Chr18:62138096 [GRCh38] Chr18:59805329 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.222-68T>G	single nucleotide variant	not provided [RCV001656652]	Chr18:62157876 [GRCh38] Chr18:59825109 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1767G>A (p.Lys589=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001245902]\|not provided [RCV002246232]	Chr18:62106789 [GRCh38] Chr18:59774022 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.443G>T (p.Gly148Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001059875]	Chr18:62154651 [GRCh38] Chr18:59821884 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1768-246T>C	single nucleotide variant	not provided [RCV001564645]	Chr18:62105880 [GRCh38] Chr18:59773113 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2167C>T (p.Leu723Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001061652]\|not provided [RCV004783894]	Chr18:62095861 [GRCh38] Chr18:59763094 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2426+87T>A	single nucleotide variant	not provided [RCV001671869]	Chr18:62085122 [GRCh38] Chr18:59752355 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2427-9A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001062186]	Chr18:62084615 [GRCh38] Chr18:59751848 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.443-176G>A	single nucleotide variant	not provided [RCV001649009]	Chr18:62154827 [GRCh38] Chr18:59822060 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.922+26T>C	single nucleotide variant	not provided [RCV001685021]	Chr18:62145883 [GRCh38] Chr18:59813116 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.674+163C>G	single nucleotide variant	not provided [RCV001684519]	Chr18:62148051 [GRCh38] Chr18:59815284 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1574+56A>G	single nucleotide variant	not provided [RCV001682080]	Chr18:62109778 [GRCh38] Chr18:59777011 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1172+76A>C	single nucleotide variant	not provided [RCV001669432]	Chr18:62138167 [GRCh38] Chr18:59805400 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1023+36dup	duplication	not provided [RCV001684541]	Chr18:62140375..62140376 [GRCh38] Chr18:59807608..59807609 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1575-88G>C	single nucleotide variant	not provided [RCV001611299]	Chr18:62107173 [GRCh38] Chr18:59774406 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.549+66C>T	single nucleotide variant	not provided [RCV001694349]	Chr18:62154479 [GRCh38] Chr18:59821712 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1379T>C (p.Leu460Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001089578]	Chr18:62113189 [GRCh38] Chr18:59780422 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2371-195G>A	single nucleotide variant	not provided [RCV001681237]	Chr18:62085459 [GRCh38] Chr18:59752692 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.675-278A>T	single nucleotide variant	not provided [RCV001643285]	Chr18:62147379 [GRCh38] Chr18:59814612 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.442+153T>A	single nucleotide variant	not provided [RCV001651636]	Chr18:62156976 [GRCh38] Chr18:59824209 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1859+152T>A	single nucleotide variant	not provided [RCV001684790]	Chr18:62105391 [GRCh38] Chr18:59772624 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.873G>C (p.Lys291Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001039395]	Chr18:62145958 [GRCh38] Chr18:59813191 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.527C>T (p.Thr176Met)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001231587]	Chr18:62154567 [GRCh38] Chr18:59821800 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.505C>T (p.Gln169Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001214600]	Chr18:62154589 [GRCh38] Chr18:59821822 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1280T>C (p.Leu427Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001040414]	Chr18:62113288 [GRCh38] Chr18:59780521 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1486G>A (p.Ala496Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001214857]	Chr18:62109922 [GRCh38] Chr18:59777155 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001214967]\|not provided [RCV001836970]	Chr18:62161191 [GRCh38] Chr18:59828424 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.1202T>G (p.Ile401Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001216218]	Chr18:62114610 [GRCh38] Chr18:59781843 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2647G>A (p.Gly883Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001050013]	Chr18:62072698 [GRCh38] Chr18:59739931 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2397dup (p.Gly800fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001050014]	Chr18:62085237..62085238 [GRCh38] Chr18:59752470..59752471 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1684T>A (p.Phe562Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001051197]	Chr18:62106872 [GRCh38] Chr18:59774105 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001204978]\|not provided [RCV001091657]	Chr18:62114561..62114565 [GRCh38] Chr18:59781794..59781798 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.2413G>A (p.Ala805Thr)	single nucleotide variant	Inborn genetic diseases [RCV003160319]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001044163]\|not provided [RCV001759755]	Chr18:62085222 [GRCh38] Chr18:59752455 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1871G>T (p.Gly624Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001036053]	Chr18:62102891 [GRCh38] Chr18:59770124 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1708G>A (p.Ala570Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001044690]\|not provided [RCV001568733]	Chr18:62106848 [GRCh38] Chr18:59774081 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.713T>C (p.Val238Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001202406]	Chr18:62147063 [GRCh38] Chr18:59814296 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2089G>T (p.Val697Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001232633]	Chr18:62095939 [GRCh38] Chr18:59763172 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1485del (p.Ala496fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001204273]	Chr18:62109923 [GRCh38] Chr18:59777156 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2746A>G (p.Thr916Ala)	single nucleotide variant	Inborn genetic diseases [RCV004960560]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001217354]	Chr18:62045906 [GRCh38] Chr18:59713139 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1734G>T (p.Trp578Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001218071]	Chr18:62106822 [GRCh38] Chr18:59774055 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2577-1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001037278]	Chr18:62074822 [GRCh38] Chr18:59742055 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2441_2442del (p.Ser814fs)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001045611]	Chr18:62084591..62084592 [GRCh38] Chr18:59751824..59751825 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1859+4T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001219495]	Chr18:62105539 [GRCh38] Chr18:59772772 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2283+3A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001037670]\|not provided [RCV004794477]	Chr18:62090473 [GRCh38] Chr18:59757706 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1276C>A (p.His426Asn)	single nucleotide variant	Inborn genetic diseases [RCV002563256]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001235645]	Chr18:62113292 [GRCh38] Chr18:59780525 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2644_2645insTGCC (p.Tyr882fs)	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001046781]	Chr18:62072700..62072701 [GRCh38] Chr18:59739933..59739934 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1251+5_1251+6insGCTATTTAT	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001230711]	Chr18:62114555..62114556 [GRCh38] Chr18:59781788..59781789 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2264G>A (p.Gly755Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001212062]	Chr18:62090495 [GRCh38] Chr18:59757728 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2635G>A (p.Val879Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001208284]	Chr18:62072710 [GRCh38] Chr18:59739943 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2203G>A (p.Val735Met)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001248076]	Chr18:62090556 [GRCh38] Chr18:59757789 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1562C>T (p.Ala521Val)	single nucleotide variant	Inborn genetic diseases [RCV004033961]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001215272]	Chr18:62109846 [GRCh38] Chr18:59777079 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2486C>A (p.Ala829Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001229341]	Chr18:62084547 [GRCh38] Chr18:59751780 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2768G>C (p.Cys923Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001066065]\|not provided [RCV003480944]	Chr18:62045884 [GRCh38] Chr18:59713117 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.880C>G (p.Gln294Glu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001042242]	Chr18:62145951 [GRCh38] Chr18:59813184 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2017A>G (p.Ser673Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001211071]\|not provided [RCV001773473]	Chr18:62101135 [GRCh38] Chr18:59768368 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	copy number gain	not provided [RCV001537911]	Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV002280357]	Chr18:61490305..80247612 [GRCh38] Chr18:18q21.33-23	pathogenic
NM_176787.5(PIGN):c.1859+3A>G	single nucleotide variant	not provided [RCV002280081]	Chr18:62105540 [GRCh38] Chr18:59772773 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001262004]	Chr18:62109851 [GRCh38] Chr18:59777084 [GRCh37] Chr18:18q21.33	likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	copy number gain	Trisomy 18 [RCV002280660]	Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_176787.5(PIGN):c.187G>C (p.Asp63His)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001964322]	Chr18:62161167 [GRCh38] Chr18:59828400 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.719A>T (p.Glu240Val)	single nucleotide variant	Inborn genetic diseases [RCV004952992]\|not provided [RCV001581377]	Chr18:62147057 [GRCh38] Chr18:59814290 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.9:g.(?_59805466)_(60131307_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001309949]	Chr18:59805466..60131307 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2671A>G (p.Ser891Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001305046]	Chr18:62072674 [GRCh38] Chr18:59739907 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1369T>G (p.Tyr457Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001314789]	Chr18:62113199 [GRCh38] Chr18:59780432 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.602A>G (p.Glu201Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001307901]	Chr18:62148286 [GRCh38] Chr18:59815519 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2288C>T (p.Thr763Ile)	single nucleotide variant	Inborn genetic diseases [RCV004960787]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001330539]	Chr18:62088838 [GRCh38] Chr18:59756071 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2290A>G (p.Ser764Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001308876]	Chr18:62088836 [GRCh38] Chr18:59756069 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1552A>G (p.Ile518Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001301898]	Chr18:62109856 [GRCh38] Chr18:59777089 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.963+6C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001320739]	Chr18:62143300 [GRCh38] Chr18:59810533 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.755A>G (p.Asp252Gly)	single nucleotide variant	not provided [RCV001310393]	Chr18:62147021 [GRCh38] Chr18:59814254 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.886G>A (p.Val296Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001351618]	Chr18:62145945 [GRCh38] Chr18:59813178 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1696T>C (p.Tyr566His)	single nucleotide variant	Inborn genetic diseases [RCV002402918]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001327141]	Chr18:62106860 [GRCh38] Chr18:59774093 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2078-3C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001294642]	Chr18:62095953 [GRCh38] Chr18:59763186 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.397A>T (p.Thr133Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001363413]	Chr18:62157174 [GRCh38] Chr18:59824407 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	copy number gain	Global developmental delay [RCV001352665]	Chr18:51925586..78010032 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.2672+7T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001391865]	Chr18:62072666 [GRCh38] Chr18:59739899 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1614C>G (p.Thr538=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001369015]	Chr18:62107046 [GRCh38] Chr18:59774279 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.1144A>G (p.Thr382Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001330538]	Chr18:62138271 [GRCh38] Chr18:59805504 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2272T>C (p.Cys758Arg)	single nucleotide variant	Inborn genetic diseases [RCV003284282]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001369509]	Chr18:62090487 [GRCh38] Chr18:59757720 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2411T>C (p.Ile804Thr)	single nucleotide variant	Inborn genetic diseases [RCV002447487]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001370626]\|not specified [RCV004770122]	Chr18:62085224 [GRCh38] Chr18:59752457 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1728A>G (p.Ala576=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001414860]	Chr18:62106828 [GRCh38] Chr18:59774061 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1967A>G (p.Gln656Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001294589]	Chr18:62102795 [GRCh38] Chr18:59770028 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1660G>A (p.Gly554Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001328536]	Chr18:62107000 [GRCh38] Chr18:59774233 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2000T>C (p.Val667Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001344678]	Chr18:62101152 [GRCh38] Chr18:59768385 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1052A>G (p.Asn351Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001325353]	Chr18:62139047 [GRCh38] Chr18:59806280 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2330G>A (p.Arg777Gln)	single nucleotide variant	Inborn genetic diseases [RCV002456438]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001321604]	Chr18:62088796 [GRCh38] Chr18:59756029 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2056A>G (p.Ile686Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001371230]	Chr18:62101096 [GRCh38] Chr18:59768329 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1415G>T (p.Gly472Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001306675]	Chr18:62113153 [GRCh38] Chr18:59780386 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter)	single nucleotide variant	Inborn genetic diseases [RCV002411995]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001388324]\|not provided [RCV001310392]	Chr18:62105565 [GRCh38] Chr18:59772798 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.2063G>A (p.Ser688Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001365302]	Chr18:62101089 [GRCh38] Chr18:59768322 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1891T>C (p.Ser631Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001318905]	Chr18:62102871 [GRCh38] Chr18:59770104 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.701T>C (p.Val234Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001347152]	Chr18:62147075 [GRCh38] Chr18:59814308 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.691A>G (p.Ile231Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001361353]	Chr18:62147085 [GRCh38] Chr18:59814318 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.2747C>T (p.Thr916Ile)	single nucleotide variant	Inborn genetic diseases [RCV002438814]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001351235]	Chr18:62045905 [GRCh38] Chr18:59713138 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.724G>T (p.Val242Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001345162]	Chr18:62147052 [GRCh38] Chr18:59814285 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2353C>T (p.Arg785Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001324291]	Chr18:62088773 [GRCh38] Chr18:59756006 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1835G>A (p.Gly612Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001322353]	Chr18:62105567 [GRCh38] Chr18:59772800 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.509A>G (p.Asp170Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001313221]\|not provided [RCV003320823]	Chr18:62154585 [GRCh38] Chr18:59821818 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2371G>A (p.Val791Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001361954]	Chr18:62085264 [GRCh38] Chr18:59752497 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.205A>G (p.Arg69Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001345433]	Chr18:62161149 [GRCh38] Chr18:59828382 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1948C>G (p.Leu650Val)	single nucleotide variant	Inborn genetic diseases [RCV004960822]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001343160]	Chr18:62102814 [GRCh38] Chr18:59770047 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.808T>A (p.Ser270Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001351620]	Chr18:62146023 [GRCh38] Chr18:59813256 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.757G>T (p.Gly253Trp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001364507]	Chr18:62147019 [GRCh38] Chr18:59814252 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.93A>T (p.Gly31=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001366221]	Chr18:62161261 [GRCh38] Chr18:59828494 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.2269T>C (p.Cys757Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001305436]	Chr18:62090490 [GRCh38] Chr18:59757723 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1528G>A (p.Val510Ile)	single nucleotide variant	Inborn genetic diseases [RCV004952840]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001370315]	Chr18:62109880 [GRCh38] Chr18:59777113 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1600G>A (p.Val534Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001351391]\|not provided [RCV001751687]	Chr18:62107060 [GRCh38] Chr18:59774293 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1212A>G (p.Lys404=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001412603]	Chr18:62114600 [GRCh38] Chr18:59781833 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1864G>C (p.Gly622Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001368025]	Chr18:62102898 [GRCh38] Chr18:59770131 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.274A>G (p.Thr92Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001307052]	Chr18:62157756 [GRCh38] Chr18:59824989 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2558_2561dup (p.Gln854fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001338485]	Chr18:62082687..62082688 [GRCh38] Chr18:59749920..59749921 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.885A>C (p.Arg295Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001370112]	Chr18:62145946 [GRCh38] Chr18:59813179 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1859+6A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001369017]	Chr18:62105537 [GRCh38] Chr18:59772770 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.810C>T (p.Ser270=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001414049]	Chr18:62146021 [GRCh38] Chr18:59813254 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2637C>T (p.Val879=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001414107]	Chr18:62072708 [GRCh38] Chr18:59739941 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1820T>G (p.Leu607Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001365986]	Chr18:62105582 [GRCh38] Chr18:59772815 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.375T>A (p.Ser125=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001475989]	Chr18:62157196 [GRCh38] Chr18:59824429 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2101C>T (p.Leu701=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001496700]\|not provided [RCV001574724]	Chr18:62095927 [GRCh38] Chr18:59763160 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.48C>T (p.Phe16=)	single nucleotide variant	Inborn genetic diseases [RCV002334523]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001491395]\|PIGN-related disorder [RCV003908759]	Chr18:62161306 [GRCh38] Chr18:59828539 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.648C>T (p.Asn216=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001476845]	Chr18:62148240 [GRCh38] Chr18:59815473 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.111A>G (p.Thr37=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001492947]	Chr18:62161243 [GRCh38] Chr18:59828476 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1023+18A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001518079]\|not provided [RCV001541332]	Chr18:62140402 [GRCh38] Chr18:59807635 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2181-10_2181-7del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001415861]	Chr18:62090585..62090588 [GRCh38] Chr18:59757818..59757821 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.540T>C (p.Asp180=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001485692]	Chr18:62154554 [GRCh38] Chr18:59821787 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1251+7A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001460835]	Chr18:62114554 [GRCh38] Chr18:59781787 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1859+17A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001518495]\|not provided [RCV001655771]	Chr18:62105526 [GRCh38] Chr18:59772759 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.923-1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001379611]	Chr18:62143347 [GRCh38] Chr18:59810580 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.723C>T (p.Ile241=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001463498]	Chr18:62147053 [GRCh38] Chr18:59814286 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.979T>C (p.Leu327=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001503896]	Chr18:62140464 [GRCh38] Chr18:59807697 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.705T>C (p.Asp235=)	single nucleotide variant	Inborn genetic diseases [RCV002368431]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001466456]	Chr18:62147071 [GRCh38] Chr18:59814304 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.276A>G (p.Thr92=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001501673]	Chr18:62157754 [GRCh38] Chr18:59824987 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2415T>G (p.Ala805=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001468984]	Chr18:62085220 [GRCh38] Chr18:59752453 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.344-5T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001401641]	Chr18:62157232 [GRCh38] Chr18:59824465 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.51C>G (p.Ala17=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001467832]	Chr18:62161303 [GRCh38] Chr18:59828536 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.669C>T (p.Ser223=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001488637]\|not provided [RCV004704614]	Chr18:62148219 [GRCh38] Chr18:59815452 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.726G>A (p.Val242=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001477935]	Chr18:62147050 [GRCh38] Chr18:59814283 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1803C>T (p.Leu601=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001409477]	Chr18:62105599 [GRCh38] Chr18:59772832 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1371T>C (p.Tyr457=)	single nucleotide variant	Inborn genetic diseases [RCV002384690]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001446674]\|not provided [RCV004704562]	Chr18:62113197 [GRCh38] Chr18:59780430 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-4C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001441922]	Chr18:62084610 [GRCh38] Chr18:59751843 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1353T>C (p.Phe451=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001407903]	Chr18:62113215 [GRCh38] Chr18:59780448 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1951T>C (p.Leu651=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001403711]	Chr18:62102811 [GRCh38] Chr18:59770044 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.806-5del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001410273]	Chr18:62146030 [GRCh38] Chr18:59813263 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1893C>T (p.Ser631=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001405811]	Chr18:62102869 [GRCh38] Chr18:59770102 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2423dup (p.Asn808fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001383780]	Chr18:62085211..62085212 [GRCh38] Chr18:59752444..59752445 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2313T>C (p.Thr771=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001447704]	Chr18:62088813 [GRCh38] Chr18:59756046 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-10_1173-9insA	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001410914]	Chr18:62114648..62114649 [GRCh38] Chr18:59781881..59781882 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2620-17_2620-15dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001445284]	Chr18:62072729..62072730 [GRCh38] Chr18:59739962..59739963 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.129G>A (p.Ala43=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001448024]	Chr18:62161225 [GRCh38] Chr18:59828458 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2673-8T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001393832]	Chr18:62045987 [GRCh38] Chr18:59713220 [GRCh37] Chr18:18q21.33	likely benign
NC_000018.9:g.(?_59763071)_(59763193_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001387115]	Chr18:59763071..59763193 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59755979)_(59810589_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001387116]	Chr18:59755979..59810589 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59805466)_(59806318_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001387117]	Chr18:59805466..59806318 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59768298)_(59770145_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001387118]	Chr18:59768298..59770145 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59819871)_59824934del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001387119]		pathogenic
NM_176787.5(PIGN):c.1435-13_1435-10del	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001448507]	Chr18:62109983..62109986 [GRCh38] Chr18:59777216..59777219 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+279G>A	single nucleotide variant	not provided [RCV001684015]	Chr18:62143027 [GRCh38] Chr18:59810260 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1848C>T (p.Asp616=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001451347]	Chr18:62105554 [GRCh38] Chr18:59772787 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2337A>C (p.Leu779=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001451620]	Chr18:62088789 [GRCh38] Chr18:59756022 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.120T>A (p.Pro40=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001462143]	Chr18:62161234 [GRCh38] Chr18:59828467 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1719T>C (p.Thr573=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001474173]\|not provided [RCV004809630]	Chr18:62106837 [GRCh38] Chr18:59774070 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.180C>T (p.Tyr60=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001451594]	Chr18:62161174 [GRCh38] Chr18:59828407 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2576+134T>C	single nucleotide variant	not provided [RCV001582272]	Chr18:62082539 [GRCh38] Chr18:59749772 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1575-91T>G	single nucleotide variant	not provided [RCV001592185]	Chr18:62107176 [GRCh38] Chr18:59774409 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-148A>C	single nucleotide variant	not provided [RCV001685105]	Chr18:62114787 [GRCh38] Chr18:59782020 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1254C>G (p.Val418=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001477118]	Chr18:62113314 [GRCh38] Chr18:59780547 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	copy number loss	not provided [RCV001531449]	Chr18:54285235..77960815 [GRCh37] Chr18:18q21.31-23	pathogenic
NM_176787.5(PIGN):c.1434+149_1434+150del	deletion	not provided [RCV001617650]	Chr18:62112984..62112985 [GRCh38] Chr18:59780217..59780218 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1023+49C>T	single nucleotide variant	not provided [RCV001644129]	Chr18:62140371 [GRCh38] Chr18:59807604 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2568G>A (p.Ser856=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001459998]	Chr18:62082681 [GRCh38] Chr18:59749914 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-83T>A	single nucleotide variant	not provided [RCV001715924]	Chr18:62114722 [GRCh38] Chr18:59781955 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.963+170C>G	single nucleotide variant	not provided [RCV001669913]	Chr18:62143136 [GRCh38] Chr18:59810369 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2619+14G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001522910]\|not provided [RCV001569056]	Chr18:62074765 [GRCh38] Chr18:59741998 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.1116+26G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001788632]\|not provided [RCV001619012]	Chr18:62138957 [GRCh38] Chr18:59806190 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1024-34A>T	single nucleotide variant	not provided [RCV001674447]	Chr18:62139109 [GRCh38] Chr18:59806342 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2181-38T>C	single nucleotide variant	not provided [RCV001653026]	Chr18:62090616 [GRCh38] Chr18:59757849 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.964-84T>A	single nucleotide variant	not provided [RCV001686195]	Chr18:62140563 [GRCh38] Chr18:59807796 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2371-245T>C	single nucleotide variant	not provided [RCV001655226]	Chr18:62085509 [GRCh38] Chr18:59752742 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.443-65C>T	single nucleotide variant	not provided [RCV001539364]	Chr18:62154716 [GRCh38] Chr18:59821949 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1251+11C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001518564]\|not provided [RCV001549738]	Chr18:62114550 [GRCh38] Chr18:59781783 [GRCh37] Chr18:18q21.33	benign\|likely benign
NM_176787.5(PIGN):c.1574+10G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001424983]	Chr18:62109824 [GRCh38] Chr18:59777057 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2025C>T (p.Leu675=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001501651]	Chr18:62101127 [GRCh38] Chr18:59768360 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2620-6_2620-5insTC	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001460882]	Chr18:62072730..62072731 [GRCh38] Chr18:59739963..59739964 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1207A>C (p.Arg403=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001484677]	Chr18:62114605 [GRCh38] Chr18:59781838 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.405C>T (p.Ser135=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001486001]	Chr18:62157166 [GRCh38] Chr18:59824399 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1680C>G (p.Leu560=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001503406]	Chr18:62106876 [GRCh38] Chr18:59774109 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2559T>A (p.Thr853=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001476228]	Chr18:62082690 [GRCh38] Chr18:59749923 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.888A>G (p.Val296=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001459096]\|not provided [RCV004704576]	Chr18:62145943 [GRCh38] Chr18:59813176 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-16dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001511838]	Chr18:62114647..62114648 [GRCh38] Chr18:59781880..59781881 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2136C>T (p.Ser712=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001429901]	Chr18:62095892 [GRCh38] Chr18:59763125 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.951A>G (p.Leu317=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001436887]	Chr18:62143318 [GRCh38] Chr18:59810551 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-6C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001503995]	Chr18:62101189 [GRCh38] Chr18:59768422 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.344-2A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001377538]	Chr18:62157229 [GRCh38] Chr18:59824462 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.681C>T (p.Tyr227=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001400941]	Chr18:62147095 [GRCh38] Chr18:59814328 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.443-247C>T	single nucleotide variant	not provided [RCV001536855]	Chr18:62154898 [GRCh38] Chr18:59822131 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.923-6T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001726505]	Chr18:62143352 [GRCh38] Chr18:59810585 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.370G>A (p.Asp124Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002272906]	Chr18:62157201 [GRCh38] Chr18:59824434 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1147T>G (p.Leu383Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002273198]	Chr18:62138268 [GRCh38] Chr18:59805501 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.407G>A (p.Trp136Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001782629]	Chr18:62157164 [GRCh38] Chr18:59824397 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2695A>G (p.Met899Val)	single nucleotide variant	not provided [RCV001772927]	Chr18:62045957 [GRCh38] Chr18:59713190 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1343T>C (p.Val448Ala)	single nucleotide variant	not provided [RCV001772417]	Chr18:62113225 [GRCh38] Chr18:59780458 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1648G>A (p.Ala550Thr)	single nucleotide variant	not provided [RCV001774209]	Chr18:62107012 [GRCh38] Chr18:59774245 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1968G>A (p.Gln656=)	single nucleotide variant	not provided [RCV001772626]	Chr18:62102794 [GRCh38] Chr18:59770027 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1363A>G (p.Ile455Val)	single nucleotide variant	not provided [RCV001765337]	Chr18:62113205 [GRCh38] Chr18:59780438 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2371-1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003845179]	Chr18:62085265 [GRCh38] Chr18:59752498 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.212C>T (p.Pro71Leu)	single nucleotide variant	Inborn genetic diseases [RCV004953039]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001868472]\|not provided [RCV001758375]	Chr18:62161142 [GRCh38] Chr18:59828375 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1976G>A (p.Ser659Asn)	single nucleotide variant	not provided [RCV004798527]	Chr18:62101176 [GRCh38] Chr18:59768409 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2619+87G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001809296]	Chr18:62074692 [GRCh38] Chr18:59741925 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1113C>G (p.Phe371Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001970805]	Chr18:62138986 [GRCh38] Chr18:59806219 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2026_2027del (p.Arg676fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001914611]	Chr18:62101125..62101126 [GRCh38] Chr18:59768358..59768359 [GRCh37] Chr18:18q21.33	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	copy number gain	not specified [RCV002052616]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	copy number loss	not specified [RCV002052641]	Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.1521del (p.Tyr508fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001946696]	Chr18:62109887 [GRCh38] Chr18:59777120 [GRCh37] Chr18:18q21.33	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	copy number loss	not specified [RCV002052646]	Chr18:53309113..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.108T>A (p.Phe36Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001926715]	Chr18:62161246 [GRCh38] Chr18:59828479 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2216T>G (p.Leu739Trp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002044900]	Chr18:62090543 [GRCh38] Chr18:59757776 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.439A>T (p.Lys147Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001863992]	Chr18:62157132 [GRCh38] Chr18:59824365 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.766A>G (p.Thr256Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002004300]	Chr18:62147010 [GRCh38] Chr18:59814243 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.736A>T (p.Asn246Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002548831]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002023471]	Chr18:62147040 [GRCh38] Chr18:59814273 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1173-1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002008960]	Chr18:62114640 [GRCh38] Chr18:59781873 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1574+1G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001988368]	Chr18:62109833 [GRCh38] Chr18:59777066 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1984C>T (p.Leu662Phe)	single nucleotide variant	Inborn genetic diseases [RCV002562929]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001985278]	Chr18:62101168 [GRCh38] Chr18:59768401 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.233T>C (p.Met78Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002023693]	Chr18:62157797 [GRCh38] Chr18:59825030 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.414C>G (p.Ser138Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001895590]	Chr18:62157157 [GRCh38] Chr18:59824390 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2018G>T (p.Ser673Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001971523]	Chr18:62101134 [GRCh38] Chr18:59768367 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2672+3A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001894835]	Chr18:62072670 [GRCh38] Chr18:59739903 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	copy number loss	not specified [RCV002052642]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	copy number loss	not specified [RCV002052643]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.2306A>G (p.Tyr769Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002002854]	Chr18:62088820 [GRCh38] Chr18:59756053 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	copy number loss	not specified [RCV002052647]	Chr18:58305972..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	copy number loss	not specified [RCV002052649]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
NM_176787.5(PIGN):c.804G>T (p.Trp268Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001889725]\|not provided [RCV002275265]	Chr18:62146972 [GRCh38] Chr18:59814205 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic\|uncertain significance
NC_000018.9:g.(?_59713089)_(61654512_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001898809]\|not provided [RCV001909119]	Chr18:59713089..61654512 [GRCh37] Chr18:18q21.33-22.1	pathogenic\|no classifications from unflagged records
NM_176787.5(PIGN):c.531G>C (p.Trp177Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001945965]	Chr18:62154563 [GRCh38] Chr18:59821796 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2293A>G (p.Ile765Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002022691]	Chr18:62088833 [GRCh38] Chr18:59756066 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.994A>G (p.Ile332Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001964579]	Chr18:62140449 [GRCh38] Chr18:59807682 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1253T>C (p.Val418Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001892649]	Chr18:62113315 [GRCh38] Chr18:59780548 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2672+4T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001987196]	Chr18:62072669 [GRCh38] Chr18:59739902 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2522T>C (p.Leu841Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001948809]	Chr18:62082727 [GRCh38] Chr18:59749960 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2242C>G (p.Gln748Glu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001945090]	Chr18:62090517 [GRCh38] Chr18:59757750 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.433T>C (p.Phe145Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002008152]	Chr18:62157138 [GRCh38] Chr18:59824371 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.222-13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002008189]	Chr18:62157821 [GRCh38] Chr18:59825054 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	copy number loss	not specified [RCV002052639]	Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1	pathogenic
NM_176787.5(PIGN):c.1678C>T (p.Leu560Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001908955]	Chr18:62106878 [GRCh38] Chr18:59774111 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.77C>G (p.Ser26Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001913094]	Chr18:62161277 [GRCh38] Chr18:59828510 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1958A>C (p.His653Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001969767]	Chr18:62102804 [GRCh38] Chr18:59770037 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.805+17T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001965552]	Chr18:62146954 [GRCh38] Chr18:59814187 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18q21.33(chr18:59765886-59818707)	copy number loss	not specified [RCV002052650]	Chr18:59765886..59818707 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1415G>A (p.Gly472Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001926914]	Chr18:62113153 [GRCh38] Chr18:59780386 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	copy number loss	not specified [RCV002052636]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
NM_176787.5(PIGN):c.1962_1963delinsAG (p.Leu655Val)	indel	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001944504]	Chr18:62102799..62102800 [GRCh38] Chr18:59770032..59770033 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2405G>A (p.Gly802Glu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001888102]	Chr18:62085230 [GRCh38] Chr18:59752463 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.221+1dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001999857]	Chr18:62161131..62161132 [GRCh38] Chr18:59828364..59828365 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2119T>C (p.Phe707Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002039051]	Chr18:62095909 [GRCh38] Chr18:59763142 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1249G>A (p.Val417Met)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002020302]\|not provided [RCV004774606]	Chr18:62114563 [GRCh38] Chr18:59781796 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1213G>A (p.Ala405Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001899741]	Chr18:62114599 [GRCh38] Chr18:59781832 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1675-1G>T	single nucleotide variant	Inborn genetic diseases [RCV002398116]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002027593]\|not provided [RCV003154234]	Chr18:62106882 [GRCh38] Chr18:59774115 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.1151C>T (p.Pro384Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002048703]	Chr18:62138264 [GRCh38] Chr18:59805497 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.45C>G (p.Phe15Leu)	single nucleotide variant	Inborn genetic diseases [RCV002334738]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001887867]	Chr18:62161309 [GRCh38] Chr18:59828542 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2251_2252del (p.Leu751fs)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001994740]	Chr18:62090507..62090508 [GRCh38] Chr18:59757740..59757741 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.587T>C (p.Phe196Ser)	single nucleotide variant	Inborn genetic diseases [RCV002352769]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002038726]	Chr18:62148301 [GRCh38] Chr18:59815534 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2771del (p.Gly924fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002017669]	Chr18:62045881 [GRCh38] Chr18:59713114 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1337A>G (p.Asn446Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001936289]	Chr18:62113231 [GRCh38] Chr18:59780464 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.565G>A (p.Ala189Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001886509]	Chr18:62148323 [GRCh38] Chr18:59815556 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1252-2A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002037574]\|not provided [RCV002286853]	Chr18:62113318 [GRCh38] Chr18:59780551 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.1217G>C (p.Arg406Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001941096]	Chr18:62114595 [GRCh38] Chr18:59781828 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.265C>T (p.Arg89Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001901573]\|not provided [RCV003442948]	Chr18:62157765 [GRCh38] Chr18:59824998 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2139A>G (p.Ile713Met)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001956903]	Chr18:62095889 [GRCh38] Chr18:59763122 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.394T>C (p.Tyr132His)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001933479]	Chr18:62157177 [GRCh38] Chr18:59824410 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1076G>C (p.Ser359Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001951816]	Chr18:62139023 [GRCh38] Chr18:59806256 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2668A>G (p.Thr890Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001951863]	Chr18:62072677 [GRCh38] Chr18:59739910 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2371-7C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002015619]	Chr18:62085271 [GRCh38] Chr18:59752504 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.9:g.(?_59713089)_(61654512_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002029497]	Chr18:59713089..61654512 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
NM_176787.5(PIGN):c.963+5C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001973044]	Chr18:62143301 [GRCh38] Chr18:59810534 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1173-8dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001975445]	Chr18:62114646..62114647 [GRCh38] Chr18:59781879..59781880 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.580T>G (p.Ser194Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001867604]	Chr18:62148308 [GRCh38] Chr18:59815541 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.963+5C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001897000]	Chr18:62143301 [GRCh38] Chr18:59810534 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2519T>C (p.Val840Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002027400]	Chr18:62082730 [GRCh38] Chr18:59749963 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.479A>G (p.Asp160Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001864906]	Chr18:62154615 [GRCh38] Chr18:59821848 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1748G>A (p.Arg583Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001978806]	Chr18:62106808 [GRCh38] Chr18:59774041 [GRCh37] Chr18:18q21.33	benign\|uncertain significance
NM_176787.5(PIGN):c.419A>G (p.Asp140Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002014766]	Chr18:62157152 [GRCh38] Chr18:59824385 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.460G>C (p.Val154Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001902283]	Chr18:62154634 [GRCh38] Chr18:59821867 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2181-2A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002012489]	Chr18:62090580 [GRCh38] Chr18:59757813 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.662G>T (p.Arg221Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001897381]	Chr18:62148226 [GRCh38] Chr18:59815459 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2408A>G (p.Asn803Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001990698]	Chr18:62085227 [GRCh38] Chr18:59752460 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.16A>T (p.Thr6Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002050212]	Chr18:62161338 [GRCh38] Chr18:59828571 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2312C>T (p.Thr771Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002030555]	Chr18:62088814 [GRCh38] Chr18:59756047 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.398C>T (p.Thr133Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001870227]	Chr18:62157173 [GRCh38] Chr18:59824406 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2555C>T (p.Thr852Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001935029]	Chr18:62082694 [GRCh38] Chr18:59749927 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1207A>G (p.Arg403Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002016218]	Chr18:62114605 [GRCh38] Chr18:59781838 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.970A>G (p.Ile324Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001979423]	Chr18:62140473 [GRCh38] Chr18:59807706 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2577C>G (p.Ser859Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001999456]	Chr18:62074821 [GRCh38] Chr18:59742054 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.404G>A (p.Ser135Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001954622]	Chr18:62157167 [GRCh38] Chr18:59824400 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2218A>C (p.Met740Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001932738]	Chr18:62090541 [GRCh38] Chr18:59757774 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1319G>A (p.Arg440Lys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001883988]	Chr18:62113249 [GRCh38] Chr18:59780482 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.963+12G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001956229]	Chr18:62143294 [GRCh38] Chr18:59810527 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1434+4C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001881704]	Chr18:62113130 [GRCh38] Chr18:59780363 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.725T>C (p.Val242Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001904874]	Chr18:62147051 [GRCh38] Chr18:59814284 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1665_1668dup (p.Val557Ter)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001934443]	Chr18:62106991..62106992 [GRCh38] Chr18:59774224..59774225 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1252-7T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001886088]	Chr18:62113323 [GRCh38] Chr18:59780556 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2301C>G (p.Phe767Leu)	single nucleotide variant	Inborn genetic diseases [RCV003264137]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001904372]\|not provided [RCV004785346]	Chr18:62088825 [GRCh38] Chr18:59756058 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2721C>G (p.Phe907Leu)	single nucleotide variant	Inborn genetic diseases [RCV003264186]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001884277]	Chr18:62045931 [GRCh38] Chr18:59713164 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2147C>G (p.Ser716Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001905219]	Chr18:62095881 [GRCh38] Chr18:59763114 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1768A>T (p.Met590Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001903688]	Chr18:62105634 [GRCh38] Chr18:59772867 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1575-4A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001905580]	Chr18:62107089 [GRCh38] Chr18:59774322 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.5T>C (p.Leu2Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001925173]	Chr18:62161349 [GRCh38] Chr18:59828582 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.646A>G (p.Asn216Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001896975]	Chr18:62148242 [GRCh38] Chr18:59815475 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.347G>A (p.Trp116Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001899762]	Chr18:62157224 [GRCh38] Chr18:59824457 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2701A>G (p.Met901Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001976414]	Chr18:62045951 [GRCh38] Chr18:59713184 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2502+19T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001960485]	Chr18:62084512 [GRCh38] Chr18:59751745 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.2651G>T (p.Ser884Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001935033]	Chr18:62072694 [GRCh38] Chr18:59739927 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.9:g.(?_59713089)_(60052267_?)dup	duplication	not provided [RCV001952957]	Chr18:59713089..60052267 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1312T>C (p.Tyr438His)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001880481]\|not provided [RCV005001243]	Chr18:62113256 [GRCh38] Chr18:59780489 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1116+3A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001923361]	Chr18:62138980 [GRCh38] Chr18:59806213 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.457C>T (p.His153Tyr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001878701]	Chr18:62154637 [GRCh38] Chr18:59821870 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2283+12A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002128562]	Chr18:62090464 [GRCh38] Chr18:59757697 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1860-14G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002208961]	Chr18:62102916 [GRCh38] Chr18:59770149 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.9G>A (p.Leu3=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002168858]	Chr18:62161345 [GRCh38] Chr18:59828578 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1434+11A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002187875]	Chr18:62113123 [GRCh38] Chr18:59780356 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2577-5del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002145602]	Chr18:62074826 [GRCh38] Chr18:59742059 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1821G>A (p.Leu607=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002086695]	Chr18:62105581 [GRCh38] Chr18:59772814 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.552C>T (p.Asp184=)	single nucleotide variant	Inborn genetic diseases [RCV002346391]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002209506]	Chr18:62148336 [GRCh38] Chr18:59815569 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.221+7A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002146183]	Chr18:62161126 [GRCh38] Chr18:59828359 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2078-4G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002185618]	Chr18:62095954 [GRCh38] Chr18:59763187 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2577-14_2577-13del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002170080]	Chr18:62074834..62074835 [GRCh38] Chr18:59742067..59742068 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+11C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002166629]	Chr18:62143295 [GRCh38] Chr18:59810528 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2078-17G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002105928]	Chr18:62095967 [GRCh38] Chr18:59763200 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1860-17A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002128665]	Chr18:62102919 [GRCh38] Chr18:59770152 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.999A>C (p.Gly333=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002107656]	Chr18:62140444 [GRCh38] Chr18:59807677 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1419T>C (p.Val473=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002075223]	Chr18:62113149 [GRCh38] Chr18:59780382 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.672G>A (p.Ser224=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002128935]	Chr18:62148216 [GRCh38] Chr18:59815449 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-19A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002166304]	Chr18:62101202 [GRCh38] Chr18:59768435 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.273A>G (p.Pro91=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002074844]	Chr18:62157757 [GRCh38] Chr18:59824990 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-18T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002075602]	Chr18:62114657 [GRCh38] Chr18:59781890 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1546C>T (p.Leu516=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002127007]	Chr18:62109862 [GRCh38] Chr18:59777095 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.855T>C (p.Thr285=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002078247]	Chr18:62145976 [GRCh38] Chr18:59813209 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-14T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002196650]	Chr18:62082760 [GRCh38] Chr18:59749993 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1117-8G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002170525]	Chr18:62138306 [GRCh38] Chr18:59805539 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.964-9dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002213172]	Chr18:62140487..62140488 [GRCh38] Chr18:59807720..59807721 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2078-15T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002175031]	Chr18:62095965 [GRCh38] Chr18:59763198 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.442+18T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002129924]	Chr18:62157111 [GRCh38] Chr18:59824344 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2589T>C (p.Ile863=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002151606]	Chr18:62074809 [GRCh38] Chr18:59742042 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1251+12G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002151493]	Chr18:62114549 [GRCh38] Chr18:59781782 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1117-20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002185482]	Chr18:62138318 [GRCh38] Chr18:59805551 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.922+13_922+16del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002132201]	Chr18:62145893..62145896 [GRCh38] Chr18:59813126..59813129 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.2502+10C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002125701]	Chr18:62084521 [GRCh38] Chr18:59751754 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2713T>C (p.Leu905=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002195629]	Chr18:62045939 [GRCh38] Chr18:59713172 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1574+12A>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002151901]	Chr18:62109822 [GRCh38] Chr18:59777055 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-18_675-17del	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002174923]	Chr18:62147118..62147119 [GRCh38] Chr18:59814351..59814352 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.344-19G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002197616]	Chr18:62157246 [GRCh38] Chr18:59824479 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1116+12del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002129367]	Chr18:62138971 [GRCh38] Chr18:59806204 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.147T>C (p.Phe49=)	single nucleotide variant	Inborn genetic diseases [RCV002391291]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002094191]	Chr18:62161207 [GRCh38] Chr18:59828440 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2337A>G (p.Leu779=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002194954]	Chr18:62088789 [GRCh38] Chr18:59756022 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1605A>C (p.Ser535=)	single nucleotide variant	not provided [RCV002214078]	Chr18:62107055 [GRCh38] Chr18:59774288 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.984G>A (p.Met328Ile)	single nucleotide variant	not provided [RCV002214079]	Chr18:62140459 [GRCh38] Chr18:59807692 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.343+14G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002096806]	Chr18:62157673 [GRCh38] Chr18:59824906 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+12G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002213578]	Chr18:62143294 [GRCh38] Chr18:59810527 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.443-7T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002174640]	Chr18:62154658 [GRCh38] Chr18:59821891 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.805+8T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002168371]	Chr18:62146963 [GRCh38] Chr18:59814196 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.852C>T (p.Val284=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002203117]	Chr18:62145979 [GRCh38] Chr18:59813212 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1935T>C (p.Phe645=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002158143]	Chr18:62102827 [GRCh38] Chr18:59770060 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-8T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002175952]	Chr18:62082754 [GRCh38] Chr18:59749987 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1024-8A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002200889]	Chr18:62139083 [GRCh38] Chr18:59806316 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.806-19C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002202558]	Chr18:62146044 [GRCh38] Chr18:59813277 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-10A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002159066]	Chr18:62084616 [GRCh38] Chr18:59751849 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1574+14C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002200909]	Chr18:62109820 [GRCh38] Chr18:59777053 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002250235]	Chr18:62109891 [GRCh38] Chr18:59777124 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.491_492del (p.Glu164fs)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002250236]	Chr18:62154602..62154603 [GRCh38] Chr18:59821835..59821836 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.442+17A>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002135500]	Chr18:62157112 [GRCh38] Chr18:59824345 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-15A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002081604]	Chr18:62082761 [GRCh38] Chr18:59749994 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1356G>A (p.Val452=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002163821]	Chr18:62113212 [GRCh38] Chr18:59780445 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2490G>T (p.Leu830=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002160701]	Chr18:62084543 [GRCh38] Chr18:59751776 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1374C>T (p.Ala458=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002084162]	Chr18:62113194 [GRCh38] Chr18:59780427 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2180+8C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002155125]	Chr18:62095840 [GRCh38] Chr18:59763073 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.923-9A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002184119]	Chr18:62143355 [GRCh38] Chr18:59810588 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2700C>T (p.Ser900=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002160749]	Chr18:62045952 [GRCh38] Chr18:59713185 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.442+16T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002083169]	Chr18:62157113 [GRCh38] Chr18:59824346 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2205G>A (p.Val735=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002177289]	Chr18:62090554 [GRCh38] Chr18:59757787 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2673-16T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002137420]	Chr18:62045995 [GRCh38] Chr18:59713228 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1095A>G (p.Val365=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002183227]	Chr18:62139004 [GRCh38] Chr18:59806237 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1252-21AT[2]	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002217418]	Chr18:62113332..62113333 [GRCh38] Chr18:59780565..59780566 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-20dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002176479]	Chr18:62084625..62084626 [GRCh38] Chr18:59751858..59751859 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1251+17T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002122456]	Chr18:62114544 [GRCh38] Chr18:59781777 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1574+11C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002137087]	Chr18:62109823 [GRCh38] Chr18:59777056 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2241A>G (p.Glu747=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002201311]	Chr18:62090518 [GRCh38] Chr18:59757751 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1116+12dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002135692]	Chr18:62138970..62138971 [GRCh38] Chr18:59806203..59806204 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.879C>G (p.Pro293=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002104143]	Chr18:62145952 [GRCh38] Chr18:59813185 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1024-16T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002100448]	Chr18:62139091 [GRCh38] Chr18:59806324 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1252-17A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002121091]	Chr18:62113333 [GRCh38] Chr18:59780566 [GRCh37] Chr18:18q21.33	likely benign
NC_000018.9:g.(?_59780347)_(59828586_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003113874]	Chr18:59780347..59828586 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.9:g.(?_59819870)_(59824935_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003113875]	Chr18:59819870..59824935 [GRCh37] Chr18:18q21.33	likely pathogenic
NC_000018.9:g.(?_59713069)_(59828606_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003113876]	Chr18:59713069..59828606 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59805456)_(59806328_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003113877]	Chr18:59805456..59806328 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59805456)_(60052267_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003113878]	Chr18:59805456..60052267 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.654T>C (p.His218=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003118390]	Chr18:62148234 [GRCh38] Chr18:59815467 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.704ATG[1] (p.Asp236del)	microsatellite	not provided [RCV002287169]	Chr18:62147067..62147069 [GRCh38] Chr18:59814300..59814302 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.310G>A (p.Gly104Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002290417]	Chr18:62157720 [GRCh38] Chr18:59824953 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.581C>T (p.Ser194Phe)	single nucleotide variant	not provided [RCV002267247]	Chr18:62148307 [GRCh38] Chr18:59815540 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1060C>T (p.Leu354Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002297230]	Chr18:62139039 [GRCh38] Chr18:59806272 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.329G>A (p.Ser110Asn)	single nucleotide variant	not provided [RCV003129425]	Chr18:62157701 [GRCh38] Chr18:59824934 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	copy number loss	not provided [RCV002473956]	Chr18:53624405..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.1858G>C (p.Val620Leu)	single nucleotide variant	Inborn genetic diseases [RCV002414868]	Chr18:62105544 [GRCh38] Chr18:59772777 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2673-514_2673-513insGCAAACCGGCCGGGCGGTGGCTGACGCCCTGTAATCCCAGCACTTTGGCAAAAGAAGGCCGAGGCGGGCGGATCACGAGGGTCAGGATATCGAGACAATTCCGGCTCTAAAACGGTGAAACCTCGTTCTATAAAAATATACCAAAACAATTAGACGGGCGTTGTGGCGGGCGCCTGTAAGTCCAGCTACCTTGGGAGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGGCGGAGCTTGCAGTCTGAGACGAGATCCCGCCACTGCACACAGCGCTGGGCGACAGAGCGCGAGACCCTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAGTGT	insertion	Schizophrenia [RCV002463556]	Chr18:62046492..62046493 [GRCh38] Chr18:59713725..59713726 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.33(chr18:59749355-59818707)x1	copy number loss	not provided [RCV002474987]	Chr18:59749355..59818707 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2476A>G (p.Met826Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003012595]	Chr18:62084557 [GRCh38] Chr18:59751790 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.298G>A (p.Ala100Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002295814]	Chr18:62157732 [GRCh38] Chr18:59824965 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2588T>C (p.Ile863Thr)	single nucleotide variant	Inborn genetic diseases [RCV002426109]	Chr18:62074810 [GRCh38] Chr18:59742043 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2751G>A (p.Thr917=)	single nucleotide variant	Inborn genetic diseases [RCV002439383]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003102179]	Chr18:62045901 [GRCh38] Chr18:59713134 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1375T>C (p.Ser459Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002304303]	Chr18:62113193 [GRCh38] Chr18:59780426 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.649G>A (p.Gly217Arg)	single nucleotide variant	Inborn genetic diseases [RCV002362028]\|not provided [RCV004554885]	Chr18:62148239 [GRCh38] Chr18:59815472 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2608A>G (p.Ile870Val)	single nucleotide variant	Inborn genetic diseases [RCV002426314]	Chr18:62074790 [GRCh38] Chr18:59742023 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1246G>A (p.Glu416Lys)	single nucleotide variant	Inborn genetic diseases [RCV002394157]	Chr18:62114566 [GRCh38] Chr18:59781799 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2224G>T (p.Val742Phe)	single nucleotide variant	Inborn genetic diseases [RCV002428123]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003101142]	Chr18:62090535 [GRCh38] Chr18:59757768 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2620C>A (p.His874Asn)	single nucleotide variant	Inborn genetic diseases [RCV002426401]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003102036]	Chr18:62072725 [GRCh38] Chr18:59739958 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2575A>C (p.Ser859Arg)	single nucleotide variant	Inborn genetic diseases [RCV002426035]	Chr18:62082674 [GRCh38] Chr18:59749907 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2489T>C (p.Leu830Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002299422]	Chr18:62084544 [GRCh38] Chr18:59751777 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.657T>C (p.Ala219=)	single nucleotide variant	Inborn genetic diseases [RCV002364508]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003098295]	Chr18:62148231 [GRCh38] Chr18:59815464 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1593C>T (p.Asp531=)	single nucleotide variant	Inborn genetic diseases [RCV002398482]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528391]	Chr18:62107067 [GRCh38] Chr18:59774300 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2636T>C (p.Val879Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002301558]	Chr18:62072709 [GRCh38] Chr18:59739942 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2501A>G (p.Lys834Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002751295]	Chr18:62084532 [GRCh38] Chr18:59751765 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2615C>G (p.Ala872Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002970828]	Chr18:62074783 [GRCh38] Chr18:59742016 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2606A>G (p.Asp869Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003012141]	Chr18:62074792 [GRCh38] Chr18:59742025 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.466A>G (p.Thr156Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003016056]	Chr18:62154628 [GRCh38] Chr18:59821861 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.222-17T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002861330]	Chr18:62157825 [GRCh38] Chr18:59825058 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2672+13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002858388]	Chr18:62072660 [GRCh38] Chr18:59739893 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2684A>G (p.Tyr895Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002616676]	Chr18:62045968 [GRCh38] Chr18:59713201 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.674+11del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002880429]	Chr18:62148203 [GRCh38] Chr18:59815436 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1252-18T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002905023]	Chr18:62113334 [GRCh38] Chr18:59780567 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2576+3A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002866003]	Chr18:62082670 [GRCh38] Chr18:59749903 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.670T>G (p.Ser224Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003075479]	Chr18:62148218 [GRCh38] Chr18:59815451 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.344-18C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003075490]	Chr18:62157245 [GRCh38] Chr18:59824478 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2764C>T (p.Leu922=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003013377]	Chr18:62045888 [GRCh38] Chr18:59713121 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2126G>T (p.Arg709Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002842756]	Chr18:62095902 [GRCh38] Chr18:59763135 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.854C>T (p.Thr285Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002819977]\|PIGN-related disorder [RCV003418615]	Chr18:62145977 [GRCh38] Chr18:59813210 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1637G>A (p.Gly546Glu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002993615]	Chr18:62107023 [GRCh38] Chr18:59774256 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1301A>G (p.Tyr434Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002615069]	Chr18:62113267 [GRCh38] Chr18:59780500 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2371G>T (p.Val791Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002815870]	Chr18:62085264 [GRCh38] Chr18:59752497 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2251C>G (p.Leu751Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002730770]	Chr18:62090508 [GRCh38] Chr18:59757741 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.922+16T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002904316]	Chr18:62145893 [GRCh38] Chr18:59813126 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1968+19A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002993917]	Chr18:62102775 [GRCh38] Chr18:59770008 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2370+10G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002903639]	Chr18:62088746 [GRCh38] Chr18:59755979 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.563A>C (p.His188Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002726392]	Chr18:62148325 [GRCh38] Chr18:59815558 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1117-18T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002863218]	Chr18:62138316 [GRCh38] Chr18:59805549 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1909T>A (p.Ser637Thr)	single nucleotide variant	Inborn genetic diseases [RCV002883524]	Chr18:62102853 [GRCh38] Chr18:59770086 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.768A>G (p.Thr256=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002996648]	Chr18:62147008 [GRCh38] Chr18:59814241 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.911C>T (p.Ala304Val)	single nucleotide variant	Inborn genetic diseases [RCV002793656]	Chr18:62145920 [GRCh38] Chr18:59813153 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1421G>A (p.Ser474Asn)	single nucleotide variant	Inborn genetic diseases [RCV002732235]	Chr18:62113147 [GRCh38] Chr18:59780380 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.679T>C (p.Tyr227His)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002996602]	Chr18:62147097 [GRCh38] Chr18:59814330 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.24del (p.Leu9fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003012324]	Chr18:62161330 [GRCh38] Chr18:59828563 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2427-17T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002761073]	Chr18:62084623 [GRCh38] Chr18:59751856 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1876C>T (p.Leu626=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003080520]	Chr18:62102886 [GRCh38] Chr18:59770119 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1782T>A (p.Ser594Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002623103]	Chr18:62105620 [GRCh38] Chr18:59772853 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1469C>T (p.Ala490Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002953582]	Chr18:62109939 [GRCh38] Chr18:59777172 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2535T>C (p.Ala845=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002786009]	Chr18:62082714 [GRCh38] Chr18:59749947 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2482G>T (p.Gly828Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002871184]	Chr18:62084551 [GRCh38] Chr18:59751784 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2776C>A (p.Pro926Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002886447]	Chr18:62045876 [GRCh38] Chr18:59713109 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2180+6A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003000095]	Chr18:62095842 [GRCh38] Chr18:59763075 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.228C>A (p.Ile76=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002796628]	Chr18:62157802 [GRCh38] Chr18:59825035 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.749G>A (p.Gly250Glu)	single nucleotide variant	Inborn genetic diseases [RCV004064768]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002781270]	Chr18:62147027 [GRCh38] Chr18:59814260 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1928A>G (p.Asp643Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002949087]	Chr18:62102834 [GRCh38] Chr18:59770067 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.343+2T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003078756]	Chr18:62157685 [GRCh38] Chr18:59824918 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1768-7A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003054873]	Chr18:62105641 [GRCh38] Chr18:59772874 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.806-15A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002781154]	Chr18:62146040 [GRCh38] Chr18:59813273 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.806-14T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002848112]	Chr18:62146039 [GRCh38] Chr18:59813272 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-3C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003037583]	Chr18:62082749 [GRCh38] Chr18:59749982 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2619+20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003079596]	Chr18:62074759 [GRCh38] Chr18:59741992 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2389G>A (p.Ala797Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002795589]	Chr18:62085246 [GRCh38] Chr18:59752479 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.369T>C (p.Phe123=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003018881]	Chr18:62157202 [GRCh38] Chr18:59824435 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2586C>G (p.Leu862=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002847443]	Chr18:62074812 [GRCh38] Chr18:59742045 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.482C>T (p.Ala161Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002796627]	Chr18:62154612 [GRCh38] Chr18:59821845 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1472T>C (p.Ile491Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002760736]	Chr18:62109936 [GRCh38] Chr18:59777169 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.805+16A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002952588]	Chr18:62146955 [GRCh38] Chr18:59814188 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.171T>C (p.Asp57=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002948388]	Chr18:62161183 [GRCh38] Chr18:59828416 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1508C>A (p.Ala503Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002957702]	Chr18:62109900 [GRCh38] Chr18:59777133 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2371-6C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002875537]	Chr18:62085270 [GRCh38] Chr18:59752503 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1683T>A (p.Ser561Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003023397]	Chr18:62106873 [GRCh38] Chr18:59774106 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.666A>G (p.Pro222=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002791525]	Chr18:62148222 [GRCh38] Chr18:59815455 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1252-8C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003006218]	Chr18:62113324 [GRCh38] Chr18:59780557 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1965A>C (p.Leu655Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003043707]	Chr18:62102797 [GRCh38] Chr18:59770030 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1986C>T (p.Leu662=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002667062]	Chr18:62101166 [GRCh38] Chr18:59768399 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2078-19C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003026214]	Chr18:62095969 [GRCh38] Chr18:59763202 [GRCh37] Chr18:18q21.33	likely benign\|uncertain significance
NM_176787.5(PIGN):c.531G>A (p.Trp177Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002918556]	Chr18:62154563 [GRCh38] Chr18:59821796 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.817dup (p.Ala273fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002644479]	Chr18:62146013..62146014 [GRCh38] Chr18:59813246..59813247 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1233C>T (p.His411=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002786295]	Chr18:62114579 [GRCh38] Chr18:59781812 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-13C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002645602]	Chr18:62090591 [GRCh38] Chr18:59757824 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-4A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002957212]	Chr18:62082750 [GRCh38] Chr18:59749983 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1744A>G (p.Thr582Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003056669]	Chr18:62106812 [GRCh38] Chr18:59774045 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2093T>G (p.Val698Gly)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002624408]	Chr18:62095935 [GRCh38] Chr18:59763168 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2502+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002851275]	Chr18:62084530 [GRCh38] Chr18:59751763 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2655G>C (p.Trp885Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003005468]	Chr18:62072690 [GRCh38] Chr18:59739923 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.529T>C (p.Trp177Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003082255]	Chr18:62154565 [GRCh38] Chr18:59821798 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1251+18A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002624676]	Chr18:62114543 [GRCh38] Chr18:59781776 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.853A>C (p.Thr285Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002829490]\|not provided [RCV003154075]	Chr18:62145978 [GRCh38] Chr18:59813211 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2427-16T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002890593]	Chr18:62084622 [GRCh38] Chr18:59751855 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1262G>A (p.Cys421Tyr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002828964]	Chr18:62113306 [GRCh38] Chr18:59780539 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.222G>A (p.Arg74=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002875708]	Chr18:62157808 [GRCh38] Chr18:59825041 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2666G>T (p.Gly889Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002791325]	Chr18:62072679 [GRCh38] Chr18:59739912 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.671C>T (p.Ser224Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002575782]	Chr18:62148217 [GRCh38] Chr18:59815450 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2426+20G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003083087]	Chr18:62085189 [GRCh38] Chr18:59752422 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.365A>C (p.Glu122Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003025243]	Chr18:62157206 [GRCh38] Chr18:59824439 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2770G>A (p.Gly924Ser)	single nucleotide variant	Inborn genetic diseases [RCV002804511]	Chr18:62045882 [GRCh38] Chr18:59713115 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1166C>T (p.Pro389Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002872801]	Chr18:62138249 [GRCh38] Chr18:59805482 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1768-18_1768-17del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003040502]	Chr18:62105651..62105652 [GRCh38] Chr18:59772884..59772885 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2766A>G (p.Leu922=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003043013]	Chr18:62045886 [GRCh38] Chr18:59713119 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2502+5G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003007682]	Chr18:62084526 [GRCh38] Chr18:59751759 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.912A>C (p.Ala304=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003085452]	Chr18:62145919 [GRCh38] Chr18:59813152 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2259A>G (p.Gln753=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003023987]	Chr18:62090500 [GRCh38] Chr18:59757733 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-14T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003042431]	Chr18:62084620 [GRCh38] Chr18:59751853 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2460T>C (p.Thr820=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003031846]	Chr18:62084573 [GRCh38] Chr18:59751806 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1767+18G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002676664]	Chr18:62106771 [GRCh38] Chr18:59774004 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.910G>A (p.Ala304Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002581568]	Chr18:62145921 [GRCh38] Chr18:59813154 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1760G>A (p.Arg587Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003090166]	Chr18:62106796 [GRCh38] Chr18:59774029 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.786C>T (p.Asp262=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002791651]	Chr18:62146990 [GRCh38] Chr18:59814223 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2118C>T (p.Leu706=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002938309]	Chr18:62095910 [GRCh38] Chr18:59763143 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1756A>G (p.Thr586Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002720470]	Chr18:62106800 [GRCh38] Chr18:59774033 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1862T>A (p.Met621Lys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002649641]\|not provided [RCV003229094]	Chr18:62102900 [GRCh38] Chr18:59770133 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2673-20A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003010264]	Chr18:62045999 [GRCh38] Chr18:59713232 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.285G>A (p.Arg95=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002877022]	Chr18:62157745 [GRCh38] Chr18:59824978 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1675-9C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002806517]	Chr18:62106890 [GRCh38] Chr18:59774123 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2502+1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002857819]	Chr18:62084530 [GRCh38] Chr18:59751763 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2305T>A (p.Tyr769Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003044818]	Chr18:62088821 [GRCh38] Chr18:59756054 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2417C>T (p.Ser806Phe)	single nucleotide variant	Inborn genetic diseases [RCV002935824]	Chr18:62085218 [GRCh38] Chr18:59752451 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2551T>C (p.Leu851=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002806328]	Chr18:62082698 [GRCh38] Chr18:59749931 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.891A>C (p.Ser297=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003008975]	Chr18:62145940 [GRCh38] Chr18:59813173 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.556T>C (p.Phe186Leu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003086527]	Chr18:62148332 [GRCh38] Chr18:59815565 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2576+17T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002895677]	Chr18:62082656 [GRCh38] Chr18:59749889 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.696A>G (p.Lys232=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003044228]	Chr18:62147080 [GRCh38] Chr18:59814313 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2437G>A (p.Ala813Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002716132]	Chr18:62084596 [GRCh38] Chr18:59751829 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1312T>A (p.Tyr438Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002834491]	Chr18:62113256 [GRCh38] Chr18:59780489 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1767+1del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003011128]	Chr18:62106788 [GRCh38] Chr18:59774021 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.221+9G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002598989]	Chr18:62161124 [GRCh38] Chr18:59828357 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.550-10T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002675795]	Chr18:62148348 [GRCh38] Chr18:59815581 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1589A>G (p.Gln530Arg)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002933855]	Chr18:62107071 [GRCh38] Chr18:59774304 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.844C>G (p.Pro282Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003009953]	Chr18:62145987 [GRCh38] Chr18:59813220 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1051A>T (p.Asn351Tyr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003043949]	Chr18:62139048 [GRCh38] Chr18:59806281 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1767+16T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002857260]	Chr18:62106773 [GRCh38] Chr18:59774006 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2502+13A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002598396]	Chr18:62084518 [GRCh38] Chr18:59751751 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2736C>T (p.Ala912=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003030379]	Chr18:62045916 [GRCh38] Chr18:59713149 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.344-19G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003065383]	Chr18:62157246 [GRCh38] Chr18:59824479 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1563G>A (p.Ala521=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003088195]	Chr18:62109845 [GRCh38] Chr18:59777078 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1494T>C (p.Phe498=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002834351]	Chr18:62109914 [GRCh38] Chr18:59777147 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+13A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002628889]	Chr18:62143293 [GRCh38] Chr18:59810526 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.134G>C (p.Arg45Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002807139]	Chr18:62161220 [GRCh38] Chr18:59828453 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1290A>G (p.Lys430=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003092633]	Chr18:62113278 [GRCh38] Chr18:59780511 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2128T>C (p.Leu710=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002635080]	Chr18:62095900 [GRCh38] Chr18:59763133 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1878G>T (p.Leu626=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003050149]	Chr18:62102884 [GRCh38] Chr18:59770117 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1384A>G (p.Ile462Val)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002725615]	Chr18:62113184 [GRCh38] Chr18:59780417 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2470C>G (p.Pro824Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002653452]	Chr18:62084563 [GRCh38] Chr18:59751796 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1767+14T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003071348]	Chr18:62106775 [GRCh38] Chr18:59774008 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1778T>A (p.Leu593Gln)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003072492]	Chr18:62105624 [GRCh38] Chr18:59772857 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1903G>A (p.Val635Ile)	single nucleotide variant	Inborn genetic diseases [RCV004071798]\|Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003072534]	Chr18:62102859 [GRCh38] Chr18:59770092 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2620-18C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002634148]	Chr18:62072743 [GRCh38] Chr18:59739976 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1196T>G (p.Phe399Cys)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002583616]	Chr18:62114616 [GRCh38] Chr18:59781849 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2284-15C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003068606]	Chr18:62088857 [GRCh38] Chr18:59756090 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1331G>A (p.Gly444Asp)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003070548]	Chr18:62113237 [GRCh38] Chr18:59780470 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.842C>G (p.Thr281Ser)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002814942]	Chr18:62145989 [GRCh38] Chr18:59813222 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.700G>C (p.Val234Leu)	single nucleotide variant	Inborn genetic diseases [RCV002944459]	Chr18:62147076 [GRCh38] Chr18:59814309 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1969-7T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002676741]	Chr18:62101190 [GRCh38] Chr18:59768423 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.532G>A (p.Val178Ile)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003131960]	Chr18:62154562 [GRCh38] Chr18:59821795 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003131961]	Chr18:62147022 [GRCh38] Chr18:59814255 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.625C>T (p.His209Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003195968]	Chr18:62148263 [GRCh38] Chr18:59815496 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1049A>G (p.Asn350Ser)	single nucleotide variant	not provided [RCV003218974]	Chr18:62139050 [GRCh38] Chr18:59806283 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2018G>A (p.Ser673Asn)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003134910]	Chr18:62101134 [GRCh38] Chr18:59768367 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2737C>T (p.Gln913Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003134911]	Chr18:62045915 [GRCh38] Chr18:59713148 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2619+5G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003333475]	Chr18:62074774 [GRCh38] Chr18:59742007 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2577-15T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003875713]	Chr18:62074836 [GRCh38] Chr18:59742069 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.424C>T (p.Leu142=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642363]	Chr18:62157147 [GRCh38] Chr18:59824380 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1675-5A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003880952]	Chr18:62106886 [GRCh38] Chr18:59774119 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2699C>G (p.Ser900Cys)	single nucleotide variant	Inborn genetic diseases [RCV004961313]\|not provided [RCV003443253]	Chr18:62045953 [GRCh38] Chr18:59713186 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1675-4C>G	single nucleotide variant	not provided [RCV003441216]	Chr18:62106885 [GRCh38] Chr18:59774118 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2736C>G (p.Ala912=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528473]\|not provided [RCV003413462]	Chr18:62045916 [GRCh38] Chr18:59713149 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2004_2005del (p.Tyr668_Ser669delinsTer)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529246]	Chr18:62101147..62101148 [GRCh38] Chr18:59768380..59768381 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.408G>A (p.Trp136Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528951]	Chr18:62157163 [GRCh38] Chr18:59824396 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2559T>G (p.Thr853=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527706]	Chr18:62082690 [GRCh38] Chr18:59749923 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.550-15A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529221]	Chr18:62148353 [GRCh38] Chr18:59815586 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1434+10G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529365]	Chr18:62113124 [GRCh38] Chr18:59780357 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527813]	Chr18:62084607 [GRCh38] Chr18:59751840 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.519A>G (p.Lys173=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527831]	Chr18:62154575 [GRCh38] Chr18:59821808 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-12C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529451]	Chr18:62147113 [GRCh38] Chr18:59814346 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1563G>C (p.Ala521=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527642]	Chr18:62109845 [GRCh38] Chr18:59777078 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1921A>T (p.Arg641Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003827032]	Chr18:62102841 [GRCh38] Chr18:59770074 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2646_2647insA (p.Gly883fs)	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529478]	Chr18:62072698..62072699 [GRCh38] Chr18:59739931..59739932 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.273A>T (p.Pro91=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003879404]	Chr18:62157757 [GRCh38] Chr18:59824990 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2371-16C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527774]	Chr18:62085280 [GRCh38] Chr18:59752513 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-17C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527781]	Chr18:62114656 [GRCh38] Chr18:59781889 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2370+16A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527824]	Chr18:62088740 [GRCh38] Chr18:59755973 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2620-19C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529319]	Chr18:62072744 [GRCh38] Chr18:59739977 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-13T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529629]	Chr18:62147114 [GRCh38] Chr18:59814347 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.923-1G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003880336]	Chr18:62143347 [GRCh38] Chr18:59810580 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.549+16T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527888]	Chr18:62154529 [GRCh38] Chr18:59821762 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2371-2A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529748]	Chr18:62085266 [GRCh38] Chr18:59752499 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1285T>C (p.Leu429=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529540]	Chr18:62113283 [GRCh38] Chr18:59780516 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+11C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528535]	Chr18:62143295 [GRCh38] Chr18:59810528 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1575-11A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003831857]	Chr18:62107096 [GRCh38] Chr18:59774329 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1768-8G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529594]	Chr18:62105642 [GRCh38] Chr18:59772875 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.806-16T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529685]	Chr18:62146041 [GRCh38] Chr18:59813274 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.442+9C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528870]	Chr18:62157120 [GRCh38] Chr18:59824353 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1731T>G (p.Ala577=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528961]	Chr18:62106825 [GRCh38] Chr18:59774058 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.195del (p.Asn65fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528819]	Chr18:62161159 [GRCh38] Chr18:59828392 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1581A>G (p.Gln527=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529079]	Chr18:62107079 [GRCh38] Chr18:59774312 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1908A>G (p.Thr636=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528883]	Chr18:62102854 [GRCh38] Chr18:59770087 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.179dup (p.Tyr60Ter)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003877490]	Chr18:62161174..62161175 [GRCh38] Chr18:59828407..59828408 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2576+18A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529248]	Chr18:62082655 [GRCh38] Chr18:59749888 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1860-18A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529650]	Chr18:62102920 [GRCh38] Chr18:59770153 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2601A>C (p.Ile867=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528497]	Chr18:62074797 [GRCh38] Chr18:59742030 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2691T>A (p.Ile897=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528517]	Chr18:62045961 [GRCh38] Chr18:59713194 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.674+15T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529001]	Chr18:62148199 [GRCh38] Chr18:59815432 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1574+13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003829263]	Chr18:62109821 [GRCh38] Chr18:59777054 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2586C>A (p.Leu862=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528571]	Chr18:62074812 [GRCh38] Chr18:59742045 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2370+13G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527660]	Chr18:62088743 [GRCh38] Chr18:59755976 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1860-8C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527663]	Chr18:62102910 [GRCh38] Chr18:59770143 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.442+11C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528594]	Chr18:62157118 [GRCh38] Chr18:59824351 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2180+20T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529336]	Chr18:62095828 [GRCh38] Chr18:59763061 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.222-12A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527744]	Chr18:62157820 [GRCh38] Chr18:59825053 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1092A>G (p.Ala364=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527753]	Chr18:62139007 [GRCh38] Chr18:59806240 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2391A>G (p.Ala797=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529368]	Chr18:62085244 [GRCh38] Chr18:59752477 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.810C>G (p.Ser270=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529395]	Chr18:62146021 [GRCh38] Chr18:59813254 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1680C>T (p.Leu560=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527948]	Chr18:62106876 [GRCh38] Chr18:59774109 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.923-18T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527805]	Chr18:62143364 [GRCh38] Chr18:59810597 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.597A>C (p.Ile199=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527877]	Chr18:62148291 [GRCh38] Chr18:59815524 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2028G>A (p.Arg676=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527883]	Chr18:62101124 [GRCh38] Chr18:59768357 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1950A>T (p.Leu650=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529042]	Chr18:62102812 [GRCh38] Chr18:59770045 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-4T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003827655]	Chr18:62090582 [GRCh38] Chr18:59757815 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1117-6del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527946]	Chr18:62138304 [GRCh38] Chr18:59805537 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.114A>C (p.Pro38=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528826]	Chr18:62161240 [GRCh38] Chr18:59828473 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2576G>C (p.Ser859Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529494]\|not provided [RCV004719355]	Chr18:62082673 [GRCh38] Chr18:59749906 [GRCh37] Chr18:18q21.33	likely pathogenic\|uncertain significance
NM_176787.5(PIGN):c.2463_2464del (p.Phe822fs)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528862]	Chr18:62084569..62084570 [GRCh38] Chr18:59751802..59751803 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2427-1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528886]	Chr18:62084607 [GRCh38] Chr18:59751840 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2577-13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528901]	Chr18:62074834 [GRCh38] Chr18:59742067 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-6A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529580]	Chr18:62114645 [GRCh38] Chr18:59781878 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2329C>T (p.Arg777Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528940]\|not provided [RCV004723357]	Chr18:62088797 [GRCh38] Chr18:59756030 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1173-10T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529157]	Chr18:62114649 [GRCh38] Chr18:59781882 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1860-19T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529158]	Chr18:62102921 [GRCh38] Chr18:59770154 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.443-6T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003830783]	Chr18:62154657 [GRCh38] Chr18:59821890 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2283+8G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528957]	Chr18:62090468 [GRCh38] Chr18:59757701 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.15T>C (p.Phe5=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528960]	Chr18:62161339 [GRCh38] Chr18:59828572 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.168A>G (p.Ala56=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529619]	Chr18:62161186 [GRCh38] Chr18:59828419 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1968+9C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527640]	Chr18:62102785 [GRCh38] Chr18:59770018 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1117-10T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527643]	Chr18:62138308 [GRCh38] Chr18:59805541 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1859+8T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528864]	Chr18:62105535 [GRCh38] Chr18:59772768 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.435T>C (p.Phe145=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003830512]	Chr18:62157136 [GRCh38] Chr18:59824369 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2025C>G (p.Leu675=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529710]	Chr18:62101127 [GRCh38] Chr18:59768360 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2283+18T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529727]	Chr18:62090458 [GRCh38] Chr18:59757691 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2426+2T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528888]	Chr18:62085207 [GRCh38] Chr18:59752440 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1968+8A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528907]	Chr18:62102786 [GRCh38] Chr18:59770019 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1859+20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529314]	Chr18:62105523 [GRCh38] Chr18:59772756 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1116+16A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527694]	Chr18:62138967 [GRCh38] Chr18:59806200 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-19A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527697]	Chr18:62082765 [GRCh38] Chr18:59749998 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2077+20A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527711]	Chr18:62101055 [GRCh38] Chr18:59768288 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-20del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529747]	Chr18:62147121 [GRCh38] Chr18:59814354 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1635T>G (p.Val545=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527755]	Chr18:62107025 [GRCh38] Chr18:59774258 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1246del (p.Glu416fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528946]	Chr18:62114566 [GRCh38] Chr18:59781799 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1600del (p.Val534fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529775]	Chr18:62107060 [GRCh38] Chr18:59774293 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.675-9T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529776]	Chr18:62147110 [GRCh38] Chr18:59814343 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1017C>T (p.Asn339=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528487]	Chr18:62140426 [GRCh38] Chr18:59807659 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2619+14G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529396]	Chr18:62074765 [GRCh38] Chr18:59741998 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.443-20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529779]	Chr18:62154671 [GRCh38] Chr18:59821904 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.978A>G (p.Pro326=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528510]	Chr18:62140465 [GRCh38] Chr18:59807698 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.443-10T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528513]	Chr18:62154661 [GRCh38] Chr18:59821894 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.903T>C (p.Phe301=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528516]	Chr18:62145928 [GRCh38] Chr18:59813161 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1617T>A (p.Tyr539Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529012]	Chr18:62107043 [GRCh38] Chr18:59774276 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2097A>C (p.Pro699=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529022]	Chr18:62095931 [GRCh38] Chr18:59763164 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.530G>A (p.Trp177Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529796]	Chr18:62154564 [GRCh38] Chr18:59821797 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.963+7A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527806]	Chr18:62143299 [GRCh38] Chr18:59810532 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2763A>G (p.Arg921=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527812]	Chr18:62045889 [GRCh38] Chr18:59713122 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1674+9C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529031]	Chr18:62106977 [GRCh38] Chr18:59774210 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-12C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529037]	Chr18:62090590 [GRCh38] Chr18:59757823 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1218A>G (p.Arg406=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529456]	Chr18:62114594 [GRCh38] Chr18:59781827 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1924_1928del (p.Arg641_Lys642insTer)	microsatellite	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528572]	Chr18:62102834..62102838 [GRCh38] Chr18:59770067..59770071 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2199A>G (p.Pro733=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529068]	Chr18:62090560 [GRCh38] Chr18:59757793 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1599T>G (p.Val533=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528614]	Chr18:62107061 [GRCh38] Chr18:59774294 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-17C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527896]	Chr18:62090595 [GRCh38] Chr18:59757828 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1132A>T (p.Lys378Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527900]	Chr18:62138283 [GRCh38] Chr18:59805516 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.855T>A (p.Thr285=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529097]	Chr18:62145976 [GRCh38] Chr18:59813209 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2004T>C (p.Tyr668=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529781]	Chr18:62101148 [GRCh38] Chr18:59768381 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1614del (p.Tyr539fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528539]	Chr18:62107046 [GRCh38] Chr18:59774279 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1443C>T (p.Ser481=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529130]	Chr18:62109965 [GRCh38] Chr18:59777198 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.975A>G (p.Ala325=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527967]	Chr18:62140468 [GRCh38] Chr18:59807701 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1509C>T (p.Ala503=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003527984]	Chr18:62109899 [GRCh38] Chr18:59777132 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2284-16T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529165]	Chr18:62088858 [GRCh38] Chr18:59756091 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1574+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529495]	Chr18:62109833 [GRCh38] Chr18:59777066 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1024-10T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529207]	Chr18:62139085 [GRCh38] Chr18:59806318 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.951A>T (p.Leu317=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529627]	Chr18:62143318 [GRCh38] Chr18:59810551 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2575del (p.Ser859fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529640]	Chr18:62082674 [GRCh38] Chr18:59749907 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1767+19A>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529643]	Chr18:62106770 [GRCh38] Chr18:59774003 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.462T>C (p.Val154=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529646]	Chr18:62154632 [GRCh38] Chr18:59821865 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2619+17T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003528821]	Chr18:62074762 [GRCh38] Chr18:59741995 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1066A>T (p.Lys356Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003529669]	Chr18:62139033 [GRCh38] Chr18:59806266 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1116+11A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003879441]	Chr18:62138972 [GRCh38] Chr18:59806205 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-18T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003824434]	Chr18:62101201 [GRCh38] Chr18:59768434 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.718G>T (p.Glu240Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003824605]	Chr18:62147058 [GRCh38] Chr18:59814291 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.912A>G (p.Ala304=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003877997]	Chr18:62145919 [GRCh38] Chr18:59813152 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-9T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003878861]	Chr18:62114648 [GRCh38] Chr18:59781881 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2565A>G (p.Leu855=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003878842]	Chr18:62082684 [GRCh38] Chr18:59749917 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1377T>G (p.Ser459=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003851739]	Chr18:62113191 [GRCh38] Chr18:59780424 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1556G>A (p.Trp519Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003836496]	Chr18:62109852 [GRCh38] Chr18:59777085 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2292T>C (p.Ser764=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003833005]	Chr18:62088834 [GRCh38] Chr18:59756067 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1574+18C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003831927]	Chr18:62109816 [GRCh38] Chr18:59777049 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2706C>T (p.Thr902=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003816099]	Chr18:62045946 [GRCh38] Chr18:59713179 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.221+16G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003816834]	Chr18:62161117 [GRCh38] Chr18:59828350 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1172+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003838006]	Chr18:62138242 [GRCh38] Chr18:59805475 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2498G>A (p.Trp833Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003811748]	Chr18:62084535 [GRCh38] Chr18:59751768 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.550-5T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003832848]	Chr18:62148343 [GRCh38] Chr18:59815576 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.922+19T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003832844]	Chr18:62145890 [GRCh38] Chr18:59813123 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1109A>C (p.Gln370Pro)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003838007]	Chr18:62138990 [GRCh38] Chr18:59806223 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2298G>A (p.Gln766=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003836927]	Chr18:62088828 [GRCh38] Chr18:59756061 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.895C>T (p.Gln299Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003838008]	Chr18:62145936 [GRCh38] Chr18:59813169 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.861A>G (p.Gly287=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641941]	Chr18:62145970 [GRCh38] Chr18:59813203 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.831A>G (p.Ser277=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640697]	Chr18:62146000 [GRCh38] Chr18:59813233 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1671A>G (p.Val557=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641982]	Chr18:62106989 [GRCh38] Chr18:59774222 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2237_2238del (p.Ile746fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642045]	Chr18:62090521..62090522 [GRCh38] Chr18:59757754..59757755 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.442+12T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641123]	Chr18:62157117 [GRCh38] Chr18:59824350 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2619+15G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642183]	Chr18:62074764 [GRCh38] Chr18:59741997 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2284-9A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003822610]	Chr18:62088851 [GRCh38] Chr18:59756084 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2078-18del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003862112]	Chr18:62095968 [GRCh38] Chr18:59763201 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.738C>T (p.Asn246=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641313]	Chr18:62147038 [GRCh38] Chr18:59814271 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2370+10G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641319]	Chr18:62088746 [GRCh38] Chr18:59755979 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2742G>T (p.Leu914=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641334]	Chr18:62045910 [GRCh38] Chr18:59713143 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640416]	Chr18:62101196 [GRCh38] Chr18:59768429 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2253A>G (p.Leu751=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641196]	Chr18:62090506 [GRCh38] Chr18:59757739 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1732del (p.Trp578fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640500]	Chr18:62106824 [GRCh38] Chr18:59774057 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1768-12T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641534]	Chr18:62105646 [GRCh38] Chr18:59772879 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.90T>C (p.His30=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641620]	Chr18:62161264 [GRCh38] Chr18:59828497 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2502+9T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640614]	Chr18:62084522 [GRCh38] Chr18:59751755 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2004T>G (p.Tyr668Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641349]	Chr18:62101148 [GRCh38] Chr18:59768381 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.443-7T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641350]	Chr18:62154658 [GRCh38] Chr18:59821891 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1117-15A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641651]	Chr18:62138313 [GRCh38] Chr18:59805546 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.344-19G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640706]	Chr18:62157246 [GRCh38] Chr18:59824479 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.465T>A (p.Tyr155Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003858700]	Chr18:62154629 [GRCh38] Chr18:59821862 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.507A>G (p.Gln169=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641494]	Chr18:62154587 [GRCh38] Chr18:59821820 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.723C>A (p.Ile241=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641505]	Chr18:62147053 [GRCh38] Chr18:59814286 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2256A>G (p.Gln752=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640736]	Chr18:62090503 [GRCh38] Chr18:59757736 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1575-23_1575-20del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642003]	Chr18:62107105..62107108 [GRCh38] Chr18:59774338..59774341 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1257C>T (p.Ser419=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642051]	Chr18:62113311 [GRCh38] Chr18:59780544 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.72T>C (p.Phe24=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641731]	Chr18:62161282 [GRCh38] Chr18:59828515 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.444T>C (p.Gly148=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641838]	Chr18:62154650 [GRCh38] Chr18:59821883 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2077+9C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642099]	Chr18:62101066 [GRCh38] Chr18:59768299 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1116+11_1116+12del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641853]	Chr18:62138971..62138972 [GRCh38] Chr18:59806204..59806205 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1674+11T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641867]	Chr18:62106975 [GRCh38] Chr18:59774208 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-4T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642209]	Chr18:62101187 [GRCh38] Chr18:59768420 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1251+19T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640473]	Chr18:62114542 [GRCh38] Chr18:59781775 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2620-14T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640530]	Chr18:62072739 [GRCh38] Chr18:59739972 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+17T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641329]	Chr18:62143289 [GRCh38] Chr18:59810522 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.11del (p.Phe4fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641340]	Chr18:62161343 [GRCh38] Chr18:59828576 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2511C>T (p.Ile837=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642117]	Chr18:62082738 [GRCh38] Chr18:59749971 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.629T>G (p.Leu210Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640543]	Chr18:62148259 [GRCh38] Chr18:59815492 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1845A>G (p.Pro615=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641423]	Chr18:62105557 [GRCh38] Chr18:59772790 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-11C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641461]	Chr18:62090589 [GRCh38] Chr18:59757822 [GRCh37] Chr18:18q21.33	likely benign
NC_000018.10:g.62085265del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642316]	Chr18:62085264 [GRCh38] Chr18:59752497 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1413A>G (p.Lys471=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641644]	Chr18:62113155 [GRCh38] Chr18:59780388 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.114A>G (p.Pro38=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641680]	Chr18:62161240 [GRCh38] Chr18:59828473 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-15C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640452]	Chr18:62101198 [GRCh38] Chr18:59768431 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2284-18T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640785]	Chr18:62088860 [GRCh38] Chr18:59756093 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.922+2T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641728]	Chr18:62145907 [GRCh38] Chr18:59813140 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1252-19A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641769]	Chr18:62113335 [GRCh38] Chr18:59780568 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.637del (p.Gly212_Ile213insTer)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640523]	Chr18:62148251 [GRCh38] Chr18:59815484 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1311A>G (p.Thr437=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640605]	Chr18:62113257 [GRCh38] Chr18:59780490 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1251+11C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640607]	Chr18:62114550 [GRCh38] Chr18:59781783 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.805+15_805+18del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640613]	Chr18:62146953..62146956 [GRCh38] Chr18:59814186..59814189 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1574+9T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640399]	Chr18:62109825 [GRCh38] Chr18:59777058 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2426+13G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640408]	Chr18:62085196 [GRCh38] Chr18:59752429 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-7T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640460]	Chr18:62114646 [GRCh38] Chr18:59781879 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-11T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640541]	Chr18:62084617 [GRCh38] Chr18:59751850 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1023+19T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640574]	Chr18:62140401 [GRCh38] Chr18:59807634 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.222-4T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640597]	Chr18:62157812 [GRCh38] Chr18:59825045 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1473T>C (p.Ile491=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640664]	Chr18:62109935 [GRCh38] Chr18:59777168 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-11T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640701]	Chr18:62147112 [GRCh38] Chr18:59814345 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-8G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640760]	Chr18:62101191 [GRCh38] Chr18:59768424 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.222-1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003868896]	Chr18:62157809 [GRCh38] Chr18:59825042 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2655del (p.Trp885fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641230]	Chr18:62072690 [GRCh38] Chr18:59739923 [GRCh37] Chr18:18q21.33	pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	copy number loss	not specified [RCV003986103]	Chr18:48766173..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_176787.5(PIGN):c.246C>T (p.Ser82=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641411]	Chr18:62157784 [GRCh38] Chr18:59825017 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1435-15del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641570]	Chr18:62109988 [GRCh38] Chr18:59777221 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.221+17A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641633]	Chr18:62161116 [GRCh38] Chr18:59828349 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-20dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641749]	Chr18:62101202..62101203 [GRCh38] Chr18:59768435..59768436 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-2A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641755]	Chr18:62082748 [GRCh38] Chr18:59749981 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2020del (p.Leu674fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641832]	Chr18:62101132 [GRCh38] Chr18:59768365 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1794C>T (p.Phe598=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641870]	Chr18:62105608 [GRCh38] Chr18:59772841 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2576+14_2576+17del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642017]	Chr18:62082656..62082659 [GRCh38] Chr18:59749889..59749892 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642212]	Chr18:62114652 [GRCh38] Chr18:59781885 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1224T>C (p.Tyr408=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642007]	Chr18:62114588 [GRCh38] Chr18:59781821 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.917dup (p.Leu306fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003841590]	Chr18:62145913..62145914 [GRCh38] Chr18:59813146..59813147 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1116+9A>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640405]	Chr18:62138974 [GRCh38] Chr18:59806207 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2619+12C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642315]	Chr18:62074767 [GRCh38] Chr18:59742000 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	copy number gain	not specified [RCV003986100]	Chr18:58508272..70495604 [GRCh37] Chr18:18q21.32-22.3	likely pathogenic
NM_176787.5(PIGN):c.1518G>A (p.Trp506Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640472]	Chr18:62109890 [GRCh38] Chr18:59777123 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1117-16C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640563]	Chr18:62138314 [GRCh38] Chr18:59805547 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-17del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640608]	Chr18:62147118 [GRCh38] Chr18:59814351 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1609T>C (p.Leu537=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640673]\|PIGN-related disorder [RCV003948936]	Chr18:62107051 [GRCh38] Chr18:59774284 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.221+19A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640804]	Chr18:62161114 [GRCh38] Chr18:59828347 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	copy number loss	not specified [RCV003987273]	Chr18:55363398..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
NM_176787.5(PIGN):c.1252-9dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641195]	Chr18:62113324..62113325 [GRCh38] Chr18:59780557..59780558 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1656C>G (p.Thr552=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003868659]	Chr18:62107004 [GRCh38] Chr18:59774237 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-12G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641386]	Chr18:62082758 [GRCh38] Chr18:59749991 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2576+20G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641463]	Chr18:62082653 [GRCh38] Chr18:59749886 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2427-12A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003870617]	Chr18:62084618 [GRCh38] Chr18:59751851 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.237T>C (p.His79=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641532]	Chr18:62157793 [GRCh38] Chr18:59825026 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.604_608del (p.Glu202fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641577]	Chr18:62148280..62148284 [GRCh38] Chr18:59815513..59815517 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.42G>A (p.Val14=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641641]	Chr18:62161312 [GRCh38] Chr18:59828545 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1533T>A (p.Tyr511Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641695]	Chr18:62109875 [GRCh38] Chr18:59777108 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1642C>T (p.Leu548=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641740]	Chr18:62107018 [GRCh38] Chr18:59774251 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1650C>G (p.Ala550=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641906]	Chr18:62107010 [GRCh38] Chr18:59774243 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1969-15C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641636]	Chr18:62101198 [GRCh38] Chr18:59768431 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1176G>A (p.Leu392=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641722]	Chr18:62114636 [GRCh38] Chr18:59781869 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.9G>C (p.Leu3=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641745]	Chr18:62161345 [GRCh38] Chr18:59828578 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2129del (p.Leu710fs)	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641762]	Chr18:62095899 [GRCh38] Chr18:59763132 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2568G>T (p.Ser856=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641786]	Chr18:62082681 [GRCh38] Chr18:59749914 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.343+10A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641871]	Chr18:62157677 [GRCh38] Chr18:59824910 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.159C>T (p.Gly53=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641883]	Chr18:62161195 [GRCh38] Chr18:59828428 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1674+15A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641950]	Chr18:62106971 [GRCh38] Chr18:59774204 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1023+19T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003865115]	Chr18:62140401 [GRCh38] Chr18:59807634 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2672+16del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003841608]	Chr18:62072657 [GRCh38] Chr18:59739890 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1342G>T (p.Val448Phe)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003865844]	Chr18:62113226 [GRCh38] Chr18:59780459 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.489A>G (p.Arg163=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640373]	Chr18:62154605 [GRCh38] Chr18:59821838 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+16T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642290]	Chr18:62143290 [GRCh38] Chr18:59810523 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.674+2T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641768]	Chr18:62148212 [GRCh38] Chr18:59815445 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1859+9A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641771]	Chr18:62105534 [GRCh38] Chr18:59772767 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1434+14A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641805]	Chr18:62113120 [GRCh38] Chr18:59780353 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.805+14T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641855]	Chr18:62146957 [GRCh38] Chr18:59814190 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-9del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003818179]	Chr18:62114648 [GRCh38] Chr18:59781881 [GRCh37] Chr18:18q21.33	benign
NM_176787.5(PIGN):c.1638G>A (p.Gly546=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640409]	Chr18:62107022 [GRCh38] Chr18:59774255 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1314T>C (p.Tyr438=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640426]	Chr18:62113254 [GRCh38] Chr18:59780487 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2149T>C (p.Leu717=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640494]	Chr18:62095879 [GRCh38] Chr18:59763112 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1407T>C (p.Leu469=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003819505]	Chr18:62113161 [GRCh38] Chr18:59780394 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.153T>C (p.Ala51=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640501]	Chr18:62161201 [GRCh38] Chr18:59828434 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-11C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640549]	Chr18:62090589 [GRCh38] Chr18:59757822 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1026A>T (p.Gly342=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640661]	Chr18:62139073 [GRCh38] Chr18:59806306 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1151dup (p.Phe385fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642011]	Chr18:62138263..62138264 [GRCh38] Chr18:59805496..59805497 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.601_602insT (p.Glu201fs)	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642020]	Chr18:62148286..62148287 [GRCh38] Chr18:59815519..59815520 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.1311A>T (p.Thr437=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003858181]	Chr18:62113257 [GRCh38] Chr18:59780490 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.813T>C (p.His271=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003841851]	Chr18:62146018 [GRCh38] Chr18:59813251 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1716T>C (p.Leu572=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640620]	Chr18:62106840 [GRCh38] Chr18:59774073 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2620-19C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640629]	Chr18:62072744 [GRCh38] Chr18:59739977 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.477T>C (p.Tyr159=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640656]	Chr18:62154617 [GRCh38] Chr18:59821850 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-1G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640586]	Chr18:62147102 [GRCh38] Chr18:59814335 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2371-17T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640610]	Chr18:62085281 [GRCh38] Chr18:59752514 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1768-6T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640611]	Chr18:62105640 [GRCh38] Chr18:59772873 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1024-17G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642271]	Chr18:62139092 [GRCh38] Chr18:59806325 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1533T>C (p.Tyr511=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642297]	Chr18:62109875 [GRCh38] Chr18:59777108 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2514C>T (p.Pro838=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642307]	Chr18:62082735 [GRCh38] Chr18:59749968 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.399A>G (p.Thr133=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640803]	Chr18:62157172 [GRCh38] Chr18:59824405 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2181-20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640780]	Chr18:62090598 [GRCh38] Chr18:59757831 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2503-11T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003640865]	Chr18:62082757 [GRCh38] Chr18:59749990 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.923-13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642145]	Chr18:62143359 [GRCh38] Chr18:59810592 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1768-13T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642245]	Chr18:62105647 [GRCh38] Chr18:59772880 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.492G>A (p.Glu164=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003642354]	Chr18:62154602 [GRCh38] Chr18:59821835 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2399G>A (p.Gly800Glu)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641054]\|not provided [RCV004763423]	Chr18:62085236 [GRCh38] Chr18:59752469 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.2619+13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641106]	Chr18:62074766 [GRCh38] Chr18:59741999 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.923-19G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003861193]	Chr18:62143365 [GRCh38] Chr18:59810598 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1575-17C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641193]	Chr18:62107102 [GRCh38] Chr18:59774335 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2502+14T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641246]	Chr18:62084517 [GRCh38] Chr18:59751750 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.922+20G>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641199]	Chr18:62145889 [GRCh38] Chr18:59813122 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.550-18C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641176]	Chr18:62148356 [GRCh38] Chr18:59815589 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.351G>A (p.Lys117=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003843702]	Chr18:62157220 [GRCh38] Chr18:59824453 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2078-17G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641345]	Chr18:62095967 [GRCh38] Chr18:59763200 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1252-20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641394]	Chr18:62113336 [GRCh38] Chr18:59780569 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1173-4A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641247]	Chr18:62114643 [GRCh38] Chr18:59781876 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2721C>T (p.Phe907=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641295]	Chr18:62045931 [GRCh38] Chr18:59713164 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2730C>T (p.Gly910=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641286]	Chr18:62045922 [GRCh38] Chr18:59713155 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.951A>C (p.Leu317=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641317]	Chr18:62143318 [GRCh38] Chr18:59810551 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.941G>A (p.Trp314Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641359]	Chr18:62143328 [GRCh38] Chr18:59810561 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1362G>A (p.Trp454Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641387]	Chr18:62113206 [GRCh38] Chr18:59780439 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.675-20C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641481]	Chr18:62147121 [GRCh38] Chr18:59814354 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1646_1647insTTCTGTT (p.Leu549fs)	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641525]	Chr18:62107013..62107014 [GRCh38] Chr18:59774246..59774247 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.49G>A (p.Ala17Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641375]	Chr18:62161305 [GRCh38] Chr18:59828538 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2169T>G (p.Leu723=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641530]	Chr18:62095859 [GRCh38] Chr18:59763092 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.964-17A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641557]	Chr18:62140496 [GRCh38] Chr18:59807729 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1632T>C (p.Phe544=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641584]	Chr18:62107028 [GRCh38] Chr18:59774261 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1270C>T (p.Leu424=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641591]	Chr18:62113298 [GRCh38] Chr18:59780531 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.343+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641619]	Chr18:62157686 [GRCh38] Chr18:59824919 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2577-4_2577-3insA	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641562]	Chr18:62074824..62074825 [GRCh38] Chr18:59742057..59742058 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2577-4C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641563]	Chr18:62074825 [GRCh38] Chr18:59742058 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.806-4_808del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003641617]\|not provided [RCV004763739]	Chr18:62146023..62146029 [GRCh38] Chr18:59813256..59813262 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.399A>T (p.Thr133=)	single nucleotide variant	PIGN-related disorder [RCV003983582]	Chr18:62157172 [GRCh38] Chr18:59824405 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.981G>A (p.Leu327=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004555664]	Chr18:62140462 [GRCh38] Chr18:59807695 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.686A>G (p.His229Arg)	single nucleotide variant	Inborn genetic diseases [RCV004503733]	Chr18:62147090 [GRCh38] Chr18:59814323 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1796C>T (p.Ser599Phe)	single nucleotide variant	Inborn genetic diseases [RCV004503729]	Chr18:62105606 [GRCh38] Chr18:59772839 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1666G>A (p.Glu556Lys)	single nucleotide variant	Inborn genetic diseases [RCV004503728]	Chr18:62106994 [GRCh38] Chr18:59774227 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2099T>C (p.Leu700Pro)	single nucleotide variant	Inborn genetic diseases [RCV004503730]	Chr18:62095929 [GRCh38] Chr18:59763162 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2692G>T (p.Val898Phe)	single nucleotide variant	Inborn genetic diseases [RCV004503731]	Chr18:62045960 [GRCh38] Chr18:59713193 [GRCh37] Chr18:18q21.33	uncertain significance
NC_000018.9:g.(?_59713089)_(59828586_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579829]	Chr18:59713089..59828586 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59828346)_(59828586_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579830]	Chr18:59828346..59828586 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59755969)_(59781892_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579831]	Chr18:59755969..59781892 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59713089)_(59752517_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579832]	Chr18:59713089..59752517 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59739886)_(59749999_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579834]	Chr18:59739886..59749999 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59805456)_(59828586_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579835]	Chr18:59805456..59828586 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59739886)_(59828586_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579836]	Chr18:59739886..59828586 [GRCh37] Chr18:18q21.33	pathogenic
NC_000018.9:g.(?_59755969)_(59763203_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579837]	Chr18:59755969..59763203 [GRCh37] Chr18:18q21.33	likely pathogenic
NC_000018.9:g.(?_59772865)_(59775077_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579838]	Chr18:59772865..59775077 [GRCh37] Chr18:18q21.33	likely pathogenic
NC_000018.9:g.(?_59819871)_(59824934_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV004579839]	Chr18:59819871..59824934 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.573C>G (p.Asn191Lys)	single nucleotide variant	Inborn genetic diseases [RCV004657168]	Chr18:62148315 [GRCh38] Chr18:59815548 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.361G>C (p.Val121Leu)	single nucleotide variant	Inborn genetic diseases [RCV004657169]	Chr18:62157210 [GRCh38] Chr18:59824443 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.2044C>T (p.Leu682Phe)	single nucleotide variant	Inborn genetic diseases [RCV004648196]	Chr18:62101108 [GRCh38] Chr18:59768341 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1336A>C (p.Asn446His)	single nucleotide variant	Inborn genetic diseases [RCV004648197]	Chr18:62113232 [GRCh38] Chr18:59780465 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1775C>T (p.Ser592Leu)	single nucleotide variant	not provided [RCV004779004]	Chr18:62105627 [GRCh38] Chr18:59772860 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1097A>T (p.Gln366Leu)	single nucleotide variant	PIGN-related disorder [RCV004752641]	Chr18:62139002 [GRCh38] Chr18:59806235 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.450T>A (p.Ser150Arg)	single nucleotide variant	Inborn genetic diseases [RCV004959766]	Chr18:62154644 [GRCh38] Chr18:59821877 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.31-23(chr18:56102873-74360560)x3	copy number gain	not provided [RCV004819282]	Chr18:56102873..74360560 [GRCh37] Chr18:18q21.31-23	likely pathogenic
NM_176787.5(PIGN):c.2371-1G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005026294]	Chr18:62085265 [GRCh38] Chr18:59752498 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2125C>T (p.Arg709Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005026295]	Chr18:62095903 [GRCh38] Chr18:59763136 [GRCh37] Chr18:18q21.33	pathogenic\|likely pathogenic
NM_176787.5(PIGN):c.1519_1523delinsTTTG (p.Thr507fs)	indel	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005026297]	Chr18:62109885..62109889 [GRCh38] Chr18:59777118..59777122 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.806-2A>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005026298]	Chr18:62146027 [GRCh38] Chr18:59813260 [GRCh37] Chr18:18q21.33	likely pathogenic
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	copy number gain	not provided [RCV004819319]	Chr18:19309942..78014123 [GRCh37] Chr18:18q11.2-23	pathogenic
NM_176787.5(PIGN):c.522G>A (p.Leu174=)	single nucleotide variant	not provided [RCV005227325]	Chr18:62154572 [GRCh38] Chr18:59821805 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.442+16T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005067235]	Chr18:62157113 [GRCh38] Chr18:59824346 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2370+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005067580]	Chr18:62088755 [GRCh38] Chr18:59755988 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.2077+11A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005086989]	Chr18:62101064 [GRCh38] Chr18:59768297 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2180+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005172927]	Chr18:62095847 [GRCh38] Chr18:59763080 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.550-4G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005085643]	Chr18:62148342 [GRCh38] Chr18:59815575 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2077+14C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005171379]	Chr18:62101061 [GRCh38] Chr18:59768294 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2006G>C (p.Ser669Thr)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005195358]	Chr18:62101146 [GRCh38] Chr18:59768379 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1251+14C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005145826]	Chr18:62114547 [GRCh38] Chr18:59781780 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1859+13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005087129]	Chr18:62105530 [GRCh38] Chr18:59772763 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.549+19T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005085217]	Chr18:62154526 [GRCh38] Chr18:59821759 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1435-19G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005173331]	Chr18:62109992 [GRCh38] Chr18:59777225 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+2T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005173330]	Chr18:62143304 [GRCh38] Chr18:59810537 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1435-16T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005074883]	Chr18:62109989 [GRCh38] Chr18:59777222 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.221+14C>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005139438]	Chr18:62161119 [GRCh38] Chr18:59828352 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1172+17_1172+18insATTTA	insertion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005199314]	Chr18:62138225..62138226 [GRCh38] Chr18:59805458..59805459 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.333A>G (p.Ala111=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005120795]	Chr18:62157697 [GRCh38] Chr18:59824930 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1968+7T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005116446]	Chr18:62102787 [GRCh38] Chr18:59770020 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1116+1G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005122149]	Chr18:62138982 [GRCh38] Chr18:59806215 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.550-11G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005176791]	Chr18:62148349 [GRCh38] Chr18:59815582 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.963+18A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005119887]	Chr18:62143288 [GRCh38] Chr18:59810521 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.675-13T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005126458]	Chr18:62147114 [GRCh38] Chr18:59814347 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.858G>A (p.Trp286Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005081851]	Chr18:62145973 [GRCh38] Chr18:59813206 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.2576+12T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005116586]	Chr18:62082661 [GRCh38] Chr18:59749894 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2147C>A (p.Ser716Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005168212]	Chr18:62095881 [GRCh38] Chr18:59763114 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1434+12A>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005130120]	Chr18:62113122 [GRCh38] Chr18:59780355 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2102dup (p.Ser702fs)	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005131569]	Chr18:62095925..62095926 [GRCh38] Chr18:59763158..59763159 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.1860-20T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005150163]	Chr18:62102922 [GRCh38] Chr18:59770155 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2619+7C>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005120357]	Chr18:62074772 [GRCh38] Chr18:59742005 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.601G>T (p.Glu201Ter)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005131744]	Chr18:62148287 [GRCh38] Chr18:59815520 [GRCh37] Chr18:18q21.33	pathogenic
NM_176787.5(PIGN):c.675-2A>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005137715]	Chr18:62147103 [GRCh38] Chr18:59814336 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1117-19T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005164831]	Chr18:62138317 [GRCh38] Chr18:59805550 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2180+12T>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005130431]	Chr18:62095836 [GRCh38] Chr18:59763069 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1980A>G (p.Thr660=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005118033]	Chr18:62101172 [GRCh38] Chr18:59768405 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.993T>C (p.Leu331=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005135930]	Chr18:62140450 [GRCh38] Chr18:59807683 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.343+16A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005080485]	Chr18:62157671 [GRCh38] Chr18:59824904 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1252-15G>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005134983]	Chr18:62113331 [GRCh38] Chr18:59780564 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.444T>G (p.Gly148=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005199435]	Chr18:62154650 [GRCh38] Chr18:59821883 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1605A>G (p.Ser535=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005140416]	Chr18:62107055 [GRCh38] Chr18:59774288 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.922+8C>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005131538]	Chr18:62145901 [GRCh38] Chr18:59813134 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.288A>T (p.Pro96=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005131816]	Chr18:62157742 [GRCh38] Chr18:59824975 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.339C>G (p.Ala113=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005189490]	Chr18:62157691 [GRCh38] Chr18:59824924 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2370+11T>A	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005128491]	Chr18:62088745 [GRCh38] Chr18:59755978 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1959T>C (p.His653=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005181538]	Chr18:62102803 [GRCh38] Chr18:59770036 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.990C>G (p.Ser330=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005129777]	Chr18:62140453 [GRCh38] Chr18:59807686 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2121T>C (p.Phe707=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005108892]	Chr18:62095907 [GRCh38] Chr18:59763140 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1117-15A>T	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005126478]	Chr18:62138313 [GRCh38] Chr18:59805546 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1722C>T (p.Ala574=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005127780]	Chr18:62106834 [GRCh38] Chr18:59774067 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.2158A>G (p.Thr720Ala)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005181899]	Chr18:62095870 [GRCh38] Chr18:59763103 [GRCh37] Chr18:18q21.33	uncertain significance
NM_176787.5(PIGN):c.1435-9A>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005199005]	Chr18:62109982 [GRCh38] Chr18:59777215 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.806-1G>C	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005128017]	Chr18:62146026 [GRCh38] Chr18:59813259 [GRCh37] Chr18:18q21.33	likely pathogenic
NM_176787.5(PIGN):c.1029C>T (p.Ile343=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005130320]	Chr18:62139070 [GRCh38] Chr18:59806303 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.285G>T (p.Arg95=)	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005115340]	Chr18:62157745 [GRCh38] Chr18:59824978 [GRCh37] Chr18:18q21.33	likely benign
NM_176787.5(PIGN):c.1023+15T>G	single nucleotide variant	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV005113304]	Chr18:62140405 [GRCh38] Chr18:59807638 [GRCh37] Chr18:18q21.33	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	2656
Count of miRNA genes:	1000
Interacting mature miRNAs:	1209
Transcripts:	ENST00000357637, ENST00000400334, ENST00000585344, ENST00000585458, ENST00000585923, ENST00000585926, ENST00000586566, ENST00000587134, ENST00000587942, ENST00000588571, ENST00000588748, ENST00000589098, ENST00000589339, ENST00000589414, ENST00000589720, ENST00000590765, ENST00000590948, ENST00000591238, ENST00000592803, ENST00000593225
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597525525	GWAS1621599_H	amyloid-beta measurement, Alzheimer's disease biomarker measurement QTL GWAS1621599 (human)		0.0000004	amyloid-beta measurement, Alzheimer's disease biomarker measurement		18	62030363	62030364	Human
597490341	GWAS1586415_H	COVID-19 QTL GWAS1586415 (human)		0.000009	COVID-19		18	62022534	62022535	Human
406971388	GWAS620364_H	trait in response to efavirenz, virologic response measurement QTL GWAS620364 (human)		0.000009	trait in response to abacavir, virologic response measurement		18	62171686	62171687	Human
597609777	GWAS1666637_H	endocrine system disease QTL GWAS1666637 (human)		2e-11	endocrine system disease		18	62020678	62020679	Human
597367604	GWAS1463678_H	gut microbiome measurement QTL GWAS1463678 (human)		0.000002	gut microbiome measurement		18	62025808	62025809	Human

RH91991

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,712,681 - 59,712,838	UniSTS	GRCh37
Build 36	18	57,863,661 - 57,863,818	RGD	NCBI36
Celera	18	56,431,931 - 56,432,088	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,423,049 - 56,423,206	UniSTS
GeneMap99-GB4 RH Map	18	408.9	UniSTS

RH80923

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,711,874 - 59,712,063	UniSTS	GRCh37
Build 36	18	57,862,854 - 57,863,043	RGD	NCBI36
Celera	18	56,431,124 - 56,431,313	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,422,242 - 56,422,431	UniSTS
GeneMap99-GB4 RH Map	18	402.72	UniSTS

RH66563

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,711,694 - 59,711,859	UniSTS	GRCh37
Build 36	18	57,862,674 - 57,862,839	RGD	NCBI36
Celera	18	56,430,942 - 56,431,107	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,422,060 - 56,422,225	UniSTS
GeneMap99-GB4 RH Map	18	408.9	UniSTS
NCBI RH Map	18	735.6	UniSTS

STS-Z41050

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,711,645 - 59,711,702	UniSTS	GRCh37
Build 36	18	57,862,625 - 57,862,682	RGD	NCBI36
Celera	18	56,430,893 - 56,430,950	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,422,011 - 56,422,068	UniSTS
GeneMap99-GB4 RH Map	18	410.41	UniSTS
NCBI RH Map	18	735.6	UniSTS

REN77252

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	32,669,164 - 32,669,404	UniSTS	GRCh37
GRCh37	18	59,758,637 - 59,758,876	UniSTS	GRCh37
Build 36	18	57,909,617 - 57,909,856	RGD	NCBI36
Celera	22	16,471,383 - 16,471,623	UniSTS
Celera	18	56,477,871 - 56,478,110	RGD
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
HuRef	22	15,626,796 - 15,627,036	UniSTS
HuRef	18	56,469,543 - 56,469,782	UniSTS

REN77270

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	32,674,261 - 32,674,495	UniSTS	GRCh37
GRCh37	18	59,762,329 - 59,762,566	UniSTS	GRCh37
Build 36	18	57,913,309 - 57,913,546	RGD	NCBI36
Celera	18	56,481,563 - 56,481,800	RGD
Celera	22	16,476,484 - 16,476,718	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
HuRef	22	15,631,893 - 15,632,127	UniSTS
HuRef	18	56,473,235 - 56,473,472	UniSTS

REN77522

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	32,738,982 - 32,739,234	UniSTS	GRCh37
GRCh37	18	59,747,460 - 59,747,713	UniSTS	GRCh37
Build 36	18	57,898,440 - 57,898,693	RGD	NCBI36
Celera	18	56,466,695 - 56,466,948	RGD
Celera	22	16,541,154 - 16,541,406	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
HuRef	22	15,695,477 - 15,695,729	UniSTS
HuRef	18	56,458,366 - 56,458,619	UniSTS

SHGC-44499

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,711,621 - 59,711,721	UniSTS	GRCh37
Build 36	18	57,862,601 - 57,862,701	RGD	NCBI36
Celera	18	56,430,869 - 56,430,969	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,421,987 - 56,422,087	UniSTS
TNG Radiation Hybrid Map	18	24586.0	UniSTS

G19812

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,711,556 - 59,711,770	UniSTS	GRCh37
Build 36	18	57,862,536 - 57,862,750	RGD	NCBI36
Celera	18	56,430,804 - 56,431,018	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,421,922 - 56,422,136	UniSTS

A001Z15

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,711,556 - 59,711,770	UniSTS	GRCh37
Build 36	18	57,862,536 - 57,862,750	RGD	NCBI36
Celera	18	56,430,804 - 56,431,018	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,421,922 - 56,422,136	UniSTS
GeneMap99-GB4 RH Map	18	391.39	UniSTS

SGC44499

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	59,711,640 - 59,711,897	UniSTS	GRCh37
Build 36	18	57,862,620 - 57,862,877	RGD	NCBI36
Celera	18	56,430,888 - 56,431,147	RGD
Cytogenetic Map	18	q21.33	UniSTS
HuRef	18	56,422,006 - 56,422,265	UniSTS
GeneMap99-GB4 RH Map	18	406.82	UniSTS
Whitehead-RH Map	18	451.8	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_033144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_012327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_176787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525898	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025685	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054318471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC090354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC090396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF109219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137607	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF112133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM683126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM830623	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ023276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU739970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB093302	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB239067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FP340563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC027928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000357637 ⟹ ENSP00000350263

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,233 - 62,187,038 (-)	Ensembl

Ensembl Acc Id:

ENST00000400334 ⟹ ENSP00000383188

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,549 - 62,187,038 (-)	Ensembl

Ensembl Acc Id:

ENST00000585344 ⟹ ENSP00000465897

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,145,981 - 62,187,118 (-)	Ensembl

Ensembl Acc Id:

ENST00000585458 ⟹ ENSP00000466883

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,153,569 - 62,187,028 (-)	Ensembl

Ensembl Acc Id:

ENST00000585923 ⟹ ENSP00000467812

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,157,156 - 62,187,049 (-)	Ensembl

Ensembl Acc Id:

ENST00000585926 ⟹ ENSP00000468456

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,157,780 - 62,186,313 (-)	Ensembl

Ensembl Acc Id:

ENST00000586566 ⟹ ENSP00000467410

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,135,741 - 62,187,028 (-)	Ensembl

Ensembl Acc Id:

ENST00000587134

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,161,352 - 62,187,020 (-)	Ensembl

Ensembl Acc Id:

ENST00000587942

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,045,342 - 62,110,150 (-)	Ensembl

Ensembl Acc Id:

ENST00000588571 ⟹ ENSP00000466035

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,112,813 - 62,187,069 (-)	Ensembl

Ensembl Acc Id:

ENST00000588748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,146,996 - 62,158,005 (-)	Ensembl

Ensembl Acc Id:

ENST00000589339 ⟹ ENSP00000465506

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,112,811 - 62,187,028 (-)	Ensembl

Ensembl Acc Id:

ENST00000589414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,118,547 - 62,154,556 (-)	Ensembl

Ensembl Acc Id:

ENST00000589720 ⟹ ENSP00000468721

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,153,445 - 62,187,015 (-)	Ensembl

Ensembl Acc Id:

ENST00000590765 ⟹ ENSP00000464707

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,154,566 - 62,187,053 (-)	Ensembl

Ensembl Acc Id:

ENST00000590948 ⟹ ENSP00000465241

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,102,811 - 62,109,957 (-)	Ensembl

Ensembl Acc Id:

ENST00000591238 ⟹ ENSP00000466462

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,136,733 - 62,162,290 (-)	Ensembl

Ensembl Acc Id:

ENST00000592803 ⟹ ENSP00000466985

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,145,993 - 62,161,337 (-)	Ensembl

Ensembl Acc Id:

ENST00000593225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,162,263 - 62,187,038 (-)	Ensembl

Ensembl Acc Id:

ENST00000638167 ⟹ ENSP00000491549

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,242 - 62,186,998 (-)	Ensembl

Ensembl Acc Id:

ENST00000638183 ⟹ ENSP00000491013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,051,788 - 62,187,015 (-)	Ensembl

Ensembl Acc Id:

ENST00000638329 ⟹ ENSP00000492804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,112,565 - 62,187,049 (-)	Ensembl

Ensembl Acc Id:

ENST00000638369 ⟹ ENSP00000491811

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,723 - 62,187,067 (-)	Ensembl

Ensembl Acc Id:

ENST00000638424 ⟹ ENSP00000491963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,045,513 - 62,187,015 (-)	Ensembl

Ensembl Acc Id:

ENST00000638435 ⟹ ENSP00000491850

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,324 - 62,187,024 (-)	Ensembl

Ensembl Acc Id:

ENST00000638591 ⟹ ENSP00000492660

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,135,653 - 62,187,015 (-)	Ensembl

Ensembl Acc Id:

ENST00000638858

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,636 - 62,158,008 (-)	Ensembl

Ensembl Acc Id:

ENST00000638904 ⟹ ENSP00000491318

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,045,435 - 62,187,015 (-)	Ensembl

Ensembl Acc Id:

ENST00000638936 ⟹ ENSP00000492592

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,634 - 62,187,079 (-)	Ensembl

Ensembl Acc Id:

ENST00000638977 ⟹ ENSP00000491010

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,236 - 62,187,056 (-)	Ensembl

Ensembl Acc Id:

ENST00000639174 ⟹ ENSP00000492783

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,069,392 - 62,186,993 (-)	Ensembl

Ensembl Acc Id:

ENST00000639214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,105,040 - 62,186,975 (-)	Ensembl

Ensembl Acc Id:

ENST00000639342 ⟹ ENSP00000491022

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,301 - 62,187,017 (-)	Ensembl

Ensembl Acc Id:

ENST00000639372 ⟹ ENSP00000491459

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,041,164 - 62,102,821 (-)	Ensembl

Ensembl Acc Id:

ENST00000639491

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,311 - 62,076,027 (-)	Ensembl

Ensembl Acc Id:

ENST00000639600 ⟹ ENSP00000492474

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	61,905,255 - 62,154,623 (-)	Ensembl

Ensembl Acc Id:

ENST00000639681 ⟹ ENSP00000491929

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,350 - 62,187,046 (-)	Ensembl

Ensembl Acc Id:

ENST00000639758 ⟹ ENSP00000491475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,634 - 62,187,015 (-)	Ensembl

Ensembl Acc Id:

ENST00000639902 ⟹ ENSP00000490965

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,634 - 62,186,989 (-)	Ensembl

Ensembl Acc Id:

ENST00000639912 ⟹ ENSP00000490970

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,042,471 - 62,187,017 (-)	Ensembl

Ensembl Acc Id:

ENST00000640050 ⟹ ENSP00000492051

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,045,681 - 62,184,671 (-)	Ensembl

Ensembl Acc Id:

ENST00000640145 ⟹ ENSP00000491525

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,234 - 62,187,077 (-)	Ensembl

Ensembl Acc Id:

ENST00000640170 ⟹ ENSP00000491270

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,240 - 62,186,989 (-)	Ensembl

Ensembl Acc Id:

ENST00000640248

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,052,549 - 62,075,900 (-)	Ensembl

Ensembl Acc Id:

ENST00000640252 ⟹ ENSP00000492233

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,041,164 - 62,187,056 (-)	Ensembl

Ensembl Acc Id:

ENST00000640268 ⟹ ENSP00000491111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,045,369 - 62,187,077 (-)	Ensembl

Ensembl Acc Id:

ENST00000640540 ⟹ ENSP00000491620

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,044,257 - 62,187,019 (-)	Ensembl

Ensembl Acc Id:

ENST00000640593 ⟹ ENSP00000492017

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,045,187 - 62,187,017 (-)	Ensembl

Ensembl Acc Id:

ENST00000640682 ⟹ ENSP00000491415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,045,383 - 62,114,626 (-)	Ensembl

Ensembl Acc Id:

ENST00000640704

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,072,370 - 62,075,181 (-)	Ensembl

Ensembl Acc Id:

ENST00000640876 ⟹ ENSP00000491628

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	62,042,852 - 62,187,056 (-)	Ensembl

RefSeq Acc Id:

NM_012327 ⟹ NP_036459

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI
GRCh37	18	59,711,457 - 59,854,289 (-)	RGD
Build 36	18	57,862,437 - 58,005,269 (-)	NCBI Archive
Celera	18	56,430,705 - 56,573,517 (-)	RGD
HuRef	18	56,421,823 - 56,565,179 (-)	RGD
CHM1_1	18	59,707,055 - 59,849,802 (-)	NCBI
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

Sequence:

show sequence

GAGAATTATCGCGATAGCAGCAGCGGCCGGGCAGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAGGAATACCCTCCCGGCTATCGCTTCAGTGGGTAGAGGGGACCACTGC
CCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTCCAGAAACAGTATTATGTCTCAGTCCTGTGCAAAGTGAGATGAGCTG
TAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAAGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCT
TTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTG
TTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGT
GCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACA
CATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGAT
ACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACA
TGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCT
CTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGAT
GCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGT
GGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACAC
CATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGA
TTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAG
TAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGC
CAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTT
CTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCT
GGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCT
TTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATT
AGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGC
TCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATA
TAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTC
TATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAA
AAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGGACAAGCATCAGCCACTATGTGATTGTCATGTCCA
TGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCT
GATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAA
GGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGA
GCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAG
GTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATG
CTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAA
AAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTT
CTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTA
AAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTG
GTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTT
ACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGTCATAATTTATTTGTAATACTACT
TTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATG
TTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCC
TTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTATTACAACATTGTAAAGGGTGCTCAGTTTTTTTATCTTTCTTTATTTTGCTCTTTGAGGCATATCTTTTTCTTAATTTTGT
CCTTTCAGGTCAGTGTGAGTCTGTAGAATAGGTTGAACTTCCTTCTGACAGTATCATAGAGTTTGTGGAGTTTGTGTTGTGTGCCTGCAGCCACAGGCTCGCCTTGCTGCACCGTAACTGGCCCCTTC
AGACTCACATGGGAACAAGCCTTTTCTGTTGCAGTTTCCCAGATATCTTTAAATGTTTTGAAATGTATATTTTTATGTTGCAAAACAGAAAAAAGAAACGAGTTAGGGAAAAAGTATTTCTATTTAAG
GTATTTATTTTTTCATTCTACCTATGCCATAGATTTCTGAATCAAGACTTAGGACATTTGCTGATTAACAATGTTTAAATTAGGAATTGTTATAAGAATTAAAATAGGCAGAACAAGTTGTGAAAATA
TTGAACCAAAAAAAGGCCATGCTATCATCTTAGAGGGCCCATGAATAAACCTTAGAGGGAATCCTAAGGCTTTAGGAAACCGCTGCAGCTTGTCTGTCATTTTCCAATATGTTAATTATTATACTTAG
TGTACAGTATTTAGAATACAAAATGCTTTTTTATTTTTTAGGAAAATAATGTTATAAATGATTGTATATTTTCATAGTAATGTCTTTATAATTATTTATTAATGATAGAGCTGAATTAGAAAAGCTCT
TCATCCATTATAATATGGTTTCTCATGAAAAACTTATTACAAATTTCAGCCAACTCAGATATTAAGAACATCAGTGTCAATCCTCCTCCCCTCCTGCGACCTTTTTACACTTGTTTTGGTGGACTAGG
GGCTCCTTTTCTCCTCCTTTTTGACATATAACTGTGCCATTAAAAACATGATTTCTGATGAAGCTGGCCTAGAGGGAATGAAGGAGATTGCGTGGGTATGGTCTCTAGGACAGGCGTAGCTGTTGCAG
GGCCACCCTGTCCTTGGGAGAACCTGGTGAGCTCCCATATTCACACTAGATGCCATCATGTCAGGGGGCTGAAGAGAATGGAGCTAATCAACTCTGTCATTTGGAGAAGACCCCCTTCAGACCAGTTC
TGAGAACTCCTTCTTTTAAGAGACCAGAGATAACTTGATCATTTCTCACCTTTTCGTAGTTGTTCTTTTTTATGTTGACATTCCCCTTACTGTTTTTAAAATGCTTCAAAGCATTAATGATTGTTATG
CTGTGTGCTTTCAGTACTATGGCAATATCTTTGTAGCATTTTCCCATTTCTGTATAAGCATGGTTTTTTGTTTTTTTTTTTTTCGTTTTTGTTTTGAGACAGGGTCTCACTCTTGTTCAGGCTAGAAT
GCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATCCTGCCACCTCAGCCTCCTGAGTAGCTGAGACTACAGGCACATGCCCCCACACCTAGCTAATTTTAAAATATTTT
TTGATGGAGACAGGGTTTCACTATGTTTTCCAGGCAGCAGCATTTTTTTTTGACTGGGATTTCTTTATGATGCTTTGTTATTTAAAAAAAAAATGAGAAGGAAACATTAATAATCAAAATTATCTTTA
ATTGGCCTCACAGGGCTAAAATCTAGAATTATTATTACTCTTGGGTAAACTCATGAAAAGTACTTAATATTCATTCTATAAAGAAACAAAAAGAACCTTTGAGATGTGTCTCTTATTCATTTCCTTGG
GTACACTTAAAACGGGTTACAGTTACTGCTCAACTTTCTACCTTCAGAACTGCAGCATTTATTTGCCACACAGCAGCATTTATCAGAGATTGTCCCTTAGAACATTGGTTCCTTGTAATACAAATAAA
TGTCATAATAAAAATAGTTTCTTTTTTCTTTCTTTCTTTTTTTTTCAAGACAGACTCTGGCTCTCTCGCCAAGGCTGGAATGCAGTGGCGCAATGTCAGCTCACTGCAAGCTCCGCCTCCCTGGTTCA
AGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGTCTGGCTAATTTTCATATTTTTAGTACTGACAAGGTTTCACCATGTTTGTCAGGCTCATCTTGAACTCCT
GACCTCAAGCAGTTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCCTCACCCAGCTGAAAAGAGTTTCTTAATTAAATATATTTGAGAAACATCTAGTCAAACCACCTTAAA
TAGGTATATTTACATTAGTTCTAAGGGAATTTAACTTGTGATGTACGTTGTGAAGGGAGGAAGATAGCATTATGCCAAAAGTTTCCACTAGCTTGACAGCAGACCCTGTCTTAGAGTTTTCTTCCTGA
TTGGTAAACATAAGAAATGTTTCCAAAGCCGGGCTTGGTGGCTCACCCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAAGATGG
CAAAACCCCATCTCTACTAAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCCGGCGGGGTGGTAGGCTCCTGTAATCCTTGCTACTCAGGAG
CCTGAGGCATGAGAATTGCTTGAACCTGGGAGGTGGAATTTGCAATGAGCCGAGATGGTGCCACTCTGGGCGACAAAGTGAGACTCTGCCTCAAAAAGAAATGTCTCCATATAATTTTGCACTAAAAC
CTTAATTTGTCATAGTTTTGAAAATAGGGTGTTGTATGTTGATTGAATTTTTTTCCCTGAGAACTGGAATACCATTTTTACTTTAACCCTTAATGTGAGAAAACTTTACAATTTCCTGCAATTTTTCC
TGCCTCTGTATATATTACACCTGTCATCATTTAGTCTTTCATGTGGGAAAGGCCAGTGGTACCAGATTGCATTCGGTTCATCATGGCTCATTGTCTAGCCCTGCTAGAGTATAGACTAAGCCTTCATA
CCTTATGTTTTATATCTTTTACCTGAAAAATAAATTTGCACCAAATTTCAA

hide sequence

RefSeq Acc Id:

NM_176787 ⟹ NP_789744

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI
GRCh37	18	59,711,457 - 59,854,289 (-)	RGD
Build 36	18	57,862,437 - 58,005,269 (-)	NCBI Archive
Celera	18	56,430,705 - 56,573,517 (-)	RGD
HuRef	18	56,421,823 - 56,565,179 (-)	RGD
CHM1_1	18	59,707,055 - 59,849,802 (-)	NCBI
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

Sequence:

show sequence

GAGAATTATCGCGATAGCAGCAGCGGCCGGGCAGGTATTGGGGGCGTTCCGGAATTGAGGGGTG
GTTGTAGTGGTGGCTTAGGAATACCCTCCCGGCTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGG
CCTGACCGGGATAAGCTCCAGAAACAGTATTATGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAG
ATGATGATAAACCTGGAAGAGATTCACCAACAATAGCAAATTACACACTGGCTTGGAAAGTACTCCCATGTTCCGTTTGATCTTGGCAATTTAATGCTGTTCTTGAAGACTAATTAGTTACACTGGAT
ATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGC
GAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATAT
CTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAAT
GAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGC
AACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAG
ATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACA
TTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCA
GCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGG
GAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCA
TTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCT
TGCATTGAAAGGATTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTA
TAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTCAAGCCTGTCCCTGGACATATTATGTATATGGT
TTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAAT
TGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCT
TCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAA
AGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCAT
GAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCA
CAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCT
TATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGA
TCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTC
AGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGGACAAGCATCAGCCACTATGTG
ATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCA
GCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGT
TATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCC
AGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGA
AGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTA
GTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATT
TCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTT
TCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTA
GCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCTGCAGAGTTGG
CCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAATGACTAGGAAA
CCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGTCATAATTTAT
TTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTA
GCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGACCTTTTTCTAT
GTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTATTACAACATTGTAAAGGGTGCTCAGTTTTTTTATCTTTCTTTATTTTGCTCTTTGAGGCATATCTTT
TTCTTAATTTTGTCCTTTCAGGTCAGTGTGAGTCTGTAGAATAGGTTGAACTTCCTTCTGACAGTATCATAGAGTTTGTGGAGTTTGTGTTGTGTGCCTGCAGCCACAGGCTCGCCTTGCTGCACCGT
AACTGGCCCCTTCAGACTCACATGGGAACAAGCCTTTTCTGTTGCAGTTTCCCAGATATCTTTAAATGTTTTGAAATGTATATTTTTATGTTGCAAAACAGAAAAAAGAAACGAGTTAGGGAAAAAGT
ATTTCTATTTAAGGTATTTATTTTTTCATTCTACCTATGCCATAGATTTCTGAATCAAGACTTAGGACATTTGCTGATTAACAATGTTTAAATTAGGAATTGTTATAAGAATTAAAATAGGCAGAACA
AGTTGTGAAAATATTGAACCAAAAAAAGGCCATGCTATCATCTTAGAGGGCCCATGAATAAACCTTAGAGGGAATCCTAAGGCTTTAGGAAACCGCTGCAGCTTGTCTGTCATTTTCCAATATGTTAA
TTATTATACTTAGTGTACAGTATTTAGAATACAAAATGCTTTTTTATTTTTTAGGAAAATAATGTTATAAATGATTGTATATTTTCATAGTAATGTCTTTATAATTATTTATTAATGATAGAGCTGAA
TTAGAAAAGCTCTTCATCCATTATAATATGGTTTCTCATGAAAAACTTATTACAAATTTCAGCCAACTCAGATATTAAGAACATCAGTGTCAATCCTCCTCCCCTCCTGCGACCTTTTTACACTTGTT
TTGGTGGACTAGGGGCTCCTTTTCTCCTCCTTTTTGACATATAACTGTGCCATTAAAAACATGATTTCTGATGAAGCTGGCCTAGAGGGAATGAAGGAGATTGCGTGGGTATGGTCTCTAGGACAGGC
GTAGCTGTTGCAGGGCCACCCTGTCCTTGGGAGAACCTGGTGAGCTCCCATATTCACACTAGATGCCATCATGTCAGGGGGCTGAAGAGAATGGAGCTAATCAACTCTGTCATTTGGAGAAGACCCCC
TTCAGACCAGTTCTGAGAACTCCTTCTTTTAAGAGACCAGAGATAACTTGATCATTTCTCACCTTTTCGTAGTTGTTCTTTTTTATGTTGACATTCCCCTTACTGTTTTTAAAATGCTTCAAAGCATT
AATGATTGTTATGCTGTGTGCTTTCAGTACTATGGCAATATCTTTGTAGCATTTTCCCATTTCTGTATAAGCATGGTTTTTTGTTTTTTTTTTTTTCGTTTTTGTTTTGAGACAGGGTCTCACTCTTG
TTCAGGCTAGAATGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATCCTGCCACCTCAGCCTCCTGAGTAGCTGAGACTACAGGCACATGCCCCCACACCTAGCTAAT
TTTAAAATATTTTTTGATGGAGACAGGGTTTCACTATGTTTTCCAGGCAGCAGCATTTTTTTTTGACTGGGATTTCTTTATGATGCTTTGTTATTTAAAAAAAAAATGAGAAGGAAACATTAATAATC
AAAATTATCTTTAATTGGCCTCACAGGGCTAAAATCTAGAATTATTATTACTCTTGGGTAAACTCATGAAAAGTACTTAATATTCATTCTATAAAGAAACAAAAAGAACCTTTGAGATGTGTCTCTTA
TTCATTTCCTTGGGTACACTTAAAACGGGTTACAGTTACTGCTCAACTTTCTACCTTCAGAACTGCAGCATTTATTTGCCACACAGCAGCATTTATCAGAGATTGTCCCTTAGAACATTGGTTCCTTG
TAATACAAATAAATGTCATAATAAAAATAGTTTCTTTTTTCTTTCTTTCTTTTTTTTTCAAGACAGACTCTGGCTCTCTCGCCAAGGCTGGAATGCAGTGGCGCAATGTCAGCTCACTGCAAGCTCCG
CCTCCCTGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGTCTGGCTAATTTTCATATTTTTAGTACTGACAAGGTTTCACCATGTTTGTCAGGCTC
ATCTTGAACTCCTGACCTCAAGCAGTTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCCTCACCCAGCTGAAAAGAGTTTCTTAATTAAATATATTTGAGAAACATCTAGTC
AAACCACCTTAAATAGGTATATTTACATTAGTTCTAAGGGAATTTAACTTGTGATGTACGTTGTGAAGGGAGGAAGATAGCATTATGCCAAAAGTTTCCACTAGCTTGACAGCAGACCCTGTCTTAGA
GTTTTCTTCCTGATTGGTAAACATAAGAAATGTTTCCAAAGCCGGGCTTGGTGGCTCACCCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGT
CTGGCCAAGATGGCAAAACCCCATCTCTACTAAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCCGGCGGGGTGGTAGGCTCCTGTAATCCT
TGCTACTCAGGAGCCTGAGGCATGAGAATTGCTTGAACCTGGGAGGTGGAATTTGCAATGAGCCGAGATGGTGCCACTCTGGGCGACAAAGTGAGACTCTGCCTCAAAAAGAAATGTCTCCATATAAT
TTTGCACTAAAACCTTAATTTGTCATAGTTTTGAAAATAGGGTGTTGTATGTTGATTGAATTTTTTTCCCTGAGAACTGGAATACCATTTTTACTTTAACCCTTAATGTGAGAAAACTTTACAATTTC
CTGCAATTTTTCCTGCCTCTGTATATATTACACCTGTCATCATTTAGTCTTTCATGTGGGAAAGGCCAGTGGTACCAGATTGCATTCGGTTCATCATGGCTCATTGTCTAGCCCTGCTAGAGTATAGA
CTAAGCCTTCATACCTTATGTTTTATATCTTTTACCTGAAAAATAAATTTGCACCAAATTTCAA

hide sequence

RefSeq Acc Id:

XM_011525889 ⟹ XP_011524191

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAGGAATACCCTCCCGG
CTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTCCAGAAACAGTATTA
TGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAAGAGATTCACCAACA
ATAGCAAATTACACACTGGCTTGGAAAGTACTCCCATGTTCCGTTTGATCTTGGCAATTTAATGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTAT
ACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCC
TTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCA
GGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCC
AGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATG
TTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCG
AGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGA
CTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGA
GATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACT
GATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGA
TTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACAT
ATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCA
AGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCT
AAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCT
ATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATG
CCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATT
GGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCT
CTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTG
TCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCT
ATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGT
TCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTT
CTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGGACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTC
TCCCAATAGACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCATACGTGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCC
TGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAA
GGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAG
GCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCA
CAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAG
CACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCA
GGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTA
TACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGG
AGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAA
CAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGC
TTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAA
TAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTA
TAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATA
TTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAG
AAATTAATAAATATTTTATTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525890 ⟹ XP_011524192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGCAGCGGCCGGGCAGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAG
GAATACCCTCCCGGCTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTC
CAGAAACAGTATTATGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAA
GGTTATTTTGCCATCCTTTCCTTCCATGATGTGATTCTTCAGGCCAAGAAGAAAAAGATGTGTCTGTAGCTAAAATTACCTCATCCTTGGTGTTTTTCAGCCTAGGATCACTATATGTAGCTAATGCC
GTTACATTACAACTAAGACAAGTTCCAATACTTTTTTTTTTCTCCTCGATCTGCAGAGATTCACCAACAATAGCAAATTACACACTGGCTTGGAAAGTACTCCCATGTTCCGTTTGATCTTGGCAATT
TAATGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATG
GAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATT
AGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATG
GAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTT
ATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAA
GAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTAT
GTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGG
GAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACT
TCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAA
GGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTG
ATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTAT
GCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCT
GATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCC
ATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGG
ACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCT
TCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTC
AGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATA
CTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGT
TTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTT
TTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTT
GTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAG
CTGGCTTGATATTGGGACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTCTCCCAATAGACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCA
TACGTGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTC
ATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATG
GTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTT
TTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCC
AGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGT
TTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTT
TTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCC
CATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTG
TTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATG
ACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATT
ACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATT
TATGATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCT
AGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATA
AACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTATTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525891 ⟹ XP_011524193

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

ACGACTCCTCCATGATTGGTCAGAGAAGGAAGGCGTGGAGCGGACTGACGGGAGACTGGCCCGAGAATTATCGCGATAGCAGCAGCGGCCGGGCAGAAACAGTATTATGTCTCAGTCCTGTGCAAAGT
GAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAAGAGATTCACCAACAATAGCAAATTACACACTGGCT
TGGAAAGTACTCCCATGTTCCGTTTGATCTTGGCAATTTAATGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTC
CATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACG
AATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCT
GGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGC
CAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATG
CCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATT
AAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGG
TCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGC
TAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGC
ATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTT
AAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCG
TCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGT
TTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCA
GGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTA
CTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCA
GACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCT
GAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTAC
TGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGG
ATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAG
GGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAG
CCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATG
GCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGGACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTCTCCCAATAGACTGTGGATGCT
CTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCATACGTGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGA
AGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATGGAT
ATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTATATC
TGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCAGAG
GAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACAGTC
AGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCAGCT
AGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTAAAA
TAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGTTAA
ACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAAATA
TCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCTATT
TTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGTCAG
AAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAATGTT
TTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTTTTA
TCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTATTA
CAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525892 ⟹ XP_011524194

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGCAGCGGCCGGGCAGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAG
GAATACCCTCCCGGCTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTC
CAGAAACAGTATTATGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAA
GCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAAT
GACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGA
ATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAG
GAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGA
TGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGA
AAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTT
AACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGC
TGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCC
TTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTG
AAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGA
AGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCT
CTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATT
CAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTT
TGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTC
GAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTG
TTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAG
TAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTC
TTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGC
TGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGG
AACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTA
TGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGG
CTTGATATTGGGACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTCTCCCAATAGACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCATACG
TGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGT
GAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTAT
TTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTT
CCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAG
TCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGC
AGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTC
ATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATA
GCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTAT
TCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCT
TTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTA
ATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATG
ATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCT
GGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACA
CTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTATTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525893 ⟹ XP_011524195

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGCAGCGGCCGGGCAGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAGGAATACCCTCCCGGCTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAG
CTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTCCAGAGATTCACCAACAATAGCAAATTACACACTGGCTTGGAAAGTACTCCCATGTTCCGTTTGA
TCTTGGCAATTTAATGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCC
TTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAG
CACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTT
GCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTA
TACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTA
AAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAA
ATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTT
AGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCAC
CATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTT
GAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACA
CAGAAAGTTTGATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGAT
GGATATCTTATGCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCA
TTTTTTCTGCTGATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTA
TCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCA
CTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGC
TTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGT
GTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGAT
TGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAA
CAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGT
GACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCC
CCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAG
GATTATGGCAGCTGGCTTGATATTGGGACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTCTCCCAATAGACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCT
CTTACATGCCATACGTGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCA
AAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTG
TAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTC
CTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGC
TGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAAT
AAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTT
CACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAAC
ATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCA
TATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTA
TCCATAAAATGACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAA
GTTATAGCATTACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCT
TAATTTCTATTTATGATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATA
GCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAA
CTGACTGTATAAACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTATTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525894 ⟹ XP_011524196

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

GCGGACTGACGGGAGACTGGCCCGAGAATTATCGCGATAGCAGCAGCGGCCGGGCAGAAACAGTATTATGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAAC
ATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAAGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGT
GTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAG
ATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTA
GCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCT
GCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACT
TCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTAC
AAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTC
CCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGA
ATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTC
AAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACA
GTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGAT
TCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTC
CTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATT
TCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTA
CCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTA
GGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCT
GTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGG
TTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTG
ATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGA
TGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTT
TTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATA
TCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGGACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTCTCCCAATAG
ACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCATACGTGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGC
TGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAAT
AAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAAT
AGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCC
ACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTT
TGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTC
AGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGA
AAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAAT
AACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTA
ATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGT
ATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAA
TTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGA
GGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAA
AGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATA
AATATTTTATTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525895 ⟹ XP_011524197

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAGGAATACCCTCCCGG
CTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTCCAGCTGTTCTTGAA
GACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTT
TACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGC
ATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTA
GAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGA
GGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTT
TCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTAT
GGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTA
TCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTC
CCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAG
AAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTGGTCTCCCT
TTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTGTTGATCA
TCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTCAAGCCTGTCCC
TGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCT
GTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGA
CCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGT
GTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAG
GAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGT
CAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAG
CTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATAT
AGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTG
AAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGG
ACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTCTCCCAATAGACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCATACGTGCTTGCATCAG
CCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAA
GCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGA
ATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGC
AGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGG
CTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCA
TATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTT
TCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTAT
ATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTG
TGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCT
GCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAAT
GACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGT
CATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGA
AGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGAC
CTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTATTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525896 ⟹ XP_011524198

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAGGAATACCCTCCCGGCTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTT
CGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTCCAGAAACAGTATTATGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAG
ATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAAGAGATTCACCAACAATAGCAAATTACACACTGGCTTGGAAAGTACTCCCATGTTCCGTTTGATCTTGGCAATTTAATG
CTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATG
ACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAA
TATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGG
AAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGAT
GCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATGTTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAA
AATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTA
ACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGACTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCT
GGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCT
TATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGA
AAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGATTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAA
GTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTC
TTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCAAGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTC
AAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCTAAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTT
GTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCG
AGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGT
TATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGT
AGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCT
TTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCT
GTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGA
ACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTAT
GTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGC
TTGATATTGGGACAAGACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCATACGTGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTC
AATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATC
TCATCAAGGCTTCAATAAGAAGATGGATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGT
TTTGCAGGCATGAAATAGTGATTATATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCC
AGTCGCACAACTTCCCACATACCCAGAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAG
CTTTCAGCACTGGTTTTGTTAGACAGTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTA
TTTCTCAGGTTTTCTCAGTCAACCAGCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTC
TGTCTTATACATAGGAAAACATTTAAAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTT
TAACAGGAGTTAAAATAACTCCTGTTAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCAT
TTGTAAACAAATTCTAATGGGCAAAATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGAT
GCTAAGCTTTCCTGGTATGCGCCCTATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGG
GAGTGAATAAATACAATTTAAAAGTCAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAAC
TGTAGTATAAAAAAGAGGTATTAATGTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAAC
TTTCATATTACCTCAAAGGATTTTTTTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTA
TAAAGAGAAATTAATAAATATTTTATTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_011525898 ⟹ XP_011524200

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,052,932 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAGGAATACCCTCCCGG
CTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTCCAGAAACAGTATTA
TGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAAGAGATTCACCAACA
ATAGCAAATTACACACTGGCTTGGAAAGTACTCCCATGTTCCGTTTGATCTTGGCAATTTAATGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTAT
ACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCC
TTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCA
GGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCC
AGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATG
TTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCG
AGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGA
CTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGA
GATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACT
GATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAACTGCTTTCTGA
TTCCAAACAGTTCAACATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTGGTCTCCCTTTGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACAT
ATGACAGATTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTGTTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAGAAACCA
AGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTGATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTATGCGGTTCT
AAGAGAATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCT
ATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATG
CCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATT
GGTACATCTGTTACAGGTGCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCT
CTTCCTTGGTTGTGCCACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTG
TCTTGTTTGATGTTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCT
ATATCTGGATGACATCCGTAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGT
TCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTT
CTCGTCATATCAGACATTATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGGACAAGACTGTGGATGCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGC
CATACGTGCTTGAAAACTTCCTTCAGAGAAATAAAATA

hide sequence

RefSeq Acc Id:

XM_017025685 ⟹ XP_016881174

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

Sequence:

show sequence

AGGTATTGGGGGCGTTCCGGAATTGAGGGGTGGTTGTAGTGGTGGCTTAGGAATACCCTCCCGG
CTATCGCTTCAGTGGGTAGAGGGGACCACTGCCCGAGAGCTTTAATGGAGCTGGGTCCTGCCTTCGCGCTGAGGAGCCCTCGTTTTCGAGATCAGGCCTGACCGGGATAAGCTCCAGAAACAGTATTA
TGTCTCAGTCCTGTGCAAAGTGAGATGAGCTGTAGCCTTTGGAGACCTATAATTTTGAACATAGATGTTCCTTAAAAGCTAAATCTTTTTGAACAGATGATGATAAACCTGGAAGAGATTCACCAACA
ATAGCAAATTACACACTGGCTTGGAAAGTACTCCCATGTTCCGTTTGATCTTGGCAATTTAATGCTGTTCTTGAAGACTAATTAGTTACACTGGATATGCTGCTGTTCTTTACTTTGGGATTGCTTAT
ACATTTTGTGTTCTTCGCCTCCATCTTTGACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCTCCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCC
TTCGAGCAGATGCACTTTACGAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAGGAATATCATAATGCATGAAGGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCA
GGTCATGTAGCTCTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAGGATGGAAGGAAAATCCTGTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCC
AGATATCCTGCCTATGTTTGCCAAAGGTGCTAGTGGAGACCACGTTTATACATATAGTTATGATGCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGATAATG
TTAAGGACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAATGAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCG
AGAGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAAATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACCTCTGACCATGGAATGACAGA
CTGGGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTAACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAATTTGATGATGCATTTTTGAAAGAGTGGA
GATTGGAGAATTGGAAGAGGCTAGATGTCAATCAGGCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCAGTGGGAATCCTTCCTGTGGATTATCTTAACAACACT
GATCTCTTCAAAGCAGAGAGCATGTTTACAAATGCAGTACAGATTCTTGAACAGTTCAAGGTGAAAATGACTCAGAAGAAAGAAGTTACTTTACCATTTTTGTTTACACCATTTAAATTTCAAGTTAT
TCAGGACCTTGTTGTATCAGTGTTGACCTATCCTCTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTAGTTCTCAGTTTTTTCTACCGCTATATGCTTACCGCTGGAC
TTACTGCCTTTGCAGCTTGGCCATTTCTCACTCGGCTGTGGACTCGAGCAAAGATGACCTCACTGAGTTGGACTTTCTTCTCTTTGCTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAG
CCAGACATCTCTCTAGTGATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAAAGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAGGT
GCTGAGCACAGTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTGCCTCTCATGAATCAAATTATTAGCTGGGCAACATTAGCCTCTTCCTTGGTTGTGCCAC
TACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACCTACCTACTTCTAAGCACAGGGTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATGTTTGTC
TGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAAAAGCTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATATCTGGATGACATCCG
TAGGGCCTTTTTCCTTGTTTTCTTCTTAGTGACAGCATTTTTTGGAACTGGAAATATAGCTTCTATTAACAGCTTTGATCTTGCCTCTGTCTATTGCTTTCTGACTGTGTTCAGTCCTTTTATGATGG
GAGCCCTGATGATGTGGAAGATTTTAATCCCCTTTGTTCTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAGCCTTTTTCTCATTGTTCTCGTCATATCAGACATT
ATGGCTTTGCATTTTTTCTTCTTGGTCAAGGATTATGGCAGCTGGCTTGATATTGGGACAAGGCAACTCCTGGCATGTACTGCCTGGTTATTTATGTACATATCTGCCTCTCCCAATAGACTGTGGAT
GCTCTCAGATCCAGGATTGGATTTGAATCTCTTACATGCCATACGTGCTTGCATCAGCCACTATGTGATTGTCATGTCCATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAA
CGAAGAAACTCAGACTATGTGGCAAACCCAAAAGTCACTTCATGTGAGGTTGCTGAAGCACCATTCAGCATCTGGATCCTGATTCTCCTTTTAAGCTAAAATCTCATCAAGGCTTCAATAAGAAGATG
GATATGGATATATAGTATATTCTACTCCTGTAAGGAAAATGGTATTTGGAATTCCGAATTGACAGGTTATCTGGAACAAAGGAGCTTCTTTTTTTTTCTAGGTTTTGCAGGCATGAAATAGTGATTAT
ATCTGTGGAAAAGCATAGGAAGGCATTCTCCTTTTTCATTTTTTTCCTTTGGCTGGCAGCTCTTCCCAGTGATGTTGAGAGCACCTGCAGCAATCTGGTCCCCAGTCGCACAACTTCCCACATACCCA
GAGGAGAGCATATGCCTGTGGGGGCAGTGCTGATGGCATCCAGAGTCATTGCTGTGGCTGAGCTGGAAGGAAATCACCAGGTGCCACCGTCAATATTTATCAGCTTTCAGCACTGGTTTTGTTAGACA
GTCAGGGTGTATTATTTCAAGAGCTTCAATAAAAAAAGTGTTTGCAGGTATTTGTCATATTTCTTTAGTATGCAATAATGCTATCTTATCCTTTTTAGTGCTATTTCTCAGGTTTTCTCAGTCAACCA
GCTAGATGCATGTGATGCATGTCTATCCTTCACTTTTTTTTTTTCATTTCTGGATTTTCCTGGGATTTCTGACAACACAAAAGTAGAAAGTGCTTGGTATTTCTGTCTTATACATAGGAAAACATTTA
AAATAAATAGTTTTTAATTGTAGGCTCAACATCTGTTACCCCATAGCTTTTTCGTATATTGTTTCTTTCCCTTTGAATTTCTTTTTACTGTCATCTATTATTTTAACAGGAGTTAAAATAACTCCTGT
TAAACTTTCTGACAATATCATAAGAATTCATATTAAAGGTGTTATTCTTTCTGGTTGTGAGATTCTAGCACAAAGGCCTAAAATCATCAAATTAGATTTCCATTTGTAAACAAATTCTAATGGGCAAA
ATATCTTGAGAGCAGTTTTTATATGGATTATCCATAAAATGACCTTTACATATCCCTGCAGAGTTGGCCTTTTGCCCGTGGTGTGCTAGTAGCTTTGGCTGATGCTAAGCTTTCCTGGTATGCGCCCT
ATTTTTAAGAAGTAATTGCTTTTGAATTAAGTTATAGCATTACTAATTCATGTTAATGACTAGGAAACCCTCTGTAATTTACAAGATTTTTCAAATTGGTGGGGAGTGAATAAATACAATTTAAAAGT
CAGAAATCAGTTTGGCAAAGTGTACTTTCTTAATTTCTATTTATGATGAAGTATAGTCATAATTTATTTGTAATACTACTTTATGGTATACCAGTGAAAGAACTGTAGTATAAAAAAGAGGTATTAAT
GTTTTATGAAATCTCATGCATCAGTTCATAGCATAAAATCTAGCTGGACAACTAAGAAGCTATGGTAGCAAACAGTGATGTTGATGGAATGAGAATCATGAACTTTCATATTACCTCAAAGGATTTTT
TTATCAGTTTTTTTCACACATCAGAAAAAACTGACTGTATAAACACTTATCACTGACCTTTTTCTATGTGTAGTTTTGCCTTTTATCTTTTCCCAAATTTTTATAAAGAGAAATTAATAAATATTTTA
TTACAACATTGTAAA

hide sequence

RefSeq Acc Id:

XM_047437430 ⟹ XP_047293386

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,049,551 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437431 ⟹ XP_047293387

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,017,615 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437432 ⟹ XP_047293388

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437433 ⟹ XP_047293389

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437434 ⟹ XP_047293390

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437435 ⟹ XP_047293391

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437436 ⟹ XP_047293392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437437 ⟹ XP_047293393

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437438 ⟹ XP_047293394

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437439 ⟹ XP_047293395

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437440 ⟹ XP_047293396

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437441 ⟹ XP_047293397

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437442 ⟹ XP_047293398

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,049,551 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437443 ⟹ XP_047293399

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437444 ⟹ XP_047293400

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437445 ⟹ XP_047293401

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437446 ⟹ XP_047293402

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437447 ⟹ XP_047293403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437448 ⟹ XP_047293404

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437449 ⟹ XP_047293405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437450 ⟹ XP_047293406

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437451 ⟹ XP_047293407

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437452 ⟹ XP_047293408

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437453 ⟹ XP_047293409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437454 ⟹ XP_047293410

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437455 ⟹ XP_047293411

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437456 ⟹ XP_047293412

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437457 ⟹ XP_047293413

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437458 ⟹ XP_047293414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437459 ⟹ XP_047293415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,041,164 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437460 ⟹ XP_047293416

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437461 ⟹ XP_047293417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,017,615 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437462 ⟹ XP_047293418

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437463 ⟹ XP_047293419

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_047437464 ⟹ XP_047293420

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,048,624 - 62,187,056 (-)	NCBI

RefSeq Acc Id:

XM_054318431 ⟹ XP_054174406

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318432 ⟹ XP_054174407

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318433 ⟹ XP_054174408

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318434 ⟹ XP_054174409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318435 ⟹ XP_054174410

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,930 (-)	NCBI

RefSeq Acc Id:

XM_054318436 ⟹ XP_054174411

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318437 ⟹ XP_054174412

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,987 (-)	NCBI

RefSeq Acc Id:

XM_054318438 ⟹ XP_054174413

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,220,799 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318439 ⟹ XP_054174414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,255,876 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318440 ⟹ XP_054174415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,273,261 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318441 ⟹ XP_054174416

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318442 ⟹ XP_054174417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318443 ⟹ XP_054174418

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318444 ⟹ XP_054174419

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,900 (-)	NCBI

RefSeq Acc Id:

XM_054318445 ⟹ XP_054174420

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,907 (-)	NCBI

RefSeq Acc Id:

XM_054318446 ⟹ XP_054174421

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,993 (-)	NCBI

RefSeq Acc Id:

XM_054318447 ⟹ XP_054174422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318448 ⟹ XP_054174423

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,273,261 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318449 ⟹ XP_054174424

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,273,261 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318450 ⟹ XP_054174425

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,273,261 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318451 ⟹ XP_054174426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318452 ⟹ XP_054174427

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318453 ⟹ XP_054174428

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318454 ⟹ XP_054174429

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,922 (-)	NCBI

RefSeq Acc Id:

XM_054318455 ⟹ XP_054174430

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318456 ⟹ XP_054174431

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,899 (-)	NCBI

RefSeq Acc Id:

XM_054318457 ⟹ XP_054174432

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318458 ⟹ XP_054174433

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318459 ⟹ XP_054174434

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318460 ⟹ XP_054174435

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318461 ⟹ XP_054174436

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318462 ⟹ XP_054174437

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318463 ⟹ XP_054174438

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318464 ⟹ XP_054174439

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,244,099 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318465 ⟹ XP_054174440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318466 ⟹ XP_054174441

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,220,799 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318467 ⟹ XP_054174442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,273,261 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318468 ⟹ XP_054174443

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,273,261 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318469 ⟹ XP_054174444

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,936 (-)	NCBI

RefSeq Acc Id:

XM_054318470 ⟹ XP_054174445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI

RefSeq Acc Id:

XM_054318471 ⟹ XP_054174446

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	18	62,248,931 - 62,389,867 (-)	NCBI


Protein RefSeqs	NP_036459	(Get FASTA)	NCBI Sequence Viewer
	NP_789744	(Get FASTA)	NCBI Sequence Viewer
	XP_011524191	(Get FASTA)	NCBI Sequence Viewer
	XP_011524192	(Get FASTA)	NCBI Sequence Viewer
	XP_011524193	(Get FASTA)	NCBI Sequence Viewer
	XP_011524194	(Get FASTA)	NCBI Sequence Viewer
	XP_011524195	(Get FASTA)	NCBI Sequence Viewer
	XP_011524196	(Get FASTA)	NCBI Sequence Viewer
	XP_011524197	(Get FASTA)	NCBI Sequence Viewer
	XP_011524198	(Get FASTA)	NCBI Sequence Viewer
	XP_011524200	(Get FASTA)	NCBI Sequence Viewer
	XP_016881174	(Get FASTA)	NCBI Sequence Viewer
	XP_047293386	(Get FASTA)	NCBI Sequence Viewer
	XP_047293387	(Get FASTA)	NCBI Sequence Viewer
	XP_047293388	(Get FASTA)	NCBI Sequence Viewer
	XP_047293389	(Get FASTA)	NCBI Sequence Viewer
	XP_047293390	(Get FASTA)	NCBI Sequence Viewer
	XP_047293391	(Get FASTA)	NCBI Sequence Viewer
	XP_047293392	(Get FASTA)	NCBI Sequence Viewer
	XP_047293393	(Get FASTA)	NCBI Sequence Viewer
	XP_047293394	(Get FASTA)	NCBI Sequence Viewer
	XP_047293395	(Get FASTA)	NCBI Sequence Viewer
	XP_047293396	(Get FASTA)	NCBI Sequence Viewer
	XP_047293397	(Get FASTA)	NCBI Sequence Viewer
	XP_047293398	(Get FASTA)	NCBI Sequence Viewer
	XP_047293399	(Get FASTA)	NCBI Sequence Viewer
	XP_047293400	(Get FASTA)	NCBI Sequence Viewer
	XP_047293401	(Get FASTA)	NCBI Sequence Viewer
	XP_047293402	(Get FASTA)	NCBI Sequence Viewer
	XP_047293403	(Get FASTA)	NCBI Sequence Viewer
	XP_047293404	(Get FASTA)	NCBI Sequence Viewer
	XP_047293405	(Get FASTA)	NCBI Sequence Viewer
	XP_047293406	(Get FASTA)	NCBI Sequence Viewer
	XP_047293407	(Get FASTA)	NCBI Sequence Viewer
	XP_047293408	(Get FASTA)	NCBI Sequence Viewer
	XP_047293409	(Get FASTA)	NCBI Sequence Viewer
	XP_047293410	(Get FASTA)	NCBI Sequence Viewer
	XP_047293411	(Get FASTA)	NCBI Sequence Viewer
	XP_047293412	(Get FASTA)	NCBI Sequence Viewer
	XP_047293413	(Get FASTA)	NCBI Sequence Viewer
	XP_047293414	(Get FASTA)	NCBI Sequence Viewer
	XP_047293415	(Get FASTA)	NCBI Sequence Viewer
	XP_047293416	(Get FASTA)	NCBI Sequence Viewer
	XP_047293417	(Get FASTA)	NCBI Sequence Viewer
	XP_047293418	(Get FASTA)	NCBI Sequence Viewer
	XP_047293419	(Get FASTA)	NCBI Sequence Viewer
	XP_047293420	(Get FASTA)	NCBI Sequence Viewer
	XP_054174406	(Get FASTA)	NCBI Sequence Viewer
	XP_054174407	(Get FASTA)	NCBI Sequence Viewer
	XP_054174408	(Get FASTA)	NCBI Sequence Viewer
	XP_054174409	(Get FASTA)	NCBI Sequence Viewer
	XP_054174410	(Get FASTA)	NCBI Sequence Viewer
	XP_054174411	(Get FASTA)	NCBI Sequence Viewer
	XP_054174412	(Get FASTA)	NCBI Sequence Viewer
	XP_054174413	(Get FASTA)	NCBI Sequence Viewer
	XP_054174414	(Get FASTA)	NCBI Sequence Viewer
	XP_054174415	(Get FASTA)	NCBI Sequence Viewer
	XP_054174416	(Get FASTA)	NCBI Sequence Viewer
	XP_054174417	(Get FASTA)	NCBI Sequence Viewer
	XP_054174418	(Get FASTA)	NCBI Sequence Viewer
	XP_054174419	(Get FASTA)	NCBI Sequence Viewer
	XP_054174420	(Get FASTA)	NCBI Sequence Viewer
	XP_054174421	(Get FASTA)	NCBI Sequence Viewer
	XP_054174422	(Get FASTA)	NCBI Sequence Viewer
	XP_054174423	(Get FASTA)	NCBI Sequence Viewer
	XP_054174424	(Get FASTA)	NCBI Sequence Viewer
	XP_054174425	(Get FASTA)	NCBI Sequence Viewer
	XP_054174426	(Get FASTA)	NCBI Sequence Viewer
	XP_054174427	(Get FASTA)	NCBI Sequence Viewer
	XP_054174428	(Get FASTA)	NCBI Sequence Viewer
	XP_054174429	(Get FASTA)	NCBI Sequence Viewer
	XP_054174430	(Get FASTA)	NCBI Sequence Viewer
	XP_054174431	(Get FASTA)	NCBI Sequence Viewer
	XP_054174432	(Get FASTA)	NCBI Sequence Viewer
	XP_054174433	(Get FASTA)	NCBI Sequence Viewer
	XP_054174434	(Get FASTA)	NCBI Sequence Viewer
	XP_054174435	(Get FASTA)	NCBI Sequence Viewer
	XP_054174436	(Get FASTA)	NCBI Sequence Viewer
	XP_054174437	(Get FASTA)	NCBI Sequence Viewer
	XP_054174438	(Get FASTA)	NCBI Sequence Viewer
	XP_054174439	(Get FASTA)	NCBI Sequence Viewer
	XP_054174440	(Get FASTA)	NCBI Sequence Viewer
	XP_054174441	(Get FASTA)	NCBI Sequence Viewer
	XP_054174442	(Get FASTA)	NCBI Sequence Viewer
	XP_054174443	(Get FASTA)	NCBI Sequence Viewer
	XP_054174444	(Get FASTA)	NCBI Sequence Viewer
	XP_054174445	(Get FASTA)	NCBI Sequence Viewer
	XP_054174446	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD11432	(Get FASTA)	NCBI Sequence Viewer
	AAH28363	(Get FASTA)	NCBI Sequence Viewer
	BAG37585	(Get FASTA)	NCBI Sequence Viewer
	CAB70839	(Get FASTA)	NCBI Sequence Viewer
	EAW63116	(Get FASTA)	NCBI Sequence Viewer
	EAW63117	(Get FASTA)	NCBI Sequence Viewer
	EAW63118	(Get FASTA)	NCBI Sequence Viewer
	EAW63119	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000350263
	ENSP00000350263.4
	ENSP00000383188
	ENSP00000383188.2
	ENSP00000490965
	ENSP00000491013
	ENSP00000491525.1
	ENSP00000491549
	ENSP00000491620
	ENSP00000491628
	ENSP00000491628.1
	ENSP00000491963
	ENSP00000492051.1
	ENSP00000492233
	ENSP00000492233.1
	ENSP00000492592
	ENSP00000492592.1
	ENSP00000492783
GenBank Protein	O95427	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_036459 ⟸ NM_012327

- UniProtKB:

Q8TC01 (UniProtKB/Swiss-Prot), Q7L8F8 (UniProtKB/Swiss-Prot), Q9NT05 (UniProtKB/Swiss-Prot), O95427 (UniProtKB/Swiss-Prot), B2RCI8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFN
ESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTT
FIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLP
FLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYG
LLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMK
RKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFS
YNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYV
IVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM

hide sequence

RefSeq Acc Id:

NP_789744 ⟸ NM_176787

- UniProtKB:

Q8TC01 (UniProtKB/Swiss-Prot), Q7L8F8 (UniProtKB/Swiss-Prot), Q9NT05 (UniProtKB/Swiss-Prot), O95427 (UniProtKB/Swiss-Prot), B2RCI8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDE
NGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNN
QSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVN
QADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVV
IGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFA
AWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSP
VLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMM
WKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM

hide sequence

RefSeq Acc Id:	XP_011524193 ⟸ XM_011525891
- Peptide Label:	isoform X1
- UniProtKB:	A0A1W2PQA9 (UniProtKB/TrEMBL), B2RCI8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFN ESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTT FIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLP FLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYG LLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMK RKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFS YNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRQLLAC TAWLFMYISASPNRLWMLSDPGLDLNLLHAIRACISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM hide sequence

RefSeq Acc Id:	XP_011524196 ⟸ XM_011525894
- Peptide Label:	isoform X1
- UniProtKB:	A0A1W2PQA9 (UniProtKB/TrEMBL), B2RCI8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFN ESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTT FIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLP FLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYG LLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMK RKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFS YNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRQLLAC TAWLFMYISASPNRLWMLSDPGLDLNLLHAIRACISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM hide sequence

RefSeq Acc Id:	XP_011524195 ⟸ XM_011525893
- Peptide Label:	isoform X1
- UniProtKB:	A0A1W2PQA9 (UniProtKB/TrEMBL), B2RCI8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFN ESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTT FIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLP FLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYG LLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMK RKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFS YNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRQLLAC TAWLFMYISASPNRLWMLSDPGLDLNLLHAIRACISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM hide sequence

Protein Domains

GPI ethanolamine phosphate transferase 1 C-terminal Sulfatase N-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O95427-F1-model_v2	AlphaFold	O95427	1-931	view protein structure

RGD ID:

6794959

Promoter ID:

HG_KWN:28133

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000256858, NM_012327, NM_176787, OTTHUMT00000256187, UC002LII.2, UC002LIJ.2, UC002LIK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	58,004,866 - 58,006,437 (-)	MPROMDB

RGD ID:

7237473

Promoter ID:

EPDNEW_H24482

Type:

initiation region

Name:

PIGN_1

Description:

phosphatidylinositol glycan anchor biosynthesis class N

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	62,186,993 - 62,187,053	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PIGN	COSMIC
Ensembl Genes	ENSG00000197563	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000357637	ENTREZGENE
	ENST00000357637.10	UniProtKB/Swiss-Prot
	ENST00000400334	ENTREZGENE
	ENST00000400334.7	UniProtKB/Swiss-Prot
	ENST00000638167	ENTREZGENE
	ENST00000638183	ENTREZGENE
	ENST00000638424	ENTREZGENE
	ENST00000638936	ENTREZGENE
	ENST00000638936.1	UniProtKB/Swiss-Prot
	ENST00000639174	ENTREZGENE
	ENST00000639902	ENTREZGENE
	ENST00000640050.1	UniProtKB/Swiss-Prot
	ENST00000640145.1	UniProtKB/Swiss-Prot
	ENST00000640252	ENTREZGENE
	ENST00000640252.2	UniProtKB/Swiss-Prot
	ENST00000640540	ENTREZGENE
	ENST00000640876	ENTREZGENE
	ENST00000640876.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.720.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000197563	GTEx
HGNC ID	HGNC:8967	ENTREZGENE
Human Proteome Map	PIGN	Human Proteome Map
InterPro	Alkaline_phosphatase_core_sf	UniProtKB/Swiss-Prot
	GPI_EtnP_transferase_1	UniProtKB/Swiss-Prot
	GPI_EtnP_transferase_1_C	UniProtKB/Swiss-Prot
	Phosphodiest/P_Trfase	UniProtKB/Swiss-Prot
	PIGN_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:23556	UniProtKB/Swiss-Prot
NCBI Gene	23556	ENTREZGENE
OMIM	606097	OMIM
PANTHER	GPI ETHANOLAMINE PHOSPHATE TRANSFERASE 1	UniProtKB/Swiss-Prot
	PTHR12250	UniProtKB/Swiss-Prot
Pfam	Phosphodiest	UniProtKB/Swiss-Prot
	PigN	UniProtKB/Swiss-Prot
PharmGKB	PA33298	PharmGKB
Superfamily-SCOP	SSF53649	UniProtKB/Swiss-Prot
UniProt	A0A1W2PNH8_HUMAN	UniProtKB/TrEMBL
	A0A1W2PNQ8_HUMAN	UniProtKB/TrEMBL
	A0A1W2PNR0	ENTREZGENE, UniProtKB/TrEMBL
	A0A1W2PNW5_HUMAN	UniProtKB/TrEMBL
	A0A1W2PPA0_HUMAN	UniProtKB/TrEMBL
	A0A1W2PPB6_HUMAN	UniProtKB/TrEMBL
	A0A1W2PPK6_HUMAN	UniProtKB/TrEMBL
	A0A1W2PPR7	ENTREZGENE, UniProtKB/TrEMBL
	A0A1W2PQ49_HUMAN	UniProtKB/TrEMBL
	A0A1W2PQA9	ENTREZGENE, UniProtKB/TrEMBL
	A0A1W2PQP4	ENTREZGENE, UniProtKB/TrEMBL
	A0A1W2PQR8_HUMAN	UniProtKB/TrEMBL
	A0A1W2PQZ1_HUMAN	UniProtKB/TrEMBL
	A0A1W2PR74_HUMAN	UniProtKB/TrEMBL
	A0A1W2PRH3_HUMAN	UniProtKB/TrEMBL
	A0A1W2PS19	ENTREZGENE, UniProtKB/TrEMBL
	B2RCI8	ENTREZGENE, UniProtKB/TrEMBL
	K7EID9_HUMAN	UniProtKB/TrEMBL
	K7EJM6_HUMAN	UniProtKB/TrEMBL
	K7EL34_HUMAN	UniProtKB/TrEMBL
	K7ELE1_HUMAN	UniProtKB/TrEMBL
	K7EMD7_HUMAN	UniProtKB/TrEMBL
	K7ENK2_HUMAN	UniProtKB/TrEMBL
	K7EPJ2_HUMAN	UniProtKB/TrEMBL
	K7EQG0_HUMAN	UniProtKB/TrEMBL
	K7ERX5_HUMAN	UniProtKB/TrEMBL
	K7ESH9_HUMAN	UniProtKB/TrEMBL
	O95427	ENTREZGENE, UniProtKB/Swiss-Prot
	Q7L8F8	ENTREZGENE
	Q8TC01	ENTREZGENE
	Q9NT05	ENTREZGENE
UniProt Secondary	Q7L8F8	UniProtKB/Swiss-Prot
	Q8TC01	UniProtKB/Swiss-Prot
	Q9NT05	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2022-04-14	PIGN	phosphatidylinositol glycan anchor biosynthesis class N	LOC105372158	uncharacterized LOC105372158	Data merged from RGD:38675425	737654	PROVISIONAL
2015-11-10	PIGN	phosphatidylinositol glycan anchor biosynthesis class N	PIGN	phosphatidylinositol glycan anchor biosynthesis, class N	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIA

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar