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Gene: DIAPH1 (diaphanous related formin 1) Homo sapiens

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Symbol:

DIAPH1

Name:

diaphanous related formin 1

RGD ID:

1321771

HGNC Page

HGNC:2876

Description:

Enables transmembrane transporter binding activity. Involved in several processes, including cellular response to histamine; protein localization to microtubule; and regulation of release of sequestered calcium ion into cytosol. Located in mitotic spindle. Implicated in autosomal dominant nonsyndromic deafness 1 and sensorineural hearing loss.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DFNA1; DIA1; diaphanous homolog 1; diaphanous-related formin 1; diaphanous-related formin-1; DRF1; FLJ25265; hDIA1; LFHL1; mammalian diaphanous related formin 1; mDia1; SCBMS

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Diaph1 (diaphanous related formin 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Diaph1 (diaphanous-related formin 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Diaph1 (diaphanous related formin 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	DIAPH1 (diaphanous related formin 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	DIAPH1 (diaphanous related formin 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Diaph1 (diaphanous related formin 1)	NCBI	Ortholog
Sus scrofa (pig):	DIAPH1 (diaphanous related formin 1)	HGNC	NCBI
Chlorocebus sabaeus (green monkey):	DIAPH1 (diaphanous related formin 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Diaph1 (diaphanous related formin 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Rbm38 (RNA binding motif protein 38)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Diaph1 (diaphanous-related formin 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Diaph1 (diaphanous related formin 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	BNI1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	BNR1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|SonicParanoid)
Caenorhabditis elegans (roundworm):	cyk-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	dia	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	diaph1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	diaph1.L	Alliance	DIOPT (Xenbase)

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	5	141,515,021 - 141,619,000 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,515,016 - 141,619,055 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,894,588 - 140,998,567 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,874,772 - 140,978,747 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,874,772 - 140,978,691	NCBI
Celera	5	136,971,324 - 137,075,350 (-)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	136,039,428 - 136,143,262 (-)	NCBI		HuRef
CHM1_1	5	140,327,865 - 140,431,904 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	142,041,005 - 142,145,005 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	sensorineural hearing loss	susceptibility	IAGP		1601058	autosomal dominant nonsyndromic sensorineural deafness 1 more ...	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	autosomal dominant intellectual developmental disorder 31		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:25741868 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:17576681 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:16199547 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:24033266 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:17576681 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: KONIGSMARK SYNDROME	ClinVar	PMID:25741868 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:16199547 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:24781755 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:24033266 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:24033266 and PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:25741868 and PMID:27808407
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DIAPH1-related condition	ClinVar	PMID:23804846 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:24033266 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:28492532 and PMID:30311386
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:28492532 and PMID:34125151
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:24781755 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:24781755 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:28492532 and PMID:33229591
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:24781755 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:25342930 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:28492532 and PMID:36118902
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:17576681 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: KONIGSMARK SYNDROME	ClinVar	PMID:24033266 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:16199547 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:17576681 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:28492532 and PMID:35307828
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DEAFNESS more ...	ClinVar	PMID:25640679 and PMID:28492532
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:24781755 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:16199547 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:23804846 more ...
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 1	ClinVar	PMID:27808407
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DIAPH1-related condition	ClinVar	PMID:22938506 and PMID:28492532
DIAPH1	Human	autosomal recessive nonsyndromic deafness 9		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	ClinVar
DIAPH1	Human	benign neonatal seizures		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Neonatal seizure	ClinVar
DIAPH1	Human	beta-mannosidosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Beta-D-mannosidosis	ClinVar	PMID:28492532 and PMID:30311386
DIAPH1	Human	Deafness		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness	ClinVar	PMID:25741868 and PMID:26463574
DIAPH1	Human	Developmental Disabilities		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:24781755 more ...
DIAPH1	Human	epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure Disorders	ClinVar	PMID:24781755 more ...
DIAPH1	Human	epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure Disorders	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Failure to Thrive		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Failure to thrive	ClinVar	PMID:24781755 more ...
DIAPH1	Human	familial adenomatous polyposis 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial adenomatous polyposis 1	ClinVar	PMID:17963004 more ...
DIAPH1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:22938506 and PMID:28492532
DIAPH1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
DIAPH1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24033266 more ...
DIAPH1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
DIAPH1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24033266 more ...
DIAPH1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
DIAPH1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24033266 and PMID:28492532
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:30311386
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Mixed	ClinVar
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Mixed	ClinVar	PMID:25741868
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Mixed	ClinVar	PMID:28492532
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:28492532 and PMID:30311386
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:32581362
DIAPH1	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Mixed	ClinVar	PMID:24033266 more ...
DIAPH1	Human	Hereditary Neoplastic Syndromes		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:17963004 more ...
DIAPH1	Human	microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:24781755 more ...
DIAPH1	Human	microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25741868 more ...
DIAPH1	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
DIAPH1	Human	Pendred syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pendred syndrome	ClinVar	PMID:30311386
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:23804846 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:17576681 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:25741868 and PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24033266 and PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:17576681 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:16199547 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:25741868 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:16199547 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:25741868 and PMID:26463574
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:26463574
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:25741868
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:25741868 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:22938506 and PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532 and PMID:34125151
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532 and PMID:30311386
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532 and PMID:33229591
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:25342930 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532 and PMID:36118902
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:17576681 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:16199547 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:25640679 and PMID:28492532
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:28492532 and PMID:35307828
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:23804846 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:17576681 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:16199547 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures more ...	ClinVar	PMID:24033266 more ...
DIAPH1	Human	vascular dementia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vascular dementia	ClinVar	PMID:28492532 and PMID:35307828

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	autosomal dominant nonsyndromic deafness 1		IAGP		7240710		OMIM
DIAPH1	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		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)
DIAPH1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of DIAPH1 mRNA	CTD	PMID:22206623
DIAPH1	Human	1-chloro-2,4-dinitrobenzene	affects binding	EXP		6480464	Dinitrochlorobenzene binds to DIAPH1 protein	CTD	PMID:32991956
DIAPH1	Human	17beta-estradiol	decreases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	Estradiol results in decreased expression of DIAPH1 mRNA	CTD	PMID:32145629
DIAPH1	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of DIAPH1 mRNA	CTD	PMID:31614463
DIAPH1	Human	17beta-estradiol	increases expression	ISO	Diaph1 (Mus musculus)	6480464	Estradiol results in increased expression of DIAPH1 mRNA	CTD	PMID:39298647
DIAPH1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Diaph1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of DIAPH1 mRNA	CTD	PMID:21570461
DIAPH1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of DIAPH1 mRNA	CTD	PMID:33387578
DIAPH1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of DIAPH1 mRNA	CTD	PMID:34747641
DIAPH1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Diaph1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of DIAP1 mRNA	CTD	PMID:26290441
DIAPH1	Human	2,4,6-tribromophenol	decreases expression	EXP		6480464	2 more ...	CTD	PMID:31675489
DIAPH1	Human	2,4-dinitrotoluene	affects expression	ISO	Diaph1 (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of DIAPH1 mRNA	CTD	PMID:21346803
DIAPH1	Human	2,6-dinitrotoluene	affects expression	ISO	Diaph1 (Rattus norvegicus)	6480464	2 and 6-dinitrotoluene affects the expression of DIAPH1 mRNA	CTD	PMID:21346803
DIAPH1	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of DIAPH1 mRNA	CTD	PMID:37199045
DIAPH1	Human	3-chloropropane-1,2-diol	increases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	alpha-Chlorohydrin results in increased expression of DIAPH1 protein	CTD	PMID:34915118
DIAPH1	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of DIAPH1 mRNA	CTD	PMID:28628672
DIAPH1	Human	3-methylcholanthrene	multiple interactions	EXP		6480464	Methylcholanthrene promotes the reaction [AHR protein binds to DIAPH1 promoter]	CTD	PMID:20348232
DIAPH1	Human	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of DIAPH1 mRNA	CTD	PMID:28628672
DIAPH1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Diaph1 (Mus musculus)	6480464	bisphenol S results in increased expression of DIAPH1 mRNA	CTD	PMID:39298647
DIAPH1	Human	4-vinylcyclohexene dioxide	affects expression	ISO	Diaph1 (Mus musculus)	6480464	4-vinyl-1-cyclohexene dioxide affects the expression of DIAPH1 mRNA	CTD	PMID:20829426
DIAPH1	Human	6-propyl-2-thiouracil	increases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of DIAPH1 mRNA	CTD	PMID:22504374
DIAPH1	Human	aflatoxin B1	increases mutagenesis	ISO	Diaph1 (Rattus norvegicus)	6480464	Aflatoxin B1 results in increased mutagenesis of DIAPH1 gene	CTD	PMID:36908029
DIAPH1	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of DIAPH1 mRNA	CTD	PMID:33167477
DIAPH1	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of DIAPH1 mRNA	CTD	PMID:24449571
DIAPH1	Human	arsane	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of DIAPH1 mRNA	CTD	PMID:39836092
DIAPH1	Human	arsenic atom	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of DIAPH1 mRNA	CTD	PMID:39836092
DIAPH1	Human	arsenite(3-)	increases expression	ISO	Diaph1 (Mus musculus)	6480464	arsenite results in increased expression of DIAPH1 mRNA	CTD	PMID:18191166
DIAPH1	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of DIAPH1 mRNA	CTD	PMID:19128835
DIAPH1	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of DIAPH1 mRNA	CTD	PMID:22378314
DIAPH1	Human	benzo[a]pyrene	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of DIAP1 mRNA	CTD	PMID:27858113
DIAPH1	Human	benzo[a]pyrene	increases methylation	ISO	Diaph1 (Mus musculus)	6480464	Benzo(a)pyrene results in increased methylation of DIAP1 exon and Benzo(a)pyrene results in increased methylation of DIAP1 intron	CTD	PMID:27901495
DIAPH1	Human	benzo[b]fluoranthene	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of DIAP1 mRNA	CTD	PMID:27858113
DIAPH1	Human	bis(2-ethylhexyl) phthalate	increases expression	EXP		6480464	Diethylhexyl Phthalate results in increased expression of DIAPH1 mRNA	CTD	PMID:31163220
DIAPH1	Human	bisphenol A	increases methylation	ISO	Diaph1 (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of DIAPH1 gene	CTD	PMID:28505145
DIAPH1	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of DIAPH1 gene	CTD	PMID:31601247
DIAPH1	Human	bisphenol A	decreases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of DIAPH1 mRNA	CTD	PMID:34947998
DIAPH1	Human	bisphenol A	affects expression	ISO	Diaph1 (Rattus norvegicus)	6480464	bisphenol A affects the expression of DIAPH1 mRNA	CTD	PMID:32145629
DIAPH1	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of DIAPH1 mRNA and bisphenol A results in decreased expression of DIAPH1 protein	CTD	PMID:29275510 more ...
DIAPH1	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of DIAPH1 protein	CTD	PMID:34186270
DIAPH1	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of DIAPH1 protein	CTD	PMID:35688186
DIAPH1	Human	carbon nanotube	decreases expression	ISO	Diaph1 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
DIAPH1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to DIAPH1 gene]	CTD	PMID:28238834
DIAPH1	Human	chrysene	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of DIAP1 mRNA	CTD	PMID:27858113
DIAPH1	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of DIAPH1 mRNA	CTD	PMID:27594783
DIAPH1	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of DIAPH1 mRNA	CTD	PMID:28628672
DIAPH1	Human	dextran sulfate	increases expression	ISO	Diaph1 (Mus musculus)	6480464	Dextran Sulfate results in increased expression of DIAPH1 protein	CTD	PMID:35362542
DIAPH1	Human	dextran sulfate	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	evodiamine inhibits the reaction [Dextran Sulfate results in increased expression of DIAPH1 protein]	CTD	PMID:35362542
DIAPH1	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of DIAPH1 mRNA	CTD	PMID:19128835
DIAPH1	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of DIAPH1 mRNA	CTD	PMID:37042841
DIAPH1	Human	dicrotophos	increases expression	EXP		6480464	dicrotophos results in increased expression of DIAPH1 mRNA	CTD	PMID:28302478
DIAPH1	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of DIAPH1 protein	CTD	PMID:23301498
DIAPH1	Human	ethanol	increases expression	ISO	Diaph1 (Mus musculus)	6480464	Ethanol results in increased expression of DIAP1 mRNA	CTD	PMID:30319688
DIAPH1	Human	Evodiamine	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	evodiamine inhibits the reaction [Dextran Sulfate results in increased expression of DIAPH1 protein]	CTD	PMID:35362542
DIAPH1	Human	finasteride	increases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	Finasteride results in increased expression of DIAPH1 mRNA	CTD	PMID:24136188
DIAPH1	Human	folic acid	decreases expression	ISO	Diaph1 (Mus musculus)	6480464	Folic Acid results in decreased expression of DIAP1 mRNA	CTD	PMID:25629700
DIAPH1	Human	folic acid	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of DIAPH1 mRNA	CTD	PMID:22206623
DIAPH1	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of DIAPH1 protein	CTD	PMID:37730182
DIAPH1	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of DIAPH1 gene	CTD	PMID:31601247
DIAPH1	Human	gallic acid	increases expression	EXP		6480464	Gallic Acid results in increased expression of DIAPH1 mRNA	CTD	PMID:34408198
DIAPH1	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of DIAPH1 mRNA	CTD	PMID:28628672
DIAPH1	Human	inulin	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of DIAPH1 mRNA	CTD	PMID:36331819
DIAPH1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of DIAPH1 protein	CTD	PMID:32959892
DIAPH1	Human	jaspamide	affects localization	ISO	Diaph1 (Mus musculus)	6480464	jasplakinolide affects the localization of DIAPH1 protein	CTD	PMID:22918941
DIAPH1	Human	kanamycin A	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	Kanamycin inhibits the reaction [DIAPH1 binds to RHOA]	CTD	PMID:16521128
DIAPH1	Human	kanamycin A	decreases expression	ISO	Diaph1 (Mus musculus)	6480464	Kanamycin results in decreased expression of DIAPH1 protein	CTD	PMID:16521128
DIAPH1	Human	latrunculin A	affects localization	ISO	Diaph1 (Mus musculus)	6480464	latrunculin A affects the localization of DIAPH1 protein	CTD	PMID:22918941
DIAPH1	Human	methimazole	increases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	Methimazole results in increased expression of DIAPH1 mRNA	CTD	PMID:22504374
DIAPH1	Human	methoxychlor	affects expression	ISO	Diaph1 (Mus musculus)	6480464	Methoxychlor affects the expression of DIAPH1 mRNA	CTD	PMID:20829426
DIAPH1	Human	methoxychlor	affects methylation	ISO	Diaph1 (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of DIAPH1 gene	CTD	PMID:35440735
DIAPH1	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of DIAPH1 mRNA	CTD	PMID:25583101
DIAPH1	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of DIAPH1 mRNA	CTD	PMID:21420995
DIAPH1	Human	perfluorohexanesulfonic acid	decreases expression	ISO	Diaph1 (Mus musculus)	6480464	perfluorohexanesulfonic acid results in decreased expression of DIAPH1 mRNA	CTD	PMID:37995155
DIAPH1	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of DIAPH1 mRNA and [perfluorooctane sulfonic acid co-treated with Pectins] results in decreased expression of DIAPH1 mRNA	CTD	PMID:36331819
DIAPH1	Human	piroxicam	decreases expression	EXP		6480464	Piroxicam results in decreased expression of DIAPH1 mRNA	CTD	PMID:21858171
DIAPH1	Human	progesterone	decreases expression	EXP		6480464	Progesterone results in decreased expression of DIAPH1 mRNA	CTD	PMID:18037150
DIAPH1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of DIAPH1 mRNA	CTD	PMID:34032870
DIAPH1	Human	sodium arsenite	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of DIAPH1 mRNA	CTD	PMID:39836092
DIAPH1	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of DIAPH1 mRNA	CTD	PMID:31533062
DIAPH1	Human	tetraphene	decreases expression	ISO	Diaph1 (Mus musculus)	6480464	benz(a)anthracene results in decreased expression of DIAP1 mRNA	CTD	PMID:26377693
DIAPH1	Human	tetraphene	multiple interactions	ISO	Diaph1 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of DIAP1 mRNA	CTD	PMID:27858113
DIAPH1	Human	titanium dioxide	increases expression	ISO	Diaph1 (Mus musculus)	6480464	titanium dioxide results in increased expression of DIAP1 mRNA and titanium dioxide results in increased expression of DIAPH1 mRNA	CTD	PMID:29128614 and PMID:29264374
DIAPH1	Human	titanium dioxide	decreases methylation	ISO	Diaph1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of DIAP1 gene	CTD	PMID:35295148
DIAPH1	Human	trichloroethene	decreases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	Trichloroethylene results in decreased expression of DIAPH1 mRNA	CTD	PMID:33387578
DIAPH1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of DIAPH1 mRNA	CTD	PMID:37042841
DIAPH1	Human	triptonide	increases expression	ISO	Diaph1 (Mus musculus)	6480464	triptonide results in increased expression of DIAPH1 mRNA	CTD	PMID:33045310
DIAPH1	Human	tungsten	decreases expression	ISO	Diaph1 (Mus musculus)	6480464	Tungsten results in decreased expression of DIAP1 mRNA	CTD	PMID:30912803
DIAPH1	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of DIAPH1 mRNA	CTD	PMID:23179753
DIAPH1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of DIAPH1 mRNA	CTD	PMID:25979313
DIAPH1	Human	vinclozolin	decreases expression	ISO	Diaph1 (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of DIAPH1 mRNA	CTD	PMID:23034163
DIAPH1	Human	zinc atom	increases expression	EXP		6480464	Zinc deficiency results in increased expression of DIAPH1 mRNA	CTD	PMID:18356318
DIAPH1	Human	zinc(0)	increases expression	EXP		6480464	Zinc deficiency results in increased expression of DIAPH1 mRNA	CTD	PMID:18356318

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)
DIAPH1	Human	actin cytoskeleton organization	acts_upstream_of_or_within	ISO	Diaph1 (Mus musculus)	9068941	PMID:9214622	MGI	PMID:9214622
DIAPH1	Human	actin cytoskeleton organization	involved_in	ISS	UniProtKB:O08808	150520179		UniProt	GO_REF:0000024
DIAPH1	Human	actin cytoskeleton organization	involved_in	IEA	InterPro:IPR010473	150520179		InterPro	GO_REF:0000002
DIAPH1	Human	actin filament polymerization	involved_in	ISS	UniProtKB:O08808	150520179		UniProt	GO_REF:0000024
DIAPH1	Human	actin filament polymerization	acts_upstream_of_or_within	ISO	Diaph1 (Mus musculus)	9068941	PMID:14992721	MGI	PMID:14992721
DIAPH1	Human	actin filament polymerization	involved_in	IBA	MGI:1194490 more ...	150520179		GO_Central	GO_REF:0000033
DIAPH1	Human	actin nucleation	acts_upstream_of_or_within	ISO	Diaph1 (Mus musculus)	9068941	PMID:21278336	MGI	PMID:21278336
DIAPH1	Human	axon midline choice point recognition	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Human	brain development	involved_in	ISO	Diaph1 (Mus musculus)	9068941	PMID:24781755	UniProt	PMID:24781755
DIAPH1	Human	cellular response to histamine	involved_in	IMP		150520179	PMID:15123714	BHF-UCL	PMID:15123714
DIAPH1	Human	cytoskeleton organization	involved_in	ISS	UniProtKB:O08808	150520179		UniProt	GO_REF:0000024
DIAPH1	Human	cytoskeleton organization	involved_in	IMP		150520179	PMID:21834987	UniProt	PMID:21834987
DIAPH1	Human	ephrin receptor signaling pathway	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Human	gene expression	acts_upstream_of_or_within	ISO	Diaph1 (Mus musculus)	9068941	PMID:21278336	MGI	PMID:21278336
DIAPH1	Human	multicellular organismal locomotion	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Human	negative regulation of neuron projection regeneration	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Human	neuron projection development	involved_in	ISO	Diaph1 (Mus musculus)	9068941	PMID:18572016	UniProt	PMID:18572016
DIAPH1	Human	neuron projection retraction	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Human	positive regulation of cell migration		ISO	Diaph1 (Rattus norvegicus)	9068941		RGD	PMID:16943426 and REF_RGD_ID:1601059
DIAPH1	Human	protein localization	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Human	protein localization to microtubule	involved_in	IMP		150520179	PMID:15123714	BHF-UCL	PMID:15123714
DIAPH1	Human	regulation of cell shape	involved_in	IMP		150520179	PMID:21834987	UniProt	PMID:21834987
DIAPH1	Human	regulation of cytoskeleton organization	involved_in	IMP		150520179	PMID:26912466	UniProt	PMID:26912466
DIAPH1	Human	regulation of microtubule-based process	involved_in	IMP		150520179	PMID:20937854	UniProt	PMID:20937854
DIAPH1	Human	regulation of release of sequestered calcium ion into cytosol	involved_in	IMP		150520179	PMID:15123714	BHF-UCL	PMID:15123714
DIAPH1	Human	sensory perception of sound	involved_in	IEA	UniProtKB-KW:KW-1009	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	sensory perception of sound	involved_in	TAS		150520179	PMID:9360932	PINC	PMID:9360932
DIAPH1	Human	synaptic vesicle endocytosis	involved_in	ISO	Diaph1 (Mus musculus)	9068941	PMID:28231467	SynGO	PMID:28231467

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)
DIAPH1	Human	actin filament	is_active_in	IBA	MGI:1927222 more ...	150520179		GO_Central	GO_REF:0000033
DIAPH1	Human	brush border	located_in	ISO	Diaph1 (Mus musculus)	9068941	PMID:22114352	UniProt	PMID:22114352
DIAPH1	Human	cell projection	located_in	IEA	UniProtKB-KW:KW-0966	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	centrosome	located_in	IEA	UniProtKB-SubCell:SL-0048	150520179		UniProt	GO_REF:0000044
DIAPH1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	cytoplasm	located_in	ISS	UniProtKB:O08808	150520179		UniProt	GO_REF:0000024
DIAPH1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
DIAPH1	Human	cytoskeleton	located_in	IEA	UniProtKB-SubCell:SL-0090	150520179		UniProt	GO_REF:0000044
DIAPH1	Human	cytoskeleton	located_in	IEA	UniProtKB-KW:KW-0206	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-5665982 more ...
DIAPH1	Human	ficolin-1-rich granule membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6800426
DIAPH1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	microtubule cytoskeleton	located_in	ISO	DIAPH1 (Sus scrofa)	9068941	PMID:15123714	BHF-UCL	PMID:15123714
DIAPH1	Human	mitotic spindle	located_in	IDA		150520179	PMID:15123714	BHF-UCL	PMID:15123714
DIAPH1	Human	neuron projection	located_in	ISO	Diaph1 (Mus musculus)	9068941	PMID:18572016	UniProt	PMID:18572016
DIAPH1	Human	nucleus	located_in	ISS	UniProtKB:O08808	150520179		UniProt	GO_REF:0000024
DIAPH1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
DIAPH1	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
DIAPH1	Human	plasma membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6798743 and Reactome:R-HSA-6800426
DIAPH1	Human	ruffle membrane	located_in	IEA	UniProtKB-SubCell:SL-0301	150520179		UniProt	GO_REF:0000044
DIAPH1	Human	secretory granule membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6798743
DIAPH1	Human	spindle	located_in	IEA	UniProtKB-SubCell:SL-0251	150520179		UniProt	GO_REF:0000044
DIAPH1	Human	spindle microtubule	located_in	ISO	DIAPH1 (Sus scrofa)	9068941	PMID:15123714	BHF-UCL	PMID:15123714

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)
DIAPH1	Human	actin binding	enables	IEA	UniProtKB-KW:KW-0009	150520179		UniProt	GO_REF:0000043
DIAPH1	Human	actin binding	enables	IEA	InterPro:IPR010472 and InterPro:IPR010473	150520179		InterPro	GO_REF:0000002
DIAPH1	Human	identical protein binding	enables	ISO	UniProtKB:O08808	9068941	PMID:10559899 more ...	IntAct	PMID:10559899 more ...
DIAPH1	Human	profilin binding	enables	ISO	Diaph1 (Mus musculus)	9068941	PMID:9214622	MGI	PMID:9214622
DIAPH1	Human	protein binding	enables	IPI	UniProtKB:Q9Q2G4	150520179	PMID:22190034	IntAct	PMID:22190034
DIAPH1	Human	protein binding	enables	IPI	UniProtKB:P49593	150520179	PMID:18230650	IntAct	PMID:18230650
DIAPH1	Human	protein binding	enables	IPI	UniProtKB:Q15109	150520179	PMID:18922799	IntAct	PMID:18922799
DIAPH1	Human	protein binding	enables	IPI	UniProtKB:O00212 more ...	150520179	PMID:18218625	IntAct	PMID:18218625
DIAPH1	Human	protein binding	enables	IPI	UniProtKB:O00212 and UniProtKB:P08134	150520179	PMID:33961781	IntAct	PMID:33961781
DIAPH1	Human	RNA binding	enables	HDA		150520179	PMID:22658674	UniProt	PMID:22658674
DIAPH1	Human	signaling receptor binding	enables	NAS		150520179	PMID:9360932	PINC	PMID:9360932
DIAPH1	Human	small GTPase binding	enables	IEA	InterPro:IPR010473	150520179		InterPro	GO_REF:0000002
DIAPH1	Human	transmembrane transporter binding	enables	IPI	UniProtKB:Q13563	150520179	PMID:15123714	BHF-UCL	PMID:15123714

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	Shigella infection pathway		IEA		6907045		KEGG	hsa:05131

Imported Annotations - PID (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	E-cadherin signaling pathway		EXP		6484113		PID	PID:200182

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	Abnormal cerebral vascular morphology		IAGP		8699517		HPO	ORPHA:2573
DIAPH1	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:616632 and PMID:24781755
DIAPH1	Human	B-cell lymphoma		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Brain atrophy		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Bronchiectasis		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Bronchiectasis		IAGP		8699517		HPO	MIM:616632 and PMID:26463574
DIAPH1	Human	Cerebral visual impairment		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Cerebral visual impairment		IAGP		8699517		HPO	MIM:616632 and PMID:24781755
DIAPH1	Human	Childhood onset		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Combined immunodeficiency		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Decreased body weight		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Decreased proportion of CD4-positive T cells		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Delayed puberty		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Enamel hypomineralization		IAGP		8699517		HPO	ORPHA:494444
DIAPH1	Human	Failure to thrive in infancy		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Global developmental delay		IAGP		8699517		HPO	MIM:616632 and PMID:24781755
DIAPH1	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Growth delay		IAGP		8699517		HPO	MIM:616632 and PMID:24781755
DIAPH1	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	MIM:616632 and PMID:24781755
DIAPH1	Human	Hypoplastic optic chiasm		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Hypotonia		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Hypotonia		IAGP		8699517		HPO	MIM:616632 and PMID:26463574
DIAPH1	Human	Impaired platelet aggregation		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Increased mean platelet volume		IAGP		8699517		HPO	ORPHA:494444
DIAPH1	Human	Infantile onset		IAGP		8699517		HPO	MIM:616632 more ...
DIAPH1	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:2573
DIAPH1	Human	Intellectual disability, profound		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Iron deficiency anemia		IAGP		8699517		HPO	ORPHA:494444
DIAPH1	Human	Juvenile onset		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Lymphoma		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Macrothrombocytopenia		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Menorrhagia		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Metopic synostosis		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Microcephaly		IAGP		8699517		HPO	MIM:616632 more ...
DIAPH1	Human	Neonatal onset		IAGP		8699517		HPO	MIM:616632 and PMID:26463574
DIAPH1	Human	Neutropenia		IAGP		8699517		HPO	ORPHA:494444
DIAPH1	Human	Optic atrophy		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Optic atrophy		IAGP		8699517		HPO	MIM:616632 and PMID:26463574
DIAPH1	Human	Poor speech		IAGP		8699517		HPO	MIM:616632 and PMID:26463574
DIAPH1	Human	Post-partum hemorrhage		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Progressive microcephaly		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Progressive sensorineural hearing impairment		IAGP		8699517		HPO	ORPHA:494444
DIAPH1	Human	Recurrent infections		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Seizure		IAGP		8699517		HPO	MIM:616632 more ...
DIAPH1	Human	Seizure		IAGP		8699517		HPO	ORPHA:2573
DIAPH1	Human	Seizure		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Sensorineural hearing impairment		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Short stature		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Short stature		IAGP		8699517		HPO	MIM:616632 more ...
DIAPH1	Human	Skeletal muscle atrophy		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Telangiectasia		IAGP		8699517		HPO	ORPHA:2573
DIAPH1	Human	Thin corpus callosum		IAGP		8699517		HPO	ORPHA:477814
DIAPH1	Human	Thrombocytopenia		IAGP		8699517		HPO	ORPHA:494444
DIAPH1	Human	Thrombocytopenia		IAGP		8699517		HPO	MIM:124900 and PMID:26912466
DIAPH1	Human	Ventriculomegaly		IAGP		8699517		HPO	ORPHA:2573

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Human	Failure to thrive		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Failure to thrive	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Global developmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:30311386
DIAPH1	Human	Hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness	ClinVar	PMID:25741868 and PMID:26463574
DIAPH1	Human	Hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:28492532 and PMID:30311386
DIAPH1	Human	Hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:32581362
DIAPH1	Human	Microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:24781755 more ...
DIAPH1	Human	Microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25741868 more ...
DIAPH1	Human	Neonatal seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neonatal seizure	ClinVar
DIAPH1	Human	Neonatal seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neonatal seizure	ClinVar
DIAPH1	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epilepsy	ClinVar	PMID:24781755 more ...

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.	Lynch ED, etal., Science. 1997 Nov 14;278(5341):1315-8.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
5.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1350680	PMID:7737110	PMID:8619474	PMID:9110174	PMID:10814512	PMID:11171383	PMID:11590143	PMID:11992112	PMID:12065429	PMID:12324464	PMID:12477932	PMID:12665801
PMID:12773565	PMID:12847276	PMID:14592989	PMID:14702039	PMID:15085137	PMID:15096506	PMID:15123714	PMID:15231748	PMID:15864301	PMID:16055720	PMID:16109481	PMID:16344560
PMID:16887337	PMID:17182868	PMID:17301291	PMID:17940061	PMID:18194650	PMID:18218625	PMID:18230650	PMID:18922799	PMID:18955552	PMID:19041431	PMID:19102128	PMID:19158278
PMID:19160018	PMID:19240061	PMID:19470376	PMID:19738201	PMID:19913427	PMID:20030946	PMID:20071339	PMID:20223827	PMID:20301607	PMID:20467437	PMID:20591975	PMID:20937854
PMID:21680709	PMID:21706016	PMID:21834987	PMID:21873635	PMID:22179776	PMID:22190034	PMID:22194616	PMID:22266902	PMID:22454521	PMID:22658674	PMID:22863883	PMID:22939629
PMID:22944692	PMID:23325789	PMID:24105619	PMID:24126053	PMID:24317603	PMID:24403606	PMID:24550385	PMID:24639526	PMID:24781755	PMID:24891322	PMID:24950964	PMID:25281560
PMID:25298036	PMID:25458010	PMID:25670202	PMID:25921289	PMID:26124177	PMID:26186194	PMID:26201082	PMID:26344197	PMID:26349808	PMID:26463574	PMID:26496610	PMID:26564775
PMID:26566078	PMID:26831064	PMID:26893363	PMID:26912466	PMID:27177153	PMID:27524199	PMID:27684187	PMID:27705803	PMID:27707755	PMID:27808407	PMID:27911711	PMID:27956147
PMID:27967251	PMID:28003573	PMID:28329679	PMID:28378594	PMID:28514442	PMID:28515276	PMID:28524877	PMID:28581483	PMID:28751768	PMID:28760985	PMID:28815995	PMID:28827448
PMID:28982779	PMID:29035824	PMID:29117863	PMID:29239839	PMID:29467282	PMID:29490301	PMID:29507755	PMID:29509190	PMID:29568061	PMID:29669786	PMID:29966194	PMID:30021884
PMID:30309655	PMID:30401627	PMID:30463901	PMID:30550556	PMID:30575818	PMID:30733838	PMID:30816115	PMID:30890647	PMID:30948266	PMID:31019238	PMID:31165762	PMID:31240132
PMID:31324722	PMID:31343991	PMID:31473629	PMID:31478661	PMID:31617661	PMID:31753913	PMID:31797667	PMID:31871319	PMID:31899686	PMID:31911947	PMID:32005666	PMID:32087478
PMID:32248974	PMID:32304339	PMID:32416067	PMID:32513696	PMID:32678080	PMID:32683844	PMID:33022573	PMID:33124112	PMID:33239621	PMID:33545068	PMID:33662367	PMID:33689956
PMID:33961781	PMID:33999101	PMID:34079125	PMID:34125151	PMID:34279089	PMID:34349018	PMID:34535262	PMID:34672954	PMID:34781738	PMID:34822025	PMID:34968485	PMID:35016035
PMID:35185386	PMID:35241646	PMID:35256949	PMID:35271311	PMID:35439318	PMID:35446349	PMID:35819319	PMID:35831314	PMID:35944360	PMID:36114006	PMID:36215168	PMID:36282215
PMID:36448548	PMID:36629882	PMID:37070486	PMID:37071682	PMID:37400591	PMID:37543941	PMID:37827155	PMID:37832872	PMID:37848033	PMID:37903764	PMID:38113892	PMID:38580884
PMID:38843827	PMID:39120629	PMID:39358380

DIAPH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	141,515,021 - 141,619,000 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,515,016 - 141,619,055 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,894,588 - 140,998,567 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,874,772 - 140,978,747 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,874,772 - 140,978,691	NCBI
Celera	5	136,971,324 - 137,075,350 (-)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	136,039,428 - 136,143,262 (-)	NCBI		HuRef
CHM1_1	5	140,327,865 - 140,431,904 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	142,041,005 - 142,145,005 (-)	NCBI		T2T-CHM13v2.0

Diaph1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	37,976,654 - 38,068,573 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	37,976,654 - 38,068,529 (-)	Ensembl		GRCm39 Ensembl
GRCm38	18	37,843,601 - 37,935,622 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	37,843,601 - 37,935,476 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	38,004,478 - 38,095,065 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	37,970,798 - 38,061,385 (-)	NCBI		MGSCv36	mm8
Celera	18	39,188,303 - 39,278,736 (-)	NCBI		Celera
Cytogenetic Map	18	B3	NCBI
cM Map	18	19.71	NCBI

Diaph1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	29,920,889 - 30,020,280 (-)	NCBI		GRCr8
mRatBN7.2	18	29,669,659 - 29,769,070 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	29,669,659 - 29,769,172 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	29,773,984 - 29,873,376 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	30,535,964 - 30,635,353 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	29,871,305 - 29,970,698 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	30,972,907 - 31,071,371 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	30,972,907 - 31,071,371 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	30,663,859 - 30,762,658 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	30,757,191 - 30,855,548 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	30,784,366 - 30,882,101 (-)	NCBI
Celera	18	29,313,748 - 29,412,995 (-)	NCBI		Celera
Cytogenetic Map	18	p11	NCBI

Diaph1
(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_004955415	12,156,152 - 12,272,961 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955415	12,156,152 - 12,272,961 (+)	NCBI	ChiLan1.0	ChiLan1.0

DIAPH1
(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	4	136,764,381 - 136,867,993 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	134,960,673 - 135,007,628 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	136,876,396 - 136,980,097 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	142,990,248 - 143,092,558 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

DIAPH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	36,483,781 - 36,581,390 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	36,485,571 - 36,581,320 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	33,535,791 - 33,633,355 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	36,937,687 - 37,035,539 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	36,937,690 - 37,035,611 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	34,012,555 - 34,110,155 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	34,824,079 - 34,921,683 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	35,631,288 - 35,728,900 (-)	NCBI		UU_Cfam_GSD_1.0

Diaph1
(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_024407213	150,974,209 - 151,071,265 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936504	12,548,452 - 12,643,399 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936504	12,548,452 - 12,645,236 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DIAPH1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	143,158,585 - 143,271,147 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	143,158,691 - 143,271,110 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	149,363,162 - 149,473,567 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DIAPH1
(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	23	44,139,495 - 44,244,505 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	44,139,360 - 44,244,490 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	33,608,326 - 33,713,597 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Diaph1
(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_004624774	739,206 - 845,272 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624774	738,717 - 845,187 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in DIAPH1
1515 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000546849]\|not provided [RCV003480691]	Chr5:141573751 [GRCh38] Chr5:140953318 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000549611]	Chr5:141528717 [GRCh38] Chr5:140908284 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000554102]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157174]\|not provided [RCV001562152]\|not specified [RCV001195316]	Chr5:141573865 [GRCh38] Chr5:140953432 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.118-9G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000547762]	Chr5:141588259 [GRCh38] Chr5:140967826 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000526185]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001420579]	Chr5:141577486 [GRCh38] Chr5:140957053 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000524722]\|not provided [RCV001548203]\|not specified [RCV001195574]	Chr5:141574191 [GRCh38] Chr5:140953758 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000548020]	Chr5:141516969 [GRCh38] Chr5:140896536 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3574+6G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001043216]\|not specified [RCV000602632]	Chr5:141526032 [GRCh38] Chr5:140905599 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000546409]	Chr5:141528843 [GRCh38] Chr5:140908410 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652763]\|Inborn genetic diseases [RCV002525173]\|not provided [RCV001722443]\|not specified [RCV000519502]	Chr5:141573692 [GRCh38] Chr5:140953259 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2778+10G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000531091]	Chr5:141529162 [GRCh38] Chr5:140908729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.4(DIAPH1):c.3439-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000548821]\|not specified [RCV000825326]	Chr5:141526176 [GRCh38] Chr5:140905743 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000542384]\|DIAPH1-related disorder [RCV003962604]\|not provided [RCV003736815]	Chr5:141516995 [GRCh38] Chr5:140896562 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000290333]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001515786]\|not provided [RCV001636625]\|not specified [RCV000038367]	Chr5:141618784 [GRCh38] Chr5:140998351 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1397-14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002054697]\|not specified [RCV000038368]	Chr5:141576308 [GRCh38] Chr5:140955875 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000898577]\|not provided [RCV004704827]\|not specified [RCV000038369]	Chr5:141528505 [GRCh38] Chr5:140908072 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000328272]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000527069]\|not provided [RCV000991922]\|not specified [RCV000038370]	Chr5:141524225 [GRCh38] Chr5:140903792 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001087303]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155599]\|not provided [RCV000827061]\|not specified [RCV000038371]	Chr5:141580881 [GRCh38] Chr5:140960448 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	copy number gain	See cases [RCV000051193]	Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2	pathogenic
NM_005219.5(DIAPH1):c.3661+1G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000007963]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001851727]	Chr5:141524142 [GRCh38] Chr5:140903709 [GRCh37] Chr5:5q31.3	pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	copy number loss	See cases [RCV000052142]	Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32	pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001051173]	Chr5:141529682 [GRCh38] Chr5:140909249 [GRCh37] Chr5:140889433 [NCBI36] Chr5:5q31.3	uncertain significance\|not provided
NM_005219.4(DIAPH1):c.1853_1854insTCC (p.Pro620_Leu621insPro)	insertion	not specified [RCV000175060]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000488304]	Chr5:141524179..141524180 [GRCh38] Chr5:140903746..140903747 [GRCh37] Chr5:5q31.3	pathogenic
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	copy number loss	See cases [RCV000136949]	Chr5:140963199..142322798 [GRCh38] Chr5:140453735..141702363 [GRCh37] Chr5:140322968..141682547 [NCBI36] Chr5:5q31.3	uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	copy number gain	See cases [RCV000138808]	Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	copy number gain	See cases [RCV000139504]	Chr5:141089988..149530678 [GRCh38] Chr5:140469572..148910241 [GRCh37] Chr5:140449756..148890434 [NCBI36] Chr5:5q31.3-32	pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3	copy number gain	See cases [RCV000142806]	Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3	uncertain significance
NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209492]\|not specified [RCV000155769]	Chr5:141534391 [GRCh38] Chr5:140913958 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001506631]\|not provided [RCV004597753]\|not specified [RCV000155937]	Chr5:141526375 [GRCh38] Chr5:140905942 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000939046]\|DIAPH1-related disorder [RCV004752755]\|not specified [RCV000150401]	Chr5:141528547 [GRCh38] Chr5:140908114 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000269313]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003764908]\|not specified [RCV000150402]	Chr5:141529607 [GRCh38] Chr5:140909174 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000365633]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002055960]\|DIAPH1-related disorder [RCV003895035]\|not specified [RCV000150404]	Chr5:141575085 [GRCh38] Chr5:140954652 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance\|not provided
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003764909]\|not specified [RCV000150406]	Chr5:141580785 [GRCh38] Chr5:140960352 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-7T>C	single nucleotide variant	not specified [RCV000150407]	Chr5:141582382 [GRCh38] Chr5:140961949 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+12del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001518563]\|Nonsyndromic Hearing Loss, Mixed [RCV000279906]\|not provided [RCV003430713]\|not specified [RCV000150408]	Chr5:141584112 [GRCh38] Chr5:140963679 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003764910]\|not specified [RCV000150410]	Chr5:141588240 [GRCh38] Chr5:140967807 [GRCh37] Chr5:5q31.3	uncertain significance\|not provided
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154656]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001393091]\|not specified [RCV000156180]	Chr5:141528502 [GRCh38] Chr5:140908069 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3662-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002056116]\|not specified [RCV000156188]	Chr5:141517022 [GRCh38] Chr5:140896589 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003764970]\|not specified [RCV000156386]	Chr5:141582361 [GRCh38] Chr5:140961928 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000802483]\|not provided [RCV000726655]\|not specified [RCV000150400]	Chr5:141527616 [GRCh38] Chr5:140907183 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000333747]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000557145]\|not provided [RCV001753531]\|not specified [RCV000150403]	Chr5:141534391 [GRCh38] Chr5:140913958 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652771]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV004584612]\|DIAPH1-related disorder [RCV003398797]\|not specified [RCV000150405]	Chr5:141576788 [GRCh38] Chr5:140956355 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000316277]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000541586]\|not provided [RCV000991924]\|not specified [RCV000150409]	Chr5:141584136 [GRCh38] Chr5:140963703 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000694570]\|Inborn genetic diseases [RCV002516119]\|not provided [RCV002464130]\|not specified [RCV000155084]	Chr5:141528551 [GRCh38] Chr5:140908118 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001850124]\|not specified [RCV000155085]	Chr5:141528796 [GRCh38] Chr5:140908363 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000530079]\|DIAPH1-related disorder [RCV003937461]\|not provided [RCV001698660]\|not specified [RCV000155358]	Chr5:141579130 [GRCh38] Chr5:140958697 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000273144]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000526286]\|not specified [RCV000155359]	Chr5:141516905 [GRCh38] Chr5:140896472 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003984821]\|Epilepsy [RCV000162177]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201793]	Chr5:141573518 [GRCh38] Chr5:140953085 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000380141]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001855165]\|Inborn genetic diseases [RCV002519210]\|not provided [RCV000319218]	Chr5:141584183 [GRCh38] Chr5:140963750 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.685-5A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652779]\|not provided [RCV001722166]\|not specified [RCV000219566]	Chr5:141580888 [GRCh38] Chr5:140960455 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000600201]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001522464]\|not provided [RCV001538893]\|not specified [RCV000223617]	Chr5:141573997..141573999 [GRCh38] Chr5:140953564..140953566 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003765365]\|not specified [RCV000215354]	Chr5:141572026 [GRCh38] Chr5:140951593 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003765364]\|not specified [RCV000217370]	Chr5:141573783 [GRCh38] Chr5:140953350 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000398170]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001086322]\|DIAPH1-related disorder [RCV003907804]\|not provided [RCV000725896]\|not specified [RCV000214076]	Chr5:141574081 [GRCh38] Chr5:140953648 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001409920]\|not provided [RCV000534862]\|not specified [RCV000218309]	Chr5:141528831 [GRCh38] Chr5:140908398 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000488049]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002519628]\|Rare genetic deafness [RCV000216048]\|not provided [RCV000733671]	Chr5:141524167 [GRCh38] Chr5:140903734 [GRCh37] Chr5:5q31.3	pathogenic\|uncertain significance
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001853443]\|not specified [RCV000221090]	Chr5:141516966 [GRCh38] Chr5:140896533 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003765388]\|not specified [RCV000222991]	Chr5:141526086 [GRCh38] Chr5:140905653 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000543790]\|not provided [RCV000514338]\|not specified [RCV000216693]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000382860]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000560299]\|not provided [RCV001722143]\|not specified [RCV000219055]	Chr5:141527619 [GRCh38] Chr5:140907186 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000806173]\|Inborn genetic diseases [RCV002517539]\|not provided [RCV001723797]\|not specified [RCV000219307]	Chr5:141573743 [GRCh38] Chr5:140953310 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2358+15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001400142]\|not specified [RCV000221668]	Chr5:141573477 [GRCh38] Chr5:140953044 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000307634]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000540475]\|not provided [RCV001683161]\|not specified [RCV000280471]	Chr5:141576284 [GRCh38] Chr5:140955851 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)	single nucleotide variant	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000625785]	Chr5:141582369 [GRCh38] Chr5:140961936 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005219.5(DIAPH1):c.*1041G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000284447]	Chr5:141515810 [GRCh38] Chr5:140895377 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.301-5C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000285720]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001404213]\|DIAPH1-related disorder [RCV003970020]\|Inborn genetic diseases [RCV002520328]	Chr5:141584230 [GRCh38] Chr5:140963797 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000281485]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652776]\|DIAPH1-related disorder [RCV003970019]\|Inborn genetic diseases [RCV002520326]\|not provided [RCV001613157]	Chr5:141573818 [GRCh38] Chr5:140953385 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000271037]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001081233]\|not provided [RCV000437504]\|not specified [RCV000612807]	Chr5:141576268 [GRCh38] Chr5:140955835 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
NM_005219.5(DIAPH1):c.1461+20G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001517682]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001660272]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001660273]\|not provided [RCV001668510]\|not specified [RCV000247529]	Chr5:141576210 [GRCh38] Chr5:140955777 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000277146]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002058511]	Chr5:141578281 [GRCh38] Chr5:140957848 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.124_126del	deletion	Nonsyndromic Hearing Loss, Mixed [RCV000267697]	Chr5:141516725..141516727 [GRCh38] Chr5:140896292..140896294 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+8C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000374126]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002523510]	Chr5:141583198 [GRCh38] Chr5:140962765 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1607C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000314582]	Chr5:141515244 [GRCh38] Chr5:140894811 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.-28G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000314756]	Chr5:141618942 [GRCh38] Chr5:140998509 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*217C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000353039]\|not provided [RCV004707127]	Chr5:141516634 [GRCh38] Chr5:140896201 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000375883]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652769]\|Inborn genetic diseases [RCV003372691]	Chr5:141573688 [GRCh38] Chr5:140953255 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000398178]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652768]	Chr5:141573886 [GRCh38] Chr5:140953453 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1557C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000400731]	Chr5:141515294 [GRCh38] Chr5:140894861 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000301637]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001861250]	Chr5:141574106 [GRCh38] Chr5:140953673 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000336345]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061256]	Chr5:141573839 [GRCh38] Chr5:140953406 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*1304A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000378904]	Chr5:141515547 [GRCh38] Chr5:140895114 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*367C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000337792]\|not provided [RCV003430898]	Chr5:141516484 [GRCh38] Chr5:140896051 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1703AG[6]	microsatellite	Nonsyndromic Hearing Loss, Mixed [RCV000402540]	Chr5:141515133..141515136 [GRCh38] Chr5:140894700..140894703 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000403149]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000966695]\|DIAPH1-related disorder [RCV003957817]\|not provided [RCV001683397]\|not specified [RCV000825747]	Chr5:141587142 [GRCh38] Chr5:140966709 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*39G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000303626]	Chr5:141516812 [GRCh38] Chr5:140896379 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000319451]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001498389]\|DIAPH1-related disorder [RCV003897794]\|not provided [RCV003430899]	Chr5:141582369 [GRCh38] Chr5:140961936 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000358374]\|not provided [RCV004705378]	Chr5:141516835 [GRCh38] Chr5:140896402 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*734C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000381084]	Chr5:141516117 [GRCh38] Chr5:140895684 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*933T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000290126]	Chr5:141515918 [GRCh38] Chr5:140895485 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.300+12A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000339439]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061258]	Chr5:141587030 [GRCh38] Chr5:140966597 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1347C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000360293]	Chr5:141515504 [GRCh38] Chr5:140895071 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*1364T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000321874]	Chr5:141515487 [GRCh38] Chr5:140895054 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*1597G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000362325]	Chr5:141515254 [GRCh38] Chr5:140894821 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000555012]\|Nonsyndromic Hearing Loss, Mixed [RCV000342257]\|not provided [RCV001653685]\|not specified [RCV000607182]	Chr5:141573997..141574002 [GRCh38] Chr5:140953564..140953569 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002520327]\|Nonsyndromic Hearing Loss, Mixed [RCV000362370]	Chr5:141576865 [GRCh38] Chr5:140956432 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000386769]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061257]	Chr5:141579139 [GRCh38] Chr5:140958706 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1322C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000324347]	Chr5:141515529 [GRCh38] Chr5:140895096 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*755T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000345075]	Chr5:141516096 [GRCh38] Chr5:140895663 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.-22G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000345272]\|DIAPH1-related disorder [RCV003950245]\|not specified [RCV000600203]	Chr5:141618936 [GRCh38] Chr5:140998503 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000388207]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001219655]\|Inborn genetic diseases [RCV002520325]\|not specified [RCV000602949]	Chr5:141573517 [GRCh38] Chr5:140953084 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000294388]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001861249]\|not provided [RCV001778935]	Chr5:141573577 [GRCh38] Chr5:140953144 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*709C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000296058]	Chr5:141516142 [GRCh38] Chr5:140895709 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.-49A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000369495]\|not provided [RCV001558563]	Chr5:141618963 [GRCh38] Chr5:140998530 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*618G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000393373]	Chr5:141516233 [GRCh38] Chr5:140895800 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*254G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000393384]	Chr5:141516597 [GRCh38] Chr5:140896164 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000349361]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001051616]\|not provided [RCV005222902]\|not specified [RCV000607967]	Chr5:141573650 [GRCh38] Chr5:140953217 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1637G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000349699]	Chr5:141515214 [GRCh38] Chr5:140894781 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*236T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000298265]	Chr5:141516615 [GRCh38] Chr5:140896182 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-27G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000396294]	Chr5:141618941 [GRCh38] Chr5:140998508 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1622TCC[1]	microsatellite	Nonsyndromic Hearing Loss, Mixed [RCV000396367]	Chr5:141515224..141515226 [GRCh38] Chr5:140894791..140894793 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*1337C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000259835]	Chr5:141515514 [GRCh38] Chr5:140895081 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001859700]\|not provided [RCV000307219]	Chr5:141574081 [GRCh38] Chr5:140953648 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.4(DIAPH1):c.1853_1854insTCCTCC (p.Pro620_Leu621insProPro)	insertion	not provided [RCV000421714]\|not specified [RCV000279070]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000273675]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003766026]	Chr5:141580779 [GRCh38] Chr5:140960346 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1765_1766dup	duplication	Nonsyndromic Hearing Loss, Mixed [RCV000336785]\|not provided [RCV003430897]	Chr5:141515084..141515085 [GRCh38] Chr5:140894651..140894652 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001317659]\|Inborn genetic diseases [RCV004021227]\|not provided [RCV000353082]	Chr5:141528818 [GRCh38] Chr5:140908385 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1395C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000264331]	Chr5:141515456 [GRCh38] Chr5:140895023 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*932dup	duplication	Nonsyndromic Hearing Loss, Mixed [RCV000384603]\|not provided [RCV004695835]	Chr5:141515918..141515919 [GRCh38] Chr5:140895485..140895486 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002518829]\|not provided [RCV000358511]	Chr5:141574142 [GRCh38] Chr5:140953709 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002518150]\|not provided [RCV000395602]	Chr5:141576865 [GRCh38] Chr5:140956432 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001338436]\|Inborn genetic diseases [RCV002521950]\|not provided [RCV000361855]	Chr5:141574066 [GRCh38] Chr5:140953633 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003336517]\|not provided [RCV002283119]	Chr5:141574115 [GRCh38] Chr5:140953682 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-87G>A	single nucleotide variant	not provided [RCV001547314]	Chr5:141534520 [GRCh38] Chr5:140914087 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*1654C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000292152]	Chr5:141515197 [GRCh38] Chr5:140894764 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.934-3T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000332129]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV005222903]	Chr5:141578628 [GRCh38] Chr5:140958195 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000306053]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001322038]	Chr5:141573907 [GRCh38] Chr5:140953474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1444T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000365974]	Chr5:141515407 [GRCh38] Chr5:140894974 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*701T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000350737]	Chr5:141516150 [GRCh38] Chr5:140895717 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003767321]\|Hearing impairment [RCV001375058]\|not provided [RCV000584874]	Chr5:141527577..141527578 [GRCh38] Chr5:140907144..140907145 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005219.5(DIAPH1):c.*1006T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000320699]	Chr5:141515845 [GRCh38] Chr5:140895412 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1544A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000308880]	Chr5:141515307 [GRCh38] Chr5:140894874 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*533G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000310961]	Chr5:141516318 [GRCh38] Chr5:140895885 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-85A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000311003]	Chr5:141618999 [GRCh38] Chr5:140998566 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-82G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000396302]	Chr5:141618996 [GRCh38] Chr5:140998563 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.682A>G (p.Lys228Glu)	single nucleotide variant	Inborn genetic diseases [RCV000624740]	Chr5:141582314 [GRCh38] Chr5:140961881 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151712]	Chr5:141574184 [GRCh38] Chr5:140953751 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2905_2906dup (p.Ser970fs)	duplication	not provided [RCV000598609]	Chr5:141528813..141528814 [GRCh38] Chr5:140908380..140908381 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000531978]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV004722916]	Chr5:141573841 [GRCh38] Chr5:140953408 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000806367]	Chr5:141574097 [GRCh38] Chr5:140953664 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-25C>T	single nucleotide variant	not provided [RCV001546071]	Chr5:141571461 [GRCh38] Chr5:140951028 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000820393]\|not provided [RCV004760759]\|not specified [RCV000728424]	Chr5:141573997..141574005 [GRCh38] Chr5:140953564..140953572 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000735749]	Chr5:141573768 [GRCh38] Chr5:140953335 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3432G>A (p.Met1144Ile)	single nucleotide variant	not provided [RCV000731534]	Chr5:141526303 [GRCh38] Chr5:140905870 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002032867]\|Inborn genetic diseases [RCV004980644]\|not provided [RCV001760525]	Chr5:141584174 [GRCh38] Chr5:140963741 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000697895]	Chr5:141527689 [GRCh38] Chr5:140907256 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005219.5(DIAPH1):c.2794C>T (p.Arg932Ter)	single nucleotide variant	not provided [RCV000432418]	Chr5:141528926 [GRCh38] Chr5:140908493 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs)	indel	not provided [RCV000481192]	Chr5:141573878..141573879 [GRCh38] Chr5:140953445..140953446 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.644A>G (p.His215Arg)	single nucleotide variant	not provided [RCV000757154]	Chr5:141582352 [GRCh38] Chr5:140961919 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3614C>T (p.Ala1205Val)	single nucleotide variant	not provided [RCV000485261]	Chr5:141524190 [GRCh38] Chr5:140903757 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002056844]\|DIAPH1-related disorder [RCV003932825]\|not specified [RCV000503269]	Chr5:141528553 [GRCh38] Chr5:140908120 [GRCh37] Chr5:5q31.3	likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV004561496]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005219.5(DIAPH1):c.655C>T (p.Arg219Cys)	single nucleotide variant	not provided [RCV003318121]	Chr5:141582341 [GRCh38] Chr5:140961908 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001854140]\|not specified [RCV000609758]	Chr5:141580754 [GRCh38] Chr5:140960321 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002498908]\|not provided [RCV001722631]	Chr5:141527700 [GRCh38] Chr5:140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000808089]\|Inborn genetic diseases [RCV003243213]\|not provided [RCV002260651]\|not specified [RCV000613351]	Chr5:141528550 [GRCh38] Chr5:140908117 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002065197]\|not specified [RCV000611043]	Chr5:141577601 [GRCh38] Chr5:140957168 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002062152]\|not specified [RCV000611055]	Chr5:141534378 [GRCh38] Chr5:140913945 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1047C>T (p.Asp349=)	single nucleotide variant	not specified [RCV000613969]	Chr5:141578341 [GRCh38] Chr5:140957908 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652761]	Chr5:141526329 [GRCh38] Chr5:140905896 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652762]	Chr5:141516859 [GRCh38] Chr5:140896426 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652764]\|DIAPH1-related disorder [RCV003918078]\|Inborn genetic diseases [RCV004972828]\|not provided [RCV002285390]	Chr5:141574102 [GRCh38] Chr5:140953669 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652767]\|Inborn genetic diseases [RCV004972829]\|not provided [RCV003229853]	Chr5:141516861 [GRCh38] Chr5:140896428 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652770]\|DIAPH1-related disorder [RCV003918079]\|Inborn genetic diseases [RCV004025885]\|not provided [RCV004692047]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652772]	Chr5:141516943 [GRCh38] Chr5:140896510 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652773]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001333372]	Chr5:141529677 [GRCh38] Chr5:140909244 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652774]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155495]\|DIAPH1-related disorder [RCV004752983]\|not provided [RCV001592824]\|not specified [RCV000825744]	Chr5:141573626 [GRCh38] Chr5:140953193 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652775]	Chr5:141578557 [GRCh38] Chr5:140958124 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1653G>C (p.Leu551=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652777]	Chr5:141574197 [GRCh38] Chr5:140953764 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2427T>C (p.Asn809=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652778]	Chr5:141571972 [GRCh38] Chr5:140951539 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652780]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157175]\|DIAPH1-related disorder [RCV003918080]\|not provided [RCV001644734]	Chr5:141573886 [GRCh38] Chr5:140953453 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652782]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155595]\|not provided [RCV001545484]	Chr5:141578590 [GRCh38] Chr5:140958157 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652783]\|DIAPH1-related disorder [RCV004752984]\|not provided [RCV001556136]	Chr5:141573997..141574008 [GRCh38] Chr5:140953564..140953575 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652784]	Chr5:141573845 [GRCh38] Chr5:140953412 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652785]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157272]\|not provided [RCV003432708]	Chr5:141583247 [GRCh38] Chr5:140962814 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652786]	Chr5:141573924 [GRCh38] Chr5:140953491 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652765]\|not specified [RCV001269256]	Chr5:141528504 [GRCh38] Chr5:140908071 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3	copy number gain	See cases [RCV000512526]	Chr5:140676272..140929172 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652766]\|Beta-D-mannosidosis [RCV001375335]\|not provided [RCV000512994]	Chr5:141526422 [GRCh38] Chr5:140905989 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3750G>A (p.Val1250=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790861]	Chr5:141516920 [GRCh38] Chr5:140896487 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000662222]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000662223]	Chr5:141573743 [GRCh38] Chr5:140953310 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	copy number loss	not provided [RCV000682600]	Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3	pathogenic
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000697821]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001151822]\|Inborn genetic diseases [RCV002533501]\|not provided [RCV001536492]	Chr5:141587125 [GRCh38] Chr5:140966692 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000699939]	Chr5:141571975 [GRCh38] Chr5:140951542 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000707166]\|not specified [RCV000825746]	Chr5:141529178 [GRCh38] Chr5:140908745 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1280+3A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000707625]	Chr5:141577472 [GRCh38] Chr5:140957039 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000688907]	Chr5:141580844 [GRCh38] Chr5:140960411 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000689036]\|Inborn genetic diseases [RCV002544839]\|not provided [RCV001653979]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000686307]	Chr5:141573988..141574002 [GRCh38] Chr5:140953555..140953569 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000701741]\|not specified [RCV004017721]	Chr5:141527671 [GRCh38] Chr5:140907238 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000690145]\|not provided [RCV001771946]	Chr5:141587083 [GRCh38] Chr5:140966650 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000693323]	Chr5:141573496 [GRCh38] Chr5:140953063 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000695410]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001154657]\|DIAPH1-related disorder [RCV003945718]	Chr5:141528920 [GRCh38] Chr5:140908487 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000696551]\|Inborn genetic diseases [RCV004026381]\|not provided [RCV003144534]	Chr5:141529611 [GRCh38] Chr5:140909178 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000705891]	Chr5:141574969 [GRCh38] Chr5:140954536 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-30A>G	single nucleotide variant	not provided [RCV001546451]	Chr5:141534463 [GRCh38] Chr5:140914030 [GRCh37] Chr5:5q31.3	likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005219.5(DIAPH1):c.3149-1G>T	single nucleotide variant	not provided [RCV001571585]	Chr5:141527698 [GRCh38] Chr5:140907265 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001467196]	Chr5:141516980 [GRCh38] Chr5:140896547 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+291A>G	single nucleotide variant	not provided [RCV001583619]	Chr5:141525747 [GRCh38] Chr5:140905314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+176C>T	single nucleotide variant	not provided [RCV001576662]	Chr5:141583030 [GRCh38] Chr5:140962597 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*5G>T	single nucleotide variant	not provided [RCV001544864]	Chr5:141516846 [GRCh38] Chr5:140896413 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+169A>G	single nucleotide variant	not provided [RCV001551222]	Chr5:141583037 [GRCh38] Chr5:140962604 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+178T>C	single nucleotide variant	not provided [RCV001570446]	Chr5:141528275 [GRCh38] Chr5:140907842 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+48G>C	single nucleotide variant	not provided [RCV001552010]	Chr5:141583158 [GRCh38] Chr5:140962725 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+44A>G	single nucleotide variant	not provided [RCV001566931]	Chr5:141583162 [GRCh38] Chr5:140962729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-23dup	duplication	not provided [RCV001552126]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000950331]\|not provided [RCV001551211]	Chr5:141526149 [GRCh38] Chr5:140905716 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001431973]	Chr5:141528475 [GRCh38] Chr5:140908042 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-14CTT[2]	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000951183]\|not provided [RCV001785747]	Chr5:141576300..141576302 [GRCh38] Chr5:140955867..140955869 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.810G>A (p.Pro270=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000964686]	Chr5:141580758 [GRCh38] Chr5:140960325 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+9C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001455539]	Chr5:141571917 [GRCh38] Chr5:140951484 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.99C>T (p.Gly33=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002539328]\|not provided [RCV004777910]	Chr5:141618816 [GRCh38] Chr5:140998383 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2079T>C (p.Pro693=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000924437]	Chr5:141573771 [GRCh38] Chr5:140953338 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001054865]\|Inborn genetic diseases [RCV003160438]\|not provided [RCV005232087]\|not specified [RCV005236569]	Chr5:141573820 [GRCh38] Chr5:140953387 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001059284]\|not provided [RCV001797152]	Chr5:141575007 [GRCh38] Chr5:140954574 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001046910]\|DIAPH1-related disorder [RCV003906157]\|DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome [RCV003325988]\|not provided [RCV001569639]	Chr5:141573887 [GRCh38] Chr5:140953454 [GRCh37] Chr5:5q31.3	uncertain significance\|not provided
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001037667]\|Inborn genetic diseases [RCV002551392]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001057389]	Chr5:141618827 [GRCh38] Chr5:140998394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001060023]	Chr5:141526443 [GRCh38] Chr5:140906010 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001050441]	Chr5:141578315 [GRCh38] Chr5:140957882 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2307del (p.Lys771fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000779464]	Chr5:141573543 [GRCh38] Chr5:140953110 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213408]\|not specified [RCV000825745]	Chr5:141527609 [GRCh38] Chr5:140907176 [GRCh37] Chr5:5q31.3	likely benign
GRCh37/hg19 5q31.3(chr5:140953993-140992629)	copy number loss	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000767834]	Chr5:140953993..140992629 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3149-25_3149-12dup	duplication	DIAPH1-related disorder [RCV003960589]\|not provided [RCV000946883]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-14dup	duplication	not provided [RCV000950136]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1713T>C (p.Thr571=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000928240]	Chr5:141574137 [GRCh38] Chr5:140953704 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3439-5C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001492634]	Chr5:141526178 [GRCh38] Chr5:140905745 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000920506]\|not provided [RCV003432915]	Chr5:141583565 [GRCh38] Chr5:140963132 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.77dup (p.Pro27fs)	duplication	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000984508]	Chr5:141618837..141618838 [GRCh38] Chr5:140998404..140998405 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3019-8T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000941254]	Chr5:141528590 [GRCh38] Chr5:140908157 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000802548]	Chr5:141572034 [GRCh38] Chr5:140951601 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002536134]\|not provided [RCV000841414]	Chr5:141528574 [GRCh38] Chr5:140908141 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000809726]	Chr5:141572034 [GRCh38] Chr5:140951601 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000817713]	Chr5:141583270 [GRCh38] Chr5:140962837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002067419]\|not provided [RCV001595044]\|not specified [RCV000825748]	Chr5:141573996 [GRCh38] Chr5:140953563 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2841C>T (p.Ser947=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000807772]	Chr5:141528879 [GRCh38] Chr5:140908446 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1164-35AT[3]	microsatellite	not provided [RCV000842750]\|not specified [RCV003489937]	Chr5:141577622..141577623 [GRCh38] Chr5:140957189..140957190 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000800292]	Chr5:141526417 [GRCh38] Chr5:140905984 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000812247]	Chr5:141516903 [GRCh38] Chr5:140896470 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000802255]	Chr5:141575043 [GRCh38] Chr5:140954610 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3590G>A (p.Gly1197Asp)	single nucleotide variant	not provided [RCV000991923]	Chr5:141524214 [GRCh38] Chr5:140903781 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000799138]\|not provided [RCV004773156]	Chr5:141576282 [GRCh38] Chr5:140955849 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000806357]	Chr5:141587108 [GRCh38] Chr5:140966675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1460A>G (p.Lys487Arg)	single nucleotide variant	not specified [RCV000825325]	Chr5:141576231 [GRCh38] Chr5:140955798 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000791750]	Chr5:141618871 [GRCh38] Chr5:140998438 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000824306]	Chr5:141573713 [GRCh38] Chr5:140953280 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV000824349]\|not provided [RCV001546501]	Chr5:141573989..141573990 [GRCh38] Chr5:140953556..140953557 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000824535]\|Inborn genetic diseases [RCV002536027]	Chr5:141573991 [GRCh38] Chr5:140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000809869]\|Inborn genetic diseases [RCV003362965]\|not provided [RCV003223678]	Chr5:141529192 [GRCh38] Chr5:140908759 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001067269]	Chr5:141578618 [GRCh38] Chr5:140958185 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3575-50_3661+36inv	inversion	Macrothrombocytopenia [RCV000852260]	Chr5:141524107..141524279 [GRCh38] Chr5:140903674..140903846 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000812521]	Chr5:141528776 [GRCh38] Chr5:140908343 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-24A>G	single nucleotide variant	not provided [RCV000843352]	Chr5:141517032 [GRCh38] Chr5:140896599 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+69C>T	single nucleotide variant	not provided [RCV000843645]	Chr5:141524074 [GRCh38] Chr5:140903641 [GRCh37] Chr5:5q31.3	likely benign
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_005219.5(DIAPH1):c.3195A>G (p.Gln1065=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001487199]	Chr5:141527651 [GRCh38] Chr5:140907218 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000803533]	Chr5:141575037 [GRCh38] Chr5:140954604 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000816864]\|DIAPH1-related disorder [RCV003955526]\|Inborn genetic diseases [RCV004973001]	Chr5:141573709 [GRCh38] Chr5:140953276 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000811590]	Chr5:141526413 [GRCh38] Chr5:140905980 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001082786]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001151711]\|DIAPH1-related disorder [RCV003917622]\|not provided [RCV000724127]\|not specified [RCV000221724]	Chr5:141574114 [GRCh38] Chr5:140953681 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2769del (p.Phe923fs)	deletion	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201796]	Chr5:141529181 [GRCh38] Chr5:140908748 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	single nucleotide variant	Deafness [RCV004798807]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201798]\|not provided [RCV000255778]	Chr5:141528456 [GRCh38] Chr5:140908023 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
NM_005219.5(DIAPH1):c.621-8A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001480447]	Chr5:141582383 [GRCh38] Chr5:140961950 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000556533]\|not specified [RCV000615816]	Chr5:141528834 [GRCh38] Chr5:140908401 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000534050]\|Inborn genetic diseases [RCV002526721]	Chr5:141526377 [GRCh38] Chr5:140905944 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001079161]\|not provided [RCV000421714]\|not specified [RCV000279070]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000701446]\|Inborn genetic diseases [RCV004026557]	Chr5:141526126 [GRCh38] Chr5:140905693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641+241C>G	single nucleotide variant	not provided [RCV001547580]	Chr5:141574726 [GRCh38] Chr5:140954293 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000937898]	Chr5:141573621 [GRCh38] Chr5:140953188 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001002757]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003768617]	Chr5:141573843 [GRCh38] Chr5:140953410 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001053189]\|Inborn genetic diseases [RCV004977935]	Chr5:141618850 [GRCh38] Chr5:140998417 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.1155G>A (p.Met385Ile)	single nucleotide variant	not provided [RCV003239152]	Chr5:141578233 [GRCh38] Chr5:140957800 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000797971]	Chr5:141578237 [GRCh38] Chr5:140957804 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.42C>G (p.Thr14=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151823]	Chr5:141618873 [GRCh38] Chr5:140998440 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001068904]\|Inborn genetic diseases [RCV004609611]	Chr5:141516993 [GRCh38] Chr5:140896560 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	copy number gain	not provided [RCV000848228]	Chr5:140424333..148985999 [GRCh37] Chr5:5q31.3-32	uncertain significance
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001225973]	Chr5:141516991 [GRCh38] Chr5:140896558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001217050]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV003492231]	Chr5:141534375..141534376 [GRCh38] Chr5:140913942..140913943 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001044881]	Chr5:141573779 [GRCh38] Chr5:140953346 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001223974]\|Microcephaly [RCV001252708]\|not provided [RCV001772186]	Chr5:141576813 [GRCh38] Chr5:140956380 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000987607]	Chr5:141527689 [GRCh38] Chr5:140907256 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001218405]	Chr5:141618865 [GRCh38] Chr5:140998432 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+285C>T	single nucleotide variant	not provided [RCV001564078]	Chr5:141618513 [GRCh38] Chr5:140998080 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001238111]	Chr5:141618832 [GRCh38] Chr5:140998399 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001220260]	Chr5:141528902 [GRCh38] Chr5:140908469 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001241104]	Chr5:141516906 [GRCh38] Chr5:140896473 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001196585]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002560224]	Chr5:141524163 [GRCh38] Chr5:140903730 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001198779]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003770219]	Chr5:141529217 [GRCh38] Chr5:140908784 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001231214]	Chr5:141618886 [GRCh38] Chr5:140998453 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001237560]\|not provided [RCV003232259]	Chr5:141573990..141573991 [GRCh38] Chr5:140953557..140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001204663]	Chr5:141583210 [GRCh38] Chr5:140962777 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3077T>C (p.Leu1026Ser)	single nucleotide variant	Inborn genetic diseases [RCV003268850]	Chr5:141528524 [GRCh38] Chr5:140908091 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000987608]\|not provided [RCV001573184]	Chr5:141527694 [GRCh38] Chr5:140907261 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152953]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV005213472]	Chr5:141575110 [GRCh38] Chr5:140954677 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001238504]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001235055]\|Inborn genetic diseases [RCV002563819]\|not provided [RCV001751460]	Chr5:141580801 [GRCh38] Chr5:140960368 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157171]	Chr5:141573780 [GRCh38] Chr5:140953347 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154658]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769739]\|not provided [RCV001772349]	Chr5:141528941 [GRCh38] Chr5:140908508 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001240236]	Chr5:141587173 [GRCh38] Chr5:140966740 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*811A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155370]	Chr5:141516040 [GRCh38] Chr5:140895607 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*724C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155371]	Chr5:141516127 [GRCh38] Chr5:140895694 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Val1069_Glu1070insSer)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001241891]	Chr5:141527639..141527640 [GRCh38] Chr5:140907206..140907207 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001216656]\|Inborn genetic diseases [RCV002561904]\|not provided [RCV001773483]	Chr5:141573589 [GRCh38] Chr5:140953156 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001202055]	Chr5:141587190 [GRCh38] Chr5:140966757 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.726A>T (p.Leu242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003106264]	Chr5:141580842 [GRCh38] Chr5:140960409 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1281-147T>G	single nucleotide variant	not provided [RCV001577466]	Chr5:141577018 [GRCh38] Chr5:140956585 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-121T>C	single nucleotide variant	not provided [RCV001551752]	Chr5:141526582 [GRCh38] Chr5:140906149 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3439-27G>A	single nucleotide variant	not provided [RCV001567745]	Chr5:141526200 [GRCh38] Chr5:140905767 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1380G>C (p.Glu460Asp)	single nucleotide variant	Inborn genetic diseases [RCV003292136]	Chr5:141576772 [GRCh38] Chr5:140956339 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+181C>G	single nucleotide variant	not provided [RCV001559979]	Chr5:141618617 [GRCh38] Chr5:140998184 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+101A>G	single nucleotide variant	not provided [RCV001560065]	Chr5:141584023 [GRCh38] Chr5:140963590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.-21C>T	single nucleotide variant	not provided [RCV001590763]	Chr5:141618935 [GRCh38] Chr5:140998502 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-156G>A	single nucleotide variant	not provided [RCV001698803]	Chr5:141574364 [GRCh38] Chr5:140953931 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1641+77C>T	single nucleotide variant	not provided [RCV001585587]	Chr5:141574890 [GRCh38] Chr5:140954457 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+122G>C	single nucleotide variant	not provided [RCV001550192]	Chr5:141571306 [GRCh38] Chr5:140950873 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-22dup	duplication	not provided [RCV001555427]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NC_000005.10:g.141619237G>T	single nucleotide variant	not provided [RCV001560854]	Chr5:141619237 [GRCh38] Chr5:140998804 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2581+240A>T	single nucleotide variant	not provided [RCV001645699]	Chr5:141534095 [GRCh38] Chr5:140913662 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3273+65G>A	single nucleotide variant	not provided [RCV001562168]	Chr5:141527508 [GRCh38] Chr5:140907075 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3155C>T (p.Ala1052Val)	single nucleotide variant	not provided [RCV001562329]	Chr5:141527691 [GRCh38] Chr5:140907258 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-204C>G	single nucleotide variant	not provided [RCV001562360]	Chr5:141581087 [GRCh38] Chr5:140960654 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-24T>G	single nucleotide variant	not provided [RCV001586408]	Chr5:141527721 [GRCh38] Chr5:140907288 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1482C>A (p.Ala494=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002072096]\|not provided [RCV001557306]	Chr5:141575126 [GRCh38] Chr5:140954693 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+8T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002072097]\|not provided [RCV001557351]	Chr5:141618790 [GRCh38] Chr5:140998357 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.402+58dup	duplication	not provided [RCV001577678]	Chr5:141584056..141584057 [GRCh38] Chr5:140963623..140963624 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+63G>A	single nucleotide variant	not provided [RCV001718383]	Chr5:141573429 [GRCh38] Chr5:140952996 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.117+238C>T	single nucleotide variant	not provided [RCV001545813]	Chr5:141618560 [GRCh38] Chr5:140998127 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2676+21G>A	single nucleotide variant	not provided [RCV001587703]	Chr5:141529582 [GRCh38] Chr5:140909149 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+57del	deletion	not provided [RCV001657001]	Chr5:141573435 [GRCh38] Chr5:140953002 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.117+9C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000973850]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001732000]	Chr5:141618789 [GRCh38] Chr5:140998356 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000978145]\|not provided [RCV001541302]	Chr5:141576814 [GRCh38] Chr5:140956381 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-5C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001398907]	Chr5:141587202 [GRCh38] Chr5:140966769 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151606]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001429705]	Chr5:141516893 [GRCh38] Chr5:140896460 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3149-25_3149-15dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002546040]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.685-8_685-6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001515903]	Chr5:141580889..141580891 [GRCh38] Chr5:140960456..140960458 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000887542]\|DIAPH1-related disorder [RCV003955932]\|not provided [RCV001576993]	Chr5:141571962 [GRCh38] Chr5:140951529 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1044+9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001418921]	Chr5:141578506 [GRCh38] Chr5:140958073 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-4G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001423822]	Chr5:141517012 [GRCh38] Chr5:140896579 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2779-6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001393646]	Chr5:141528947 [GRCh38] Chr5:140908514 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3570T>C (p.Asn1190=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001412682]	Chr5:141526042 [GRCh38] Chr5:140905609 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001199113]	Chr5:141527684 [GRCh38] Chr5:140907251 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151713]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769726]	Chr5:141575014 [GRCh38] Chr5:140954581 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151714]	Chr5:141575077 [GRCh38] Chr5:140954644 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001244153]	Chr5:141575013 [GRCh38] Chr5:140954580 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+12C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155596]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV005213474]	Chr5:141579076 [GRCh38] Chr5:140958643 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.933+5G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155597]	Chr5:141579083 [GRCh38] Chr5:140958650 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*521G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157058]	Chr5:141516330 [GRCh38] Chr5:140895897 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*332T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157059]	Chr5:141516519 [GRCh38] Chr5:140896086 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*325G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157060]	Chr5:141516526 [GRCh38] Chr5:140896093 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-4A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157271]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002070936]	Chr5:141582379 [GRCh38] Chr5:140961946 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001227289]	Chr5:141582319 [GRCh38] Chr5:140961886 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152954]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002070861]	Chr5:141576793 [GRCh38] Chr5:140956360 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3783T>C (p.Leu1261=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001401525]	Chr5:141516887 [GRCh38] Chr5:140896454 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+164T>C	single nucleotide variant	not provided [RCV001557321]	Chr5:141580580 [GRCh38] Chr5:140960147 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1164-186T>C	single nucleotide variant	not provided [RCV001562743]	Chr5:141577777 [GRCh38] Chr5:140957344 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+70G>C	single nucleotide variant	not provided [RCV001562889]	Chr5:141571358 [GRCh38] Chr5:140950925 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+143C>T	single nucleotide variant	not provided [RCV001548628]	Chr5:141573349 [GRCh38] Chr5:140952916 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+63T>A	single nucleotide variant	not provided [RCV001567931]	Chr5:141571863 [GRCh38] Chr5:140951430 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.-3G>C	single nucleotide variant	not provided [RCV001552244]	Chr5:141618917 [GRCh38] Chr5:140998484 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+213G>A	single nucleotide variant	not provided [RCV001570802]	Chr5:141576017 [GRCh38] Chr5:140955584 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-174G>A	single nucleotide variant	not provided [RCV001593887]	Chr5:141576468 [GRCh38] Chr5:140956035 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-24dup	duplication	not provided [RCV001693418]\|not specified [RCV001726612]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1641+51T>G	single nucleotide variant	not provided [RCV001554916]	Chr5:141574916 [GRCh38] Chr5:140954483 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-12T>G	single nucleotide variant	not provided [RCV002469828]	Chr5:141582387 [GRCh38] Chr5:140961954 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2778+27G>T	single nucleotide variant	not provided [RCV001576098]	Chr5:141529145 [GRCh38] Chr5:140908712 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-223C>T	single nucleotide variant	not provided [RCV001576506]	Chr5:141588473 [GRCh38] Chr5:140968040 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-57G>A	single nucleotide variant	not provided [RCV001569011]	Chr5:141534490 [GRCh38] Chr5:140914057 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-221A>G	single nucleotide variant	not provided [RCV001550528]	Chr5:141579417 [GRCh38] Chr5:140958984 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+28C>G	single nucleotide variant	not provided [RCV001556007]	Chr5:141580716 [GRCh38] Chr5:140960283 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+163G>T	single nucleotide variant	not provided [RCV001556127]	Chr5:141523980 [GRCh38] Chr5:140903547 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3469G>A (p.Glu1157Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004821417]	Chr5:141526143 [GRCh38] Chr5:140905710 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1462-241T>C	single nucleotide variant	not provided [RCV001722740]	Chr5:141575387 [GRCh38] Chr5:140954954 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2581+106A>G	single nucleotide variant	not provided [RCV001592366]	Chr5:141534229 [GRCh38] Chr5:140913796 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-224del	deletion	not provided [RCV001619507]	Chr5:141588474 [GRCh38] Chr5:140968041 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.118-240dup	duplication	not provided [RCV001621702]	Chr5:141588473..141588474 [GRCh38] Chr5:140968040..140968041 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.144+40T>C	single nucleotide variant	not provided [RCV001595996]	Chr5:141588184 [GRCh38] Chr5:140967751 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3149-96G>A	single nucleotide variant	not provided [RCV001593907]	Chr5:141527793 [GRCh38] Chr5:140907360 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001882721]\|not provided [RCV001593334]	Chr5:141584182 [GRCh38] Chr5:140963749 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1642-251T>C	single nucleotide variant	not provided [RCV001689222]	Chr5:141574459 [GRCh38] Chr5:140954026 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.301-230dup	duplication	not provided [RCV001621216]	Chr5:141584448..141584449 [GRCh38] Chr5:140964015..140964016 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2474-28T>C	single nucleotide variant	not provided [RCV001592598]	Chr5:141571464 [GRCh38] Chr5:140951031 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157173]	Chr5:141573859 [GRCh38] Chr5:140953426 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157270]	Chr5:141582331 [GRCh38] Chr5:140961898 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157172]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001237738]\|DIAPH1-related disorder [RCV004753219]\|Inborn genetic diseases [RCV004032826]	Chr5:141573814 [GRCh38] Chr5:140953381 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1044+15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152955]	Chr5:141578500 [GRCh38] Chr5:140958067 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.981A>G (p.Glu327=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152956]	Chr5:141578578 [GRCh38] Chr5:140958145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155492]	Chr5:141529652 [GRCh38] Chr5:140909219 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155493]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769742]	Chr5:141571447 [GRCh38] Chr5:140951014 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001222636]	Chr5:141573701 [GRCh38] Chr5:140953268 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154654]	Chr5:141516934 [GRCh38] Chr5:140896501 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1309A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154535]	Chr5:141515542 [GRCh38] Chr5:140895109 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*870G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155368]	Chr5:141515981 [GRCh38] Chr5:140895548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155494]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769743]	Chr5:141573513 [GRCh38] Chr5:140953080 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3149-79T>C	single nucleotide variant	not provided [RCV001541430]	Chr5:141527776 [GRCh38] Chr5:140907343 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+58G>T	single nucleotide variant	not provided [RCV001651929]	Chr5:141573434 [GRCh38] Chr5:140953001 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1164-308T>G	single nucleotide variant	not provided [RCV001665831]	Chr5:141577899 [GRCh38] Chr5:140957466 [GRCh37] Chr5:5q31.3	benign
NC_000005.10:g.141619209dup	duplication	not provided [RCV001710988]	Chr5:141619200..141619201 [GRCh38] Chr5:140998767..140998768 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3274-244_3274-243insAAAAA	insertion	not provided [RCV001651980]	Chr5:141526704..141526705 [GRCh38] Chr5:140906271..140906272 [GRCh37] Chr5:5q31.3	benign
NC_000005.10:g.(?_141516831)_(141618934_?)del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001031702]	Chr5:140896398..140998501 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.301-114_301-110del	deletion	not provided [RCV001644110]	Chr5:141584335..141584339 [GRCh38] Chr5:140963902..140963906 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001215634]	Chr5:141571989 [GRCh38] Chr5:140951556 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001041831]	Chr5:141575059 [GRCh38] Chr5:140954626 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001060332]	Chr5:141524166 [GRCh38] Chr5:140903733 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151821]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001882470]	Chr5:141587112 [GRCh38] Chr5:140966679 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001042799]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001061302]	Chr5:141574015 [GRCh38] Chr5:140953582 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001036660]	Chr5:141571998 [GRCh38] Chr5:140951565 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001057925]\|Inborn genetic diseases [RCV004977955]	Chr5:141579196 [GRCh38] Chr5:140958763 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001058013]\|not provided [RCV004773273]	Chr5:141618827 [GRCh38] Chr5:140998394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs)	duplication	not provided [RCV001092022]	Chr5:141528818..141528819 [GRCh38] Chr5:140908385..140908386 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001204007]	Chr5:141573694 [GRCh38] Chr5:140953261 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001245910]	Chr5:141528914 [GRCh38] Chr5:140908481 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001220555]	Chr5:141526126 [GRCh38] Chr5:140905693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001220765]	Chr5:141579158 [GRCh38] Chr5:140958725 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001059819]	Chr5:141528578 [GRCh38] Chr5:140908145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001223317]\|Inborn genetic diseases [RCV004978140]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*867G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155369]	Chr5:141515984 [GRCh38] Chr5:140895551 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001225104]	Chr5:141575031 [GRCh38] Chr5:140954598 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155598]	Chr5:141579199 [GRCh38] Chr5:140958766 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001028027]	Chr5:141528775 [GRCh38] Chr5:140908342 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs)	deletion	Hearing impairment [RCV001003903]	Chr5:141524174..141524175 [GRCh38] Chr5:140903741..140903742 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001208737]	Chr5:141587148 [GRCh38] Chr5:140966715 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1533C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151523]	Chr5:141515318 [GRCh38] Chr5:140894885 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*644C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157057]	Chr5:141516207 [GRCh38] Chr5:140895774 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001070526]	Chr5:141587042 [GRCh38] Chr5:140966609 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154655]	Chr5:141526145 [GRCh38] Chr5:140905712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001216657]	Chr5:141582368 [GRCh38] Chr5:140961935 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*224G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001253907]	Chr5:141516627 [GRCh38] Chr5:140896194 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*88C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001253908]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002480870]\|not provided [RCV004692354]	Chr5:141516763 [GRCh38] Chr5:140896330 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001350046]	Chr5:141527626..141527627 [GRCh38] Chr5:140907193..140907194 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001294486]	Chr5:141574967 [GRCh38] Chr5:140954534 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+280del	deletion	not provided [RCV001527864]	Chr5:141586762 [GRCh38] Chr5:140966329 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001301277]	Chr5:141580750 [GRCh38] Chr5:140960317 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001327453]	Chr5:141574093 [GRCh38] Chr5:140953660 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001296178]	Chr5:141578555 [GRCh38] Chr5:140958122 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001306021]	Chr5:141618835 [GRCh38] Chr5:140998402 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001307976]	Chr5:141573787 [GRCh38] Chr5:140953354 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001332582]	Chr5:141587188 [GRCh38] Chr5:140966755 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001317615]	Chr5:141528471 [GRCh38] Chr5:140908038 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001351414]\|Inborn genetic diseases [RCV002548477]	Chr5:141584219 [GRCh38] Chr5:140963786 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001302982]\|Inborn genetic diseases [RCV004978276]	Chr5:141526361 [GRCh38] Chr5:140905928 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001349692]	Chr5:141574118 [GRCh38] Chr5:140953685 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001320620]	Chr5:141573749 [GRCh38] Chr5:140953316 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)	duplication	Neonatal seizure [RCV001328493]	Chr5:141528484..141528485 [GRCh38] Chr5:140908051..140908052 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001326255]	Chr5:141580798 [GRCh38] Chr5:140960365 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001343948]	Chr5:141573745..141573783 [GRCh38] Chr5:140953312..140953350 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088]	Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-3C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001362312]	Chr5:141577594 [GRCh38] Chr5:140957161 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001392217]\|DIAPH1-related disorder [RCV003908557]	Chr5:141573522 [GRCh38] Chr5:140953089 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-7_3149-6insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001413748]	Chr5:141527703..141527704 [GRCh38] Chr5:140907270..140907271 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001362481]	Chr5:141577507 [GRCh38] Chr5:140957074 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001383240]	Chr5:141618806..141618807 [GRCh38] Chr5:140998373..140998374 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001371755]\|Inborn genetic diseases [RCV003284284]	Chr5:141574202 [GRCh38] Chr5:140953769 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2358+229G>A	single nucleotide variant	not provided [RCV001581666]	Chr5:141573263 [GRCh38] Chr5:140952830 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001344682]	Chr5:141578589 [GRCh38] Chr5:140958156 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001312356]	Chr5:141528925 [GRCh38] Chr5:140908492 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001312509]	Chr5:141576794 [GRCh38] Chr5:140956361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001307416]	Chr5:141534339 [GRCh38] Chr5:140913906 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001365006]	Chr5:141618902 [GRCh38] Chr5:140998469 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001321943]\|not provided [RCV001575208]	Chr5:141573997..141574011 [GRCh38] Chr5:140953564..140953578 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001315921]	Chr5:141573739 [GRCh38] Chr5:140953306 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001346032]\|not provided [RCV003238862]	Chr5:141526310 [GRCh38] Chr5:140905877 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001304168]\|Inborn genetic diseases [RCV004609739]	Chr5:141528842 [GRCh38] Chr5:140908409 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001338942]	Chr5:141516912 [GRCh38] Chr5:140896479 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001316079]\|Inborn genetic diseases [RCV004034382]\|not provided [RCV001578089]	Chr5:141526421 [GRCh38] Chr5:140905988 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001315042]\|Inborn genetic diseases [RCV002543661]	Chr5:141528874 [GRCh38] Chr5:140908441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001370452]	Chr5:141524160 [GRCh38] Chr5:140903727 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001340160]\|not provided [RCV001773677]	Chr5:141575065 [GRCh38] Chr5:140954632 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001319422]	Chr5:141516861 [GRCh38] Chr5:140896428 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001373054]	Chr5:141618849 [GRCh38] Chr5:140998416 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001363766]	Chr5:141583605 [GRCh38] Chr5:140963172 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001315214]\|DIAPH1-related disorder [RCV003898300]	Chr5:141528817 [GRCh38] Chr5:140908384 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001363867]	Chr5:141574030 [GRCh38] Chr5:140953597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001345594]	Chr5:141573751 [GRCh38] Chr5:140953318 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001350213]	Chr5:141517005 [GRCh38] Chr5:140896572 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001349654]	Chr5:141574054 [GRCh38] Chr5:140953621 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3273+8C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001297762]	Chr5:141527565 [GRCh38] Chr5:140907132 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001865876]\|Hearing impairment [RCV001375301]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)	duplication	Pendred syndrome [RCV001375466]	Chr5:141574011..141574012 [GRCh38] Chr5:140953578..140953579 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.145-1G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001376740]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001332581]	Chr5:141587198 [GRCh38] Chr5:140966765 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001413356]\|not provided [RCV003433144]	Chr5:141526147 [GRCh38] Chr5:140905714 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.252G>A (p.Leu84=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001395078]	Chr5:141587090 [GRCh38] Chr5:140966657 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001313432]	Chr5:141528904 [GRCh38] Chr5:140908471 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter)	single nucleotide variant	Neonatal seizure [RCV001328492]	Chr5:141526122 [GRCh38] Chr5:140905689 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3575-6T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001492176]	Chr5:141524235 [GRCh38] Chr5:140903802 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2982T>C (p.Ala994=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001495471]	Chr5:141528738 [GRCh38] Chr5:140908305 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2133A>G (p.Ala711=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001464296]	Chr5:141573717 [GRCh38] Chr5:140953284 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1122T>C (p.Tyr374=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001435940]	Chr5:141578266 [GRCh38] Chr5:140957833 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.75G>A (p.Glu25=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001490933]	Chr5:141618840 [GRCh38] Chr5:140998407 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001417247]\|not provided [RCV003227974]	Chr5:141526060 [GRCh38] Chr5:140905627 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3060A>G (p.Leu1020=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001462812]	Chr5:141528541 [GRCh38] Chr5:140908108 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1396+9A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001462839]	Chr5:141576747 [GRCh38] Chr5:140956314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001471497]	Chr5:141573756 [GRCh38] Chr5:140953323 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001403038]	Chr5:141578533 [GRCh38] Chr5:140958100 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2370G>A (p.Glu790=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001442012]	Chr5:141572029 [GRCh38] Chr5:140951596 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+10G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001462145]\|DIAPH1-related disorder [RCV003930963]\|not provided [RCV001797178]\|not specified [RCV001820157]	Chr5:141526028 [GRCh38] Chr5:140905595 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1701G>A (p.Ala567=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001439458]	Chr5:141574149 [GRCh38] Chr5:140953716 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001474399]\|DIAPH1-related disorder [RCV003980397]	Chr5:141526459 [GRCh38] Chr5:140906026 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001390711]	Chr5:141528579 [GRCh38] Chr5:140908146 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001501243]	Chr5:141528909 [GRCh38] Chr5:140908476 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3219T>G (p.Val1073=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001393814]	Chr5:141527627 [GRCh38] Chr5:140907194 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.189G>A (p.Lys63=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001427617]	Chr5:141587153 [GRCh38] Chr5:140966720 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV001438399]	Chr5:141578250..141578251 [GRCh38] Chr5:140957817..140957818 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.727C>T (p.Leu243=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001426487]	Chr5:141580841 [GRCh38] Chr5:140960408 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2463C>G (p.Ala821=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001430962]	Chr5:141571936 [GRCh38] Chr5:140951503 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001447018]	Chr5:141573822 [GRCh38] Chr5:140953389 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2850G>A (p.Val950=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001431124]	Chr5:141528870 [GRCh38] Chr5:140908437 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.840G>A (p.Leu280=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001408071]	Chr5:141579181 [GRCh38] Chr5:140958748 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1045-11G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001405996]	Chr5:141578354 [GRCh38] Chr5:140957921 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.735C>T (p.Val245=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001448114]	Chr5:141580833 [GRCh38] Chr5:140960400 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.930G>A (p.Leu310=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001406516]	Chr5:141579091 [GRCh38] Chr5:140958658 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-19T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001519194]\|not provided [RCV001568210]	Chr5:141582394 [GRCh38] Chr5:140961961 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3450G>A (p.Lys1150=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001494789]	Chr5:141526162 [GRCh38] Chr5:140905729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+283dup	duplication	not provided [RCV001674955]	Chr5:141580450..141580451 [GRCh38] Chr5:140960017..140960018 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3661+34G>A	single nucleotide variant	not provided [RCV001572451]	Chr5:141524109 [GRCh38] Chr5:140903676 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001480882]	Chr5:141618788 [GRCh38] Chr5:140998355 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002501988]\|not provided [RCV001654301]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3575-78T>G	single nucleotide variant	not provided [RCV001587591]	Chr5:141524307 [GRCh38] Chr5:140903874 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001472038]	Chr5:141526084 [GRCh38] Chr5:140905651 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+36dup	duplication	not provided [RCV001530786]	Chr5:141573434..141573435 [GRCh38] Chr5:140953001..140953002 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001246768]	Chr5:141534371 [GRCh38] Chr5:140913938 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001215370]\|Inborn genetic diseases [RCV002561863]\|not provided [RCV005054345]	Chr5:141528907 [GRCh38] Chr5:140908474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001205206]	Chr5:141516999 [GRCh38] Chr5:140896566 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu)	single nucleotide variant	Hearing impairment [RCV001375329]	Chr5:141578613 [GRCh38] Chr5:140958180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1045-9T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001439078]	Chr5:141578352 [GRCh38] Chr5:140957919 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1045-20T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001520201]\|not provided [RCV001581171]	Chr5:141578363 [GRCh38] Chr5:140957930 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.582T>C (p.Ile194=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001399706]	Chr5:141583244 [GRCh38] Chr5:140962811 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-9G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001485918]	Chr5:141588259 [GRCh38] Chr5:140967826 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001474015]	Chr5:141571930 [GRCh38] Chr5:140951497 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001498144]	Chr5:141575066 [GRCh38] Chr5:140954633 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001501923]	Chr5:141516878 [GRCh38] Chr5:140896445 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1280+7T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001457334]	Chr5:141577468 [GRCh38] Chr5:140957035 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001505109]	Chr5:141575160 [GRCh38] Chr5:140954727 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+8A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001454490]	Chr5:141524135 [GRCh38] Chr5:140903702 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+8G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001496674]\|DIAPH1-related disorder [RCV003980434]	Chr5:141526030 [GRCh38] Chr5:140905597 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.22C>T (p.Leu8=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001443704]	Chr5:141618893 [GRCh38] Chr5:140998460 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-20G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001454627]	Chr5:141579216 [GRCh38] Chr5:140958783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001400329]	Chr5:141528456 [GRCh38] Chr5:140908023 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001404761]	Chr5:141575099 [GRCh38] Chr5:140954666 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001432900]	Chr5:141573621 [GRCh38] Chr5:140953188 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+20_1461+21delinsAG	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV001483731]	Chr5:141576209..141576210 [GRCh38] Chr5:140955776..140955777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2199C>T (p.Pro733=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001483785]	Chr5:141573651 [GRCh38] Chr5:140953218 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001437728]	Chr5:141584116 [GRCh38] Chr5:140963683 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3357C>A (p.Gly1119=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001472143]	Chr5:141526378 [GRCh38] Chr5:140905945 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001479562]\|DIAPH1-related disorder [RCV003980407]	Chr5:141571963 [GRCh38] Chr5:140951530 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+5G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003108433]	Chr5:141588219 [GRCh38] Chr5:140967786 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2140C>A (p.Pro714Thr)	single nucleotide variant	not provided [RCV001727334]	Chr5:141573710 [GRCh38] Chr5:140953277 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3706G>T (p.Glu1236Ter)	single nucleotide variant	not specified [RCV002247135]	Chr5:141516964 [GRCh38] Chr5:140896531 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.762C>A (p.Asn254Lys)	single nucleotide variant	not provided [RCV001761186]	Chr5:141580806 [GRCh38] Chr5:140960373 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002540515]\|not provided [RCV001769459]	Chr5:141583288 [GRCh38] Chr5:140962855 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3054GTT[1] (p.Leu1020del)	microsatellite	not provided [RCV001763109]	Chr5:141528542..141528544 [GRCh38] Chr5:140908109..140908111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002540426]\|not provided [RCV001752357]	Chr5:141526311 [GRCh38] Chr5:140905878 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.910dup (p.Ser304fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001944993]	Chr5:141579110..141579111 [GRCh38] Chr5:140958677..140958678 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3410A>T (p.Asp1137Val)	single nucleotide variant	not provided [RCV001786014]	Chr5:141526325 [GRCh38] Chr5:140905892 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002543957]\|Inborn genetic diseases [RCV004980635]\|not provided [RCV001751885]	Chr5:141526145 [GRCh38] Chr5:140905712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2685T>G (p.Ile895Met)	single nucleotide variant	not provided [RCV001752303]	Chr5:141529265 [GRCh38] Chr5:140908832 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3812C>T (p.Ala1271Val)	single nucleotide variant	not provided [RCV001752399]	Chr5:141516858 [GRCh38] Chr5:140896425 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1979G>T (p.Gly660Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213578]\|not provided [RCV001752513]	Chr5:141573871 [GRCh38] Chr5:140953438 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.658T>C (p.Cys220Arg)	single nucleotide variant	not provided [RCV001760815]	Chr5:141582338 [GRCh38] Chr5:140961905 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+9A>G	single nucleotide variant	not specified [RCV001819550]	Chr5:141579079 [GRCh38] Chr5:140958646 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+7T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002077277]\|not specified [RCV001822266]	Chr5:141587035 [GRCh38] Chr5:140966602 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001907915]\|Inborn genetic diseases [RCV003164214]	Chr5:141528490 [GRCh38] Chr5:140908057 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001971368]	Chr5:141578559 [GRCh38] Chr5:140958126 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2694G>A (p.Met898Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001863727]	Chr5:141529256 [GRCh38] Chr5:140908823 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002024044]	Chr5:141516898 [GRCh38] Chr5:140896465 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001912245]	Chr5:141579167 [GRCh38] Chr5:140958734 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1257G>T (p.Leu419Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001915039]	Chr5:141577498 [GRCh38] Chr5:140957065 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3419A>G (p.Asn1140Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001987934]	Chr5:141526316 [GRCh38] Chr5:140905883 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893034]\|Inborn genetic diseases [RCV004039169]\|not provided [RCV004774508]	Chr5:141577554 [GRCh38] Chr5:140957121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001988826]	Chr5:141578540 [GRCh38] Chr5:140958107 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3209A>C (p.Glu1070Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893972]	Chr5:141527637 [GRCh38] Chr5:140907204 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001914695]	Chr5:141572029 [GRCh38] Chr5:140951596 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002044172]\|Inborn genetic diseases [RCV003164024]	Chr5:141574150 [GRCh38] Chr5:140953717 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1808G>C (p.Gly603Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001872903]	Chr5:141574042 [GRCh38] Chr5:140953609 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001873948]	Chr5:141587124 [GRCh38] Chr5:140966691 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001988501]	Chr5:141573800 [GRCh38] Chr5:140953367 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001896609]\|Inborn genetic diseases [RCV004611969]	Chr5:141573503 [GRCh38] Chr5:140953070 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.596A>G (p.His199Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001873008]	Chr5:141583230 [GRCh38] Chr5:140962797 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001895381]\|not provided [RCV003313244]	Chr5:141529634 [GRCh38] Chr5:140909201 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3340C>G (p.Leu1114Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911913]	Chr5:141526395 [GRCh38] Chr5:140905962 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001965366]	Chr5:141573749 [GRCh38] Chr5:140953316 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001927694]	Chr5:141618819 [GRCh38] Chr5:140998386 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1420_1421delinsAG (p.Val474Arg)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV001895444]	Chr5:141576270..141576271 [GRCh38] Chr5:140955837..140955838 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3179A>G (p.Asp1060Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001970392]	Chr5:141527667 [GRCh38] Chr5:140907234 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001929099]\|not provided [RCV003238879]	Chr5:141573845..141573847 [GRCh38] Chr5:140953412..140953414 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.684+6A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002023873]\|DIAPH1-related disorder [RCV003978466]	Chr5:141582306 [GRCh38] Chr5:140961873 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001971008]	Chr5:141578231 [GRCh38] Chr5:140957798 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002005309]	Chr5:141571985 [GRCh38] Chr5:140951552 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.114A>G (p.Lys38=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002045577]	Chr5:141618801 [GRCh38] Chr5:140998368 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001984846]\|Inborn genetic diseases [RCV004042904]	Chr5:141573935 [GRCh38] Chr5:140953502 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1741C>T (p.Pro581Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001966196]	Chr5:141574109 [GRCh38] Chr5:140953676 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001910179]	Chr5:141528563 [GRCh38] Chr5:140908130 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1948A>G (p.Thr650Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001986213]	Chr5:141573902 [GRCh38] Chr5:140953469 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV002003974]\|not provided [RCV004721000]	Chr5:141618855..141618856 [GRCh38] Chr5:140998422..140998423 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001894335]	Chr5:141578565 [GRCh38] Chr5:140958132 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3293A>T (p.Gln1098Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001967370]	Chr5:141526442 [GRCh38] Chr5:140906009 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001861040]\|Vascular dementia [RCV002051760]\|not provided [RCV003317520]	Chr5:141578295 [GRCh38] Chr5:140957862 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002001817]\|Inborn genetic diseases [RCV002561525]	Chr5:141529177 [GRCh38] Chr5:140908744 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1822C>G (p.Pro608Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001945368]	Chr5:141574028 [GRCh38] Chr5:140953595 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-5T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001908332]	Chr5:141526466 [GRCh38] Chr5:140906033 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001966736]	Chr5:141534402 [GRCh38] Chr5:140913969 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002005155]	Chr5:141516889 [GRCh38] Chr5:140896456 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001892582]	Chr5:141516867 [GRCh38] Chr5:140896434 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2921C>G (p.Ser974Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001928426]	Chr5:141528799 [GRCh38] Chr5:140908366 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1854_1856dup (p.Pro620dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001912494]	Chr5:141573993..141573994 [GRCh38] Chr5:140953560..140953561 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1606G>T (p.Asp536Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001913206]	Chr5:141575002 [GRCh38] Chr5:140954569 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001970450]	Chr5:141573683 [GRCh38] Chr5:140953250 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002041820]\|not provided [RCV004693783]	Chr5:141618828 [GRCh38] Chr5:140998395 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3332T>C (p.Met1111Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001872506]	Chr5:141526403 [GRCh38] Chr5:140905970 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001987265]	Chr5:141526305 [GRCh38] Chr5:140905872 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3550G>C (p.Glu1184Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001910875]	Chr5:141526062 [GRCh38] Chr5:140905629 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002004844]	Chr5:141583266 [GRCh38] Chr5:140962833 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1681G>A (p.Glu561Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001927877]	Chr5:141574169 [GRCh38] Chr5:140953736 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002043140]	Chr5:141527658 [GRCh38] Chr5:140907225 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001987321]\|not provided [RCV002225951]	Chr5:141576252 [GRCh38] Chr5:140955819 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2764C>A (p.Gln922Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001968320]	Chr5:141529186 [GRCh38] Chr5:140908753 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001983888]	Chr5:141588249 [GRCh38] Chr5:140967816 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.512C>G (p.Ser171Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001927503]	Chr5:141583506 [GRCh38] Chr5:140963073 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2677-9_2677-6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002003024]	Chr5:141529279..141529282 [GRCh38] Chr5:140908846..140908849 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002039599]	Chr5:141573825 [GRCh38] Chr5:140953392 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001912718]	Chr5:141527634 [GRCh38] Chr5:140907201 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.459G>T (p.Arg153Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001986752]	Chr5:141583559 [GRCh38] Chr5:140963126 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.614C>T (p.Thr205Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893139]	Chr5:141583212 [GRCh38] Chr5:140962779 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1892CTT[1] (p.Ser632del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893593]	Chr5:141573953..141573955 [GRCh38] Chr5:140953520..140953522 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001968507]	Chr5:141573820 [GRCh38] Chr5:140953387 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1927C>A (p.Pro643Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001928031]	Chr5:141573923 [GRCh38] Chr5:140953490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1834C>G (p.Pro612Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002023691]	Chr5:141574016 [GRCh38] Chr5:140953583 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001946468]	Chr5:141528473 [GRCh38] Chr5:140908040 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3018+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002002265]	Chr5:141528699 [GRCh38] Chr5:140908266 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3018+6C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911176]	Chr5:141528696 [GRCh38] Chr5:140908263 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001913437]	Chr5:141578598 [GRCh38] Chr5:140958165 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911202]	Chr5:141516922 [GRCh38] Chr5:140896489 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.975G>A (p.Ala325=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001984814]	Chr5:141578584 [GRCh38] Chr5:140958151 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911516]	Chr5:141618799 [GRCh38] Chr5:140998366 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1480G>T (p.Ala494Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002050591]	Chr5:141575128 [GRCh38] Chr5:140954695 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.222A>G (p.Ser74=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002037604]	Chr5:141587120 [GRCh38] Chr5:140966687 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.440T>C (p.Met147Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001943107]	Chr5:141583578 [GRCh38] Chr5:140963145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1853C>T (p.Pro618Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001944430]\|Inborn genetic diseases [RCV004612016]	Chr5:141573997 [GRCh38] Chr5:140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2296G>A (p.Gly766Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001880372]	Chr5:141573554 [GRCh38] Chr5:140953121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3604C>G (p.Leu1202Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001886734]	Chr5:141524200 [GRCh38] Chr5:140903767 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001884549]	Chr5:141577542 [GRCh38] Chr5:140957109 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001974242]	Chr5:141516862 [GRCh38] Chr5:140896429 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1791ACC[1] (p.Pro599_Pro600del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002038592]	Chr5:141574051..141574056 [GRCh38] Chr5:140953618..140953623 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001886623]\|Inborn genetic diseases [RCV003264187]\|not provided [RCV005051924]	Chr5:141578237 [GRCh38] Chr5:140957804 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1781C>T (p.Thr594Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002000363]	Chr5:141574069 [GRCh38] Chr5:140953636 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002000793]	Chr5:141573541 [GRCh38] Chr5:140953108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359C>T (p.Leu787Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002036485]	Chr5:141572040 [GRCh38] Chr5:140951607 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001884548]	Chr5:141571430 [GRCh38] Chr5:140950997 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001925363]\|not provided [RCV003229902]	Chr5:141573935 [GRCh38] Chr5:140953502 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1280+2T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002001052]	Chr5:141577473 [GRCh38] Chr5:140957040 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001942951]\|Inborn genetic diseases [RCV002556303]	Chr5:141578541 [GRCh38] Chr5:140958108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2795G>T (p.Arg932Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001923396]\|Inborn genetic diseases [RCV004975860]	Chr5:141528925 [GRCh38] Chr5:140908492 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.127C>T (p.Arg43Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001989378]	Chr5:141588241 [GRCh38] Chr5:140967808 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001887150]	Chr5:141587136 [GRCh38] Chr5:140966703 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1891C>G (p.Pro631Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001887293]	Chr5:141573959 [GRCh38] Chr5:140953526 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.856A>G (p.Arg286Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001958175]	Chr5:141579165 [GRCh38] Chr5:140958732 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1606G>A (p.Asp536Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001973906]\|Inborn genetic diseases [RCV002573422]	Chr5:141575002 [GRCh38] Chr5:140954569 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001878581]\|not provided [RCV003442924]	Chr5:141579099 [GRCh38] Chr5:140958666 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1859C>A (p.Pro620His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001992355]	Chr5:141573991 [GRCh38] Chr5:140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002051384]	Chr5:141573608 [GRCh38] Chr5:140953175 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001881540]\|not provided [RCV004693873]	Chr5:141528919 [GRCh38] Chr5:140908486 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-2A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002033446]	Chr5:141582377 [GRCh38] Chr5:140961944 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1348C>A (p.Pro450Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001957614]	Chr5:141576804 [GRCh38] Chr5:140956371 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.239C>T (p.Thr80Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002046865]	Chr5:141587103 [GRCh38] Chr5:140966670 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001878848]	Chr5:141573826 [GRCh38] Chr5:140953393 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001993784]	Chr5:141573583 [GRCh38] Chr5:140953150 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001995662]	Chr5:141516981 [GRCh38] Chr5:140896548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001900656]\|Inborn genetic diseases [RCV004611931]	Chr5:141578544 [GRCh38] Chr5:140958111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3172A>T (p.Asn1058Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001876494]	Chr5:141527674 [GRCh38] Chr5:140907241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.70G>C (p.Asp24His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001993824]\|not specified [RCV005238125]	Chr5:141618845 [GRCh38] Chr5:140998412 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002031019]	Chr5:141516990 [GRCh38] Chr5:140896557 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001935379]	Chr5:141573661 [GRCh38] Chr5:140953228 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001897063]	Chr5:141582367 [GRCh38] Chr5:140961934 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3538C>G (p.Gln1180Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002047345]	Chr5:141526074 [GRCh38] Chr5:140905641 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001919847]\|not provided [RCV002264421]	Chr5:141573741..141573742 [GRCh38] Chr5:140953308..140953309 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002027530]	Chr5:141573827 [GRCh38] Chr5:140953394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3655C>T (p.Arg1219Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001902274]	Chr5:141524149 [GRCh38] Chr5:140903716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-18C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001989253]	Chr5:141572058 [GRCh38] Chr5:140951625 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001922152]	Chr5:141618843 [GRCh38] Chr5:140998410 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2035C>T (p.Pro679Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002047642]	Chr5:141573815 [GRCh38] Chr5:140953382 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1984G>T (p.Gly662Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002046391]	Chr5:141573866 [GRCh38] Chr5:140953433 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1468T>C (p.Ser490Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001917486]	Chr5:141575140 [GRCh38] Chr5:140954707 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.402+2T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001976454]	Chr5:141584122 [GRCh38] Chr5:140963689 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002036039]	Chr5:141573611 [GRCh38] Chr5:140953178 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3148+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903695]	Chr5:141528450 [GRCh38] Chr5:140908017 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1363C>T (p.Arg455Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001979977]	Chr5:141576789 [GRCh38] Chr5:140956356 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002049315]	Chr5:141582371 [GRCh38] Chr5:140961938 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997620]	Chr5:141527679 [GRCh38] Chr5:140907246 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001880335]	Chr5:141527680 [GRCh38] Chr5:140907247 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002030844]	Chr5:141573647 [GRCh38] Chr5:140953214 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3336G>C (p.Glu1112Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001958540]	Chr5:141526399 [GRCh38] Chr5:140905966 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002035565]	Chr5:141580817 [GRCh38] Chr5:140960384 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002032960]	Chr5:141573520 [GRCh38] Chr5:140953087 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1712C>G (p.Thr571Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001960393]	Chr5:141574138 [GRCh38] Chr5:140953705 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2926C>T (p.Leu976Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002047041]	Chr5:141528794 [GRCh38] Chr5:140908361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001921599]	Chr5:141524175 [GRCh38] Chr5:140903742 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.670T>C (p.Phe224Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001995888]	Chr5:141582326 [GRCh38] Chr5:140961893 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001998385]	Chr5:141529587 [GRCh38] Chr5:140909154 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3374A>T (p.Asp1125Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001866304]	Chr5:141526361 [GRCh38] Chr5:140905928 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.197C>G (p.Ser66Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903071]	Chr5:141587145 [GRCh38] Chr5:140966712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1795C>T (p.Pro599Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001981363]	Chr5:141574055 [GRCh38] Chr5:140953622 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001930160]	Chr5:141578283 [GRCh38] Chr5:140957850 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001918282]	Chr5:141573568 [GRCh38] Chr5:140953135 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.477G>T (p.Met159Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001957988]	Chr5:141583541 [GRCh38] Chr5:140963108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002019627]\|not provided [RCV003481244]	Chr5:141582362 [GRCh38] Chr5:140961929 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002009700]	Chr5:141578571 [GRCh38] Chr5:140958138 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2861A>G (p.Lys954Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001878069]	Chr5:141528859 [GRCh38] Chr5:140908426 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002016718]\|DIAPH1-related disorder [RCV003893077]	Chr5:141516965 [GRCh38] Chr5:140896532 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001960016]	Chr5:141573613 [GRCh38] Chr5:140953180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001919895]\|not provided [RCV004815738]	Chr5:141575038 [GRCh38] Chr5:140954605 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001952532]\|Inborn genetic diseases [RCV004975920]\|not provided [RCV002077344]	Chr5:141577484 [GRCh38] Chr5:140957051 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997981]	Chr5:141573824 [GRCh38] Chr5:140953391 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1766C>T (p.Pro589Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001879679]	Chr5:141574084 [GRCh38] Chr5:140953651 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140896398)_(140998501_?)dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001981576]	Chr5:140896398..140998501 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3302A>G (p.Tyr1101Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001930703]	Chr5:141526433 [GRCh38] Chr5:140906000 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2338C>T (p.Arg780Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001923717]	Chr5:141573512 [GRCh38] Chr5:140953079 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001955378]	Chr5:141578557 [GRCh38] Chr5:140958124 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2563A>C (p.Lys855Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001937744]	Chr5:141534353 [GRCh38] Chr5:140913920 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002036578]	Chr5:141516922 [GRCh38] Chr5:140896489 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002011345]	Chr5:141516877 [GRCh38] Chr5:140896444 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001877895]	Chr5:141573667 [GRCh38] Chr5:140953234 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002013948]	Chr5:141573784 [GRCh38] Chr5:140953351 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001961085]	Chr5:141578333 [GRCh38] Chr5:140957900 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001907129]	Chr5:141573749..141573750 [GRCh38] Chr5:140953316..140953317 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.27G>T (p.Gly9=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001959147]	Chr5:141618888 [GRCh38] Chr5:140998455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3463C>G (p.Arg1155Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997671]	Chr5:141526149 [GRCh38] Chr5:140905716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001925680]\|Inborn genetic diseases [RCV004611988]	Chr5:141571929 [GRCh38] Chr5:140951496 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1960C>T (p.Pro654Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997709]	Chr5:141573890 [GRCh38] Chr5:140953457 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1925C>T (p.Pro642Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001924852]	Chr5:141573925 [GRCh38] Chr5:140953492 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001998525]	Chr5:141583282 [GRCh38] Chr5:140962849 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001940540]	Chr5:141573789 [GRCh38] Chr5:140953356 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.139G>C (p.Asp47His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001982160]	Chr5:141588229 [GRCh38] Chr5:140967796 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1016del (p.Met339fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001906522]	Chr5:141578543 [GRCh38] Chr5:140958110 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2105C>T (p.Pro702Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001998548]	Chr5:141573745 [GRCh38] Chr5:140953312 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001961024]	Chr5:141576842 [GRCh38] Chr5:140956409 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001933928]\|not provided [RCV003235625]	Chr5:141578541 [GRCh38] Chr5:140958108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1406T>C (p.Ile469Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001921212]	Chr5:141576285 [GRCh38] Chr5:140955852 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1436C>G (p.Ala479Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002027130]	Chr5:141576255 [GRCh38] Chr5:140955822 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903946]	Chr5:141573756..141573794 [GRCh38] Chr5:140953323..140953361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3220C>G (p.Gln1074Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903786]	Chr5:141527626 [GRCh38] Chr5:140907193 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002026119]\|DIAPH1-related disorder [RCV003402061]	Chr5:141574995 [GRCh38] Chr5:140954562 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001973803]	Chr5:141573832 [GRCh38] Chr5:140953399 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2974A>G (p.Arg992Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002012413]	Chr5:141528746 [GRCh38] Chr5:140908313 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001930547]\|Inborn genetic diseases [RCV002556400]	Chr5:141583281 [GRCh38] Chr5:140962848 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001916869]	Chr5:141529629 [GRCh38] Chr5:140909196 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.468G>T (p.Leu156Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001917826]	Chr5:141583550 [GRCh38] Chr5:140963117 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.308T>C (p.Met103Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002010038]	Chr5:141584218 [GRCh38] Chr5:140963785 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001919830]	Chr5:141587089 [GRCh38] Chr5:140966656 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002050085]	Chr5:141572030 [GRCh38] Chr5:140951597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3331A>T (p.Met1111Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001973485]	Chr5:141526404 [GRCh38] Chr5:140905971 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001902144]	Chr5:141573614 [GRCh38] Chr5:140953181 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1397-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001883216]	Chr5:141576297 [GRCh38] Chr5:140955864 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001994060]\|not provided [RCV003442986]	Chr5:141577493 [GRCh38] Chr5:140957060 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001979609]	Chr5:141516852 [GRCh38] Chr5:140896419 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002029457]	Chr5:141573801..141573802 [GRCh38] Chr5:140953368..140953369 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001923402]	Chr5:141579082 [GRCh38] Chr5:140958649 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-11T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002148236]	Chr5:141517019 [GRCh38] Chr5:140896586 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.403-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002076376]	Chr5:141583626 [GRCh38] Chr5:140963193 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.250T>C (p.Leu84=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002105249]	Chr5:141587092 [GRCh38] Chr5:140966659 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-17T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002085253]	Chr5:141527714 [GRCh38] Chr5:140907281 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2778+20G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002073748]	Chr5:141529152 [GRCh38] Chr5:140908719 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002207262]	Chr5:141529284 [GRCh38] Chr5:140908851 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1821T>G (p.Thr607=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002191035]	Chr5:141574029 [GRCh38] Chr5:140953596 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1755C>T (p.Ala585=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002170202]	Chr5:141574095 [GRCh38] Chr5:140953662 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-19T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002086570]	Chr5:141527716 [GRCh38] Chr5:140907283 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2502T>C (p.Gly834=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002127865]	Chr5:141534414 [GRCh38] Chr5:140913981 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-14T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002205102]	Chr5:141527711 [GRCh38] Chr5:140907278 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+11T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002106539]	Chr5:141527562 [GRCh38] Chr5:140907129 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002164909]	Chr5:141588210 [GRCh38] Chr5:140967777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2025C>T (p.Ile675=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002145192]	Chr5:141573825 [GRCh38] Chr5:140953392 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1641+7C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002190052]	Chr5:141574960 [GRCh38] Chr5:140954527 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.546A>G (p.Thr182=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002187884]	Chr5:141583280 [GRCh38] Chr5:140962847 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002185499]	Chr5:141534442 [GRCh38] Chr5:140914009 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2547A>G (p.Leu849=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002186300]	Chr5:141534369 [GRCh38] Chr5:140913936 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2568A>G (p.Thr856=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002110237]	Chr5:141534348 [GRCh38] Chr5:140913915 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-12dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002126846]	Chr5:141587208..141587209 [GRCh38] Chr5:140966775..140966776 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2358+7G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002189271]	Chr5:141573485 [GRCh38] Chr5:140953052 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.999C>T (p.His333=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002125661]	Chr5:141578560 [GRCh38] Chr5:140958127 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1635A>C (p.Thr545=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002127047]	Chr5:141574973 [GRCh38] Chr5:140954540 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002207410]	Chr5:141584108 [GRCh38] Chr5:140963675 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.726A>C (p.Leu242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002072422]	Chr5:141580842 [GRCh38] Chr5:140960409 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2589T>C (p.Phe863=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002124300]	Chr5:141529690 [GRCh38] Chr5:140909257 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2622T>A (p.Ile874=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002105502]	Chr5:141529657 [GRCh38] Chr5:140909224 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2676+8G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002147003]	Chr5:141529595 [GRCh38] Chr5:140909162 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002125148]	Chr5:141524127 [GRCh38] Chr5:140903694 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.759C>T (p.Pro253=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002125120]	Chr5:141580809 [GRCh38] Chr5:140960376 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002167289]	Chr5:141571418 [GRCh38] Chr5:140950985 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.27G>A (p.Gly9=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002210099]	Chr5:141618888 [GRCh38] Chr5:140998455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-20G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002127824]	Chr5:141579216 [GRCh38] Chr5:140958783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+18A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002165884]	Chr5:141576212 [GRCh38] Chr5:140955779 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.301-4C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002169334]	Chr5:141584229 [GRCh38] Chr5:140963796 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+19G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002107336]	Chr5:141588205 [GRCh38] Chr5:140967772 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+16del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002087192]	Chr5:141528437 [GRCh38] Chr5:140908004 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.348G>A (p.Lys116=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002192207]	Chr5:141584178 [GRCh38] Chr5:140963745 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-17del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002210056]	Chr5:141528599 [GRCh38] Chr5:140908166 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1587A>G (p.Gln529=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002210518]	Chr5:141575021 [GRCh38] Chr5:140954588 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002174153]	Chr5:141517014 [GRCh38] Chr5:140896581 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-17C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002111021]	Chr5:141517025 [GRCh38] Chr5:140896592 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3149-14_3149-13insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002113343]	Chr5:141527710..141527711 [GRCh38] Chr5:140907277..140907278 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2988T>A (p.Ala996=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002080227]	Chr5:141528732 [GRCh38] Chr5:140908299 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1239C>T (p.Ile413=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002194515]	Chr5:141577516 [GRCh38] Chr5:140957083 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.69A>T (p.Pro23=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002113110]	Chr5:141618846 [GRCh38] Chr5:140998413 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2779-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002097178]	Chr5:141528961 [GRCh38] Chr5:140908528 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1029A>G (p.Leu343=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002093367]	Chr5:141578530 [GRCh38] Chr5:140958097 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+14_402+33del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002094798]	Chr5:141584091..141584110 [GRCh38] Chr5:140963658..140963677 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215992]	Chr5:141579211 [GRCh38] Chr5:140958778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002135216]	Chr5:141526022 [GRCh38] Chr5:140905589 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3726C>G (p.Ala1242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002171563]	Chr5:141516944 [GRCh38] Chr5:140896511 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+19_1461+20delinsGA	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV002134730]	Chr5:141576210..141576211 [GRCh38] Chr5:140955777..140955778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116930]	Chr5:141575157 [GRCh38] Chr5:140954724 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-20del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002145550]	Chr5:141572060 [GRCh38] Chr5:140951627 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+17A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002115408]	Chr5:141573475 [GRCh38] Chr5:140953042 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-10T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002079479]	Chr5:141526471 [GRCh38] Chr5:140906038 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-19T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002078111]	Chr5:141575165 [GRCh38] Chr5:140954732 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1212A>G (p.Ser404=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002095231]	Chr5:141577543 [GRCh38] Chr5:140957110 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1488T>C (p.His496=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215201]	Chr5:141575120 [GRCh38] Chr5:140954687 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-18_3149-17insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116910]	Chr5:141527714..141527715 [GRCh38] Chr5:140907281..140907282 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3519G>A (p.Glu1173=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215120]\|not provided [RCV003426306]	Chr5:141526093 [GRCh38] Chr5:140905660 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.54G>A (p.Lys18=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002192763]	Chr5:141618861 [GRCh38] Chr5:140998428 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2640G>A (p.Glu880=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002193748]	Chr5:141529639 [GRCh38] Chr5:140909206 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-20_3149-19insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215148]	Chr5:141527716..141527717 [GRCh38] Chr5:140907283..140907284 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-16C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002129032]	Chr5:141528598 [GRCh38] Chr5:140908165 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.533+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002112826]	Chr5:141583474 [GRCh38] Chr5:140963041 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2217T>G (p.Pro739=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002187129]	Chr5:141573633 [GRCh38] Chr5:140953200 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2208T>C (p.Pro736=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002109456]	Chr5:141573642 [GRCh38] Chr5:140953209 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+14C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002079492]	Chr5:141579074 [GRCh38] Chr5:140958641 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.942C>T (p.Cys314=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173050]	Chr5:141578617 [GRCh38] Chr5:140958184 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-18C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173635]	Chr5:141588268 [GRCh38] Chr5:140967835 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-17A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002147934]	Chr5:141534450 [GRCh38] Chr5:140914017 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3633A>T (p.Ala1211=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002089985]	Chr5:141524171 [GRCh38] Chr5:140903738 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1842T>G (p.Pro614=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002077684]	Chr5:141574008 [GRCh38] Chr5:140953575 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002212133]	Chr5:141579212 [GRCh38] Chr5:140958779 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3132G>C (p.Val1044=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116400]	Chr5:141528469 [GRCh38] Chr5:140908036 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2256A>T (p.Pro752=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002086292]	Chr5:141573594 [GRCh38] Chr5:140953161 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-15dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173838]	Chr5:141575160..141575161 [GRCh38] Chr5:140954727..140954728 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-13T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116664]	Chr5:141527710 [GRCh38] Chr5:140907277 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.939A>G (p.Gly313=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116890]	Chr5:141578620 [GRCh38] Chr5:140958187 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1674C>T (p.Ala558=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002115637]	Chr5:141574176 [GRCh38] Chr5:140953743 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1281-20C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173902]	Chr5:141576891 [GRCh38] Chr5:140956458 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1167C>T (p.Asp389=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002148807]	Chr5:141577588 [GRCh38] Chr5:140957155 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.213T>C (p.Ser71=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002105200]	Chr5:141587129 [GRCh38] Chr5:140966696 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103885]	Chr5:141576307 [GRCh38] Chr5:140955874 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2292A>G (p.Pro764=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103937]	Chr5:141573558 [GRCh38] Chr5:140953125 [GRCh37] Chr5:5q31.3	likely benign
Single allele	deletion	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV002227585]	Chr5:141572725..141615700 [GRCh38] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1641+7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002218714]	Chr5:141574960 [GRCh38] Chr5:140954527 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3030C>G (p.Thr1010=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002098347]	Chr5:141528571 [GRCh38] Chr5:140908138 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002136028]	Chr5:141571908 [GRCh38] Chr5:140951475 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2931A>G (p.Leu977=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002137665]	Chr5:141528789 [GRCh38] Chr5:140908356 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1280+15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002136315]	Chr5:141577460 [GRCh38] Chr5:140957027 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2010T>C (p.Pro670=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002217863]	Chr5:141573840 [GRCh38] Chr5:140953407 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-14C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002140675]	Chr5:141529287 [GRCh38] Chr5:140908854 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002161273]	Chr5:141527562 [GRCh38] Chr5:140907129 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.738A>G (p.Arg246=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002218390]	Chr5:141580830 [GRCh38] Chr5:140960397 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1377T>A (p.Ile459=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002218289]	Chr5:141576775 [GRCh38] Chr5:140956342 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-10G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002199680]	Chr5:141580893 [GRCh38] Chr5:140960460 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3330C>T (p.Asn1110=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002181053]	Chr5:141526405 [GRCh38] Chr5:140905972 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+19C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002144563]	Chr5:141571409 [GRCh38] Chr5:140950976 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002160012]	Chr5:141574217 [GRCh38] Chr5:140953784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2100T>C (p.Ile700=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002142955]	Chr5:141573750 [GRCh38] Chr5:140953317 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-7dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002117886]	Chr5:141575152..141575153 [GRCh38] Chr5:140954719..140954720 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.621-18T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002081856]	Chr5:141582393 [GRCh38] Chr5:140961960 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002143614]	Chr5:141517015 [GRCh38] Chr5:140896582 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002100825]	Chr5:141573809 [GRCh38] Chr5:140953376 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1683A>G (p.Glu561=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002100826]	Chr5:141574167 [GRCh38] Chr5:140953734 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002204547]	Chr5:141573997..141574017 [GRCh38] Chr5:140953564..140953584 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1281-20C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002098962]	Chr5:141576891 [GRCh38] Chr5:140956458 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2103C>G (p.Pro701=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002204716]	Chr5:141573747 [GRCh38] Chr5:140953314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.934-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103102]	Chr5:141578631 [GRCh38] Chr5:140958198 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-4C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002176713]	Chr5:141575150 [GRCh38] Chr5:140954717 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.246G>A (p.Gln82=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002157476]	Chr5:141587096 [GRCh38] Chr5:140966663 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3198T>C (p.Ile1066=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002162590]\|not specified [RCV004801163]	Chr5:141527648 [GRCh38] Chr5:140907215 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-19A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002082929]	Chr5:141572059 [GRCh38] Chr5:140951626 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.630T>C (p.Asp210=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002157629]	Chr5:141582366 [GRCh38] Chr5:140961933 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1704A>G (p.Ala568=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002097846]	Chr5:141574146 [GRCh38] Chr5:140953713 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2487G>A (p.Lys829=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002137426]	Chr5:141534429 [GRCh38] Chr5:140913996 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1126C>T (p.Leu376=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002179064]	Chr5:141578262 [GRCh38] Chr5:140957829 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3156T>G (p.Ala1052=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002162983]	Chr5:141527690 [GRCh38] Chr5:140907257 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-9T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002083498]	Chr5:141572049 [GRCh38] Chr5:140951616 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.711A>G (p.Thr237=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002182640]	Chr5:141580857 [GRCh38] Chr5:140960424 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.9G>C (p.Pro3=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002144518]	Chr5:141618906 [GRCh38] Chr5:140998473 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.684+18C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002098314]	Chr5:141582294 [GRCh38] Chr5:140961861 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.534-17C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002135928]	Chr5:141583309 [GRCh38] Chr5:140962876 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2649G>A (p.Glu883=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103847]	Chr5:141529630 [GRCh38] Chr5:140909197 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002118477]	Chr5:141572056 [GRCh38] Chr5:140951623 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.574T>C (p.Leu192=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002158573]	Chr5:141583252 [GRCh38] Chr5:140962819 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.180G>A (p.Glu60=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002120711]	Chr5:141587162 [GRCh38] Chr5:140966729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-13G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002202582]	Chr5:141575159 [GRCh38] Chr5:140954726 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1935G>A (p.Leu645=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002122482]	Chr5:141573915 [GRCh38] Chr5:140953482 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.90C>G (p.Gly30=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002175217]	Chr5:141618825 [GRCh38] Chr5:140998392 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1458G>A (p.Lys486=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002153922]\|not provided [RCV005232894]	Chr5:141576233 [GRCh38] Chr5:140955800 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3018+16A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002203427]	Chr5:141528686 [GRCh38] Chr5:140908253 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-37TTGGTC[4]	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002202067]	Chr5:141526480..141526481 [GRCh38] Chr5:140906047..140906048 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1045-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002199898]	Chr5:141578359 [GRCh38] Chr5:140957926 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+12C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002183337]	Chr5:141524131 [GRCh38] Chr5:140903698 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2433T>G (p.Leu811=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002219092]	Chr5:141571966 [GRCh38] Chr5:140951533 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-15T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002123452]	Chr5:141527712 [GRCh38] Chr5:140907279 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002154855]	Chr5:141579074 [GRCh38] Chr5:140958641 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1116T>C (p.Asp372=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002102834]	Chr5:141578272 [GRCh38] Chr5:140957839 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002101095]	Chr5:141588216 [GRCh38] Chr5:140967783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3117C>T (p.Asp1039=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002204701]	Chr5:141528484 [GRCh38] Chr5:140908051 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002184381]	Chr5:141582384 [GRCh38] Chr5:140961951 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.990C>T (p.Phe330=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002161324]	Chr5:141578569 [GRCh38] Chr5:140958136 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+14A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002182819]	Chr5:141583192 [GRCh38] Chr5:140962759 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2779-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003110643]	Chr5:141528955 [GRCh38] Chr5:140908522 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3168A>G (p.Gln1056=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003110226]\|DIAPH1-related disorder [RCV004753658]	Chr5:141527678 [GRCh38] Chr5:140907245 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003111838]	Chr5:141529674 [GRCh38] Chr5:140909241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003112231]	Chr5:141526134 [GRCh38] Chr5:140905701 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.144+18A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003118533]	Chr5:141588206 [GRCh38] Chr5:140967773 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2053G>A (p.Ala685Thr)	single nucleotide variant	not provided [RCV004784528]	Chr5:141573797 [GRCh38] Chr5:140953364 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003105169]	Chr5:141573998 [GRCh38] Chr5:140953565 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3111T>A (p.Phe1037Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005225579]\|See cases [RCV002252389]	Chr5:141528490 [GRCh38] Chr5:140908057 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.503T>C (p.Leu168Pro)	single nucleotide variant	not provided [RCV002276138]	Chr5:141583515 [GRCh38] Chr5:140963082 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002573630]\|not provided [RCV002474130]	Chr5:141526148 [GRCh38] Chr5:140905715 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002299931]	Chr5:141573814 [GRCh38] Chr5:140953381 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1784T>G (p.Ile595Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304146]	Chr5:141574066 [GRCh38] Chr5:140953633 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002295031]	Chr5:141578525 [GRCh38] Chr5:140958092 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3659A>G (p.Gln1220Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002296149]\|Inborn genetic diseases [RCV003102251]	Chr5:141524145 [GRCh38] Chr5:140903712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298017]\|Inborn genetic diseases [RCV004973423]	Chr5:141573521 [GRCh38] Chr5:140953088 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1369C>T (p.Leu457Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298250]	Chr5:141576783 [GRCh38] Chr5:140956350 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1154T>C (p.Met385Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304872]	Chr5:141578234 [GRCh38] Chr5:140957801 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3001A>G (p.Ile1001Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002295741]	Chr5:141528719 [GRCh38] Chr5:140908286 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298354]	Chr5:141578559 [GRCh38] Chr5:140958126 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.16G>A (p.Gly6Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002301871]	Chr5:141618899 [GRCh38] Chr5:140998466 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002305003]	Chr5:141516976 [GRCh38] Chr5:140896543 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002303651]	Chr5:141578312 [GRCh38] Chr5:140957879 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1802C>G (p.Ala601Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002303861]	Chr5:141574048 [GRCh38] Chr5:140953615 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003775023]\|not provided [RCV002308902]	Chr5:141571938 [GRCh38] Chr5:140951505 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3308A>G (p.Lys1103Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002296248]	Chr5:141526427 [GRCh38] Chr5:140905994 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002299621]	Chr5:141571938 [GRCh38] Chr5:140951505 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304409]	Chr5:141618909 [GRCh38] Chr5:140998476 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304112]	Chr5:141529694 [GRCh38] Chr5:140909261 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298027]	Chr5:141534421 [GRCh38] Chr5:140913988 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298957]	Chr5:141574009 [GRCh38] Chr5:140953576 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002299095]	Chr5:141573793 [GRCh38] Chr5:140953360 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1371C>T (p.Leu457=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002838360]	Chr5:141576781 [GRCh38] Chr5:140956348 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2702C>T (p.Pro901Leu)	single nucleotide variant	not provided [RCV002462489]	Chr5:141529248 [GRCh38] Chr5:140908815 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3152C>G (p.Ser1051Cys)	single nucleotide variant	Inborn genetic diseases [RCV002749746]	Chr5:141527694 [GRCh38] Chr5:140907261 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003012352]	Chr5:141618872 [GRCh38] Chr5:140998439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002774932]	Chr5:141571456 [GRCh38] Chr5:140951023 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3017A>G (p.Lys1006Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002750276]	Chr5:141528703 [GRCh38] Chr5:140908270 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3645G>A (p.Lys1215=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002861997]	Chr5:141524159 [GRCh38] Chr5:140903726 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1843C>T (p.Pro615Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002750875]	Chr5:141574007 [GRCh38] Chr5:140953574 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003074462]	Chr5:141573989 [GRCh38] Chr5:140953556 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+7T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002903613]	Chr5:141578508 [GRCh38] Chr5:140958075 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003075380]	Chr5:141574088 [GRCh38] Chr5:140953655 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.256G>C (p.Asp86His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002967444]	Chr5:141587086 [GRCh38] Chr5:140966653 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-13C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003013650]	Chr5:141582388 [GRCh38] Chr5:140961955 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.258T>C (p.Asp86=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002904821]	Chr5:141587084 [GRCh38] Chr5:140966651 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002970915]	Chr5:141524129 [GRCh38] Chr5:140903696 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003076459]	Chr5:141573688 [GRCh38] Chr5:140953255 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002975088]	Chr5:141577591 [GRCh38] Chr5:140957158 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1756C>T (p.Pro586Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002614591]	Chr5:141574094 [GRCh38] Chr5:140953661 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2448C>G (p.Thr816=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016885]	Chr5:141571951 [GRCh38] Chr5:140951518 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2511A>G (p.Glu837=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002843025]	Chr5:141534405 [GRCh38] Chr5:140913972 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2439C>T (p.Ala813=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016917]	Chr5:141571960 [GRCh38] Chr5:140951527 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-15C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002908590]	Chr5:141517023 [GRCh38] Chr5:140896590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2554T>C (p.Leu852=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003099005]	Chr5:141534362 [GRCh38] Chr5:140913929 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003012221]	Chr5:141573498..141573499 [GRCh38] Chr5:140953065..140953066 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3591T>A (p.Gly1197=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002975427]	Chr5:141524213 [GRCh38] Chr5:140903780 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002861888]	Chr5:141574013..141574014 [GRCh38] Chr5:140953580..140953581 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2915G>A (p.Ser972Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002618027]	Chr5:141528805 [GRCh38] Chr5:140908372 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002996830]	Chr5:141580807 [GRCh38] Chr5:140960374 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002685830]	Chr5:141573607 [GRCh38] Chr5:140953174 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016912]	Chr5:141573544 [GRCh38] Chr5:140953111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003034128]	Chr5:141577490 [GRCh38] Chr5:140957057 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-20T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003032374]	Chr5:141587217 [GRCh38] Chr5:140966784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002971400]\|not provided [RCV004765609]	Chr5:141580759 [GRCh38] Chr5:140960326 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.120T>A (p.Thr40=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002816210]	Chr5:141588248 [GRCh38] Chr5:140967815 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1494A>G (p.Leu498=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002881976]	Chr5:141575114 [GRCh38] Chr5:140954681 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2367T>G (p.Ala789=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002863016]	Chr5:141572032 [GRCh38] Chr5:140951599 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002681626]	Chr5:141587100 [GRCh38] Chr5:140966667 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2949T>A (p.Val983=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002681643]	Chr5:141528771 [GRCh38] Chr5:140908338 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002842359]	Chr5:141528911 [GRCh38] Chr5:140908478 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002616656]	Chr5:141573517 [GRCh38] Chr5:140953084 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-7G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002863671]	Chr5:141526468 [GRCh38] Chr5:140906035 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1617A>G (p.Ala539=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002863488]	Chr5:141574991 [GRCh38] Chr5:140954558 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-17T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002755071]	Chr5:141587214 [GRCh38] Chr5:140966781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-18C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002994165]	Chr5:141588268 [GRCh38] Chr5:140967835 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002751325]	Chr5:141618789 [GRCh38] Chr5:140998356 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-11C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003033888]	Chr5:141529284 [GRCh38] Chr5:140908851 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002819260]	Chr5:141572025 [GRCh38] Chr5:140951592 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.915A>G (p.Gly305=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003012411]	Chr5:141579106 [GRCh38] Chr5:140958673 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002756407]	Chr5:141517011 [GRCh38] Chr5:140896578 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002839545]\|Inborn genetic diseases [RCV002846445]	Chr5:141574001 [GRCh38] Chr5:140953568 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3247A>G (p.Lys1083Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002838790]	Chr5:141527599 [GRCh38] Chr5:140907166 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.501C>T (p.Ser167=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002690280]	Chr5:141583517 [GRCh38] Chr5:140963084 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1368C>T (p.His456=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016797]	Chr5:141576784 [GRCh38] Chr5:140956351 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002774794]	Chr5:141588204 [GRCh38] Chr5:140967771 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3182A>C (p.Gln1061Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002819509]	Chr5:141527664 [GRCh38] Chr5:140907231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2582-18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003038249]	Chr5:141529715 [GRCh38] Chr5:140909282 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002927860]	Chr5:141528569 [GRCh38] Chr5:140908136 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1021T>C (p.Leu341=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003021831]	Chr5:141578538 [GRCh38] Chr5:140958105 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2454C>T (p.Thr818=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003081684]	Chr5:141571945 [GRCh38] Chr5:140951512 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003021495]	Chr5:141573775 [GRCh38] Chr5:140953342 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-4C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002847875]	Chr5:141577595 [GRCh38] Chr5:140957162 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3223A>C (p.Asn1075His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002696325]	Chr5:141527623 [GRCh38] Chr5:140907190 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003077682]\|not provided [RCV003143468]	Chr5:141574024 [GRCh38] Chr5:140953591 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-6A>G	single nucleotide variant	Inborn genetic diseases [RCV002708193]	Chr5:141582381 [GRCh38] Chr5:140961948 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1567C>T (p.Leu523=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002825078]	Chr5:141575041 [GRCh38] Chr5:140954608 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+15C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003039449]	Chr5:141526023 [GRCh38] Chr5:140905590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003000009]	Chr5:141528461 [GRCh38] Chr5:140908028 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003003079]	Chr5:141618868 [GRCh38] Chr5:140998435 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.228G>A (p.Gly76=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002695926]	Chr5:141587114 [GRCh38] Chr5:140966681 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2175A>G (p.Gly725=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002797014]	Chr5:141573675 [GRCh38] Chr5:140953242 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+8G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002912945]	Chr5:141526030 [GRCh38] Chr5:140905597 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003771994]\|not provided [RCV001756815]	Chr5:141573994 [GRCh38] Chr5:140953561 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001915563]\|DIAPH1-related disorder [RCV003416572]	Chr5:141577497 [GRCh38] Chr5:140957064 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1068A>G (p.Glu356=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002022027]	Chr5:141578320 [GRCh38] Chr5:140957887 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.352A>G (p.Ile118Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001946008]	Chr5:141584174 [GRCh38] Chr5:140963741 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1927C>T (p.Pro643Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001953303]	Chr5:141573923 [GRCh38] Chr5:140953490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001954639]\|Inborn genetic diseases [RCV002560413]	Chr5:141587062 [GRCh38] Chr5:140966629 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002049721]	Chr5:141587118 [GRCh38] Chr5:140966685 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-5T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002110082]	Chr5:141526466 [GRCh38] Chr5:140906033 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1806T>G (p.Pro602=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002174169]	Chr5:141574044 [GRCh38] Chr5:140953611 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2994C>T (p.Gly998=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002185160]	Chr5:141528726 [GRCh38] Chr5:140908293 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1350T>C (p.Pro450=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002155780]	Chr5:141576802 [GRCh38] Chr5:140956369 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1590T>C (p.Ile530=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002181577]	Chr5:141575018 [GRCh38] Chr5:140954585 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.243A>C (p.Ala81=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002083707]	Chr5:141587099 [GRCh38] Chr5:140966666 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.684+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002881758]	Chr5:141582309 [GRCh38] Chr5:140961876 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3655dup (p.Arg1219fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002880613]	Chr5:141524148..141524149 [GRCh38] Chr5:140903715..140903716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777915]\|Inborn genetic diseases [RCV002905303]\|not provided [RCV004593190]\|not specified [RCV003226572]	Chr5:141573923 [GRCh38] Chr5:140953490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3575-9T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002861995]	Chr5:141524238 [GRCh38] Chr5:140903805 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+13A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002847690]	Chr5:141524130 [GRCh38] Chr5:140903697 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1962C>G (p.Pro654=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002706146]	Chr5:141573888 [GRCh38] Chr5:140953455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3084G>A (p.Glu1028=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003018688]	Chr5:141528517 [GRCh38] Chr5:140908084 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002705600]	Chr5:141571923 [GRCh38] Chr5:140951490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1894T>C (p.Ser632Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002591347]	Chr5:141573956 [GRCh38] Chr5:140953523 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1830T>C (p.Pro610=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002867407]	Chr5:141574020 [GRCh38] Chr5:140953587 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-5A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002979389]	Chr5:141580888 [GRCh38] Chr5:140960455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002591392]	Chr5:141573718 [GRCh38] Chr5:140953285 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002843932]	Chr5:141577487 [GRCh38] Chr5:140957054 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1637G>A (p.Gly546Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002736541]	Chr5:141574971 [GRCh38] Chr5:140954538 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003036447]	Chr5:141534409 [GRCh38] Chr5:140913976 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2460T>G (p.Ser820=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002866705]	Chr5:141571939 [GRCh38] Chr5:140951506 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2808C>A (p.Arg936=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002690804]\|DIAPH1-related disorder [RCV004753576]	Chr5:141528912 [GRCh38] Chr5:140908479 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002658994]	Chr5:141528455 [GRCh38] Chr5:140908022 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1639G>A (p.Glu547Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002796409]	Chr5:141574969 [GRCh38] Chr5:140954536 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-10del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002619645]	Chr5:141534443 [GRCh38] Chr5:140914010 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003078201]	Chr5:141526146 [GRCh38] Chr5:140905713 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-5C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002662334]	Chr5:141572045 [GRCh38] Chr5:140951612 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3704C>T (p.Ser1235Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209591]\|Inborn genetic diseases [RCV002978118]	Chr5:141516966 [GRCh38] Chr5:140896533 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2106C>A (p.Pro702=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002619425]	Chr5:141573744 [GRCh38] Chr5:140953311 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002735083]	Chr5:141534364 [GRCh38] Chr5:140913931 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002637657]	Chr5:141516994 [GRCh38] Chr5:140896561 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003080885]	Chr5:141582385 [GRCh38] Chr5:140961952 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+20_2358+23del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002927361]	Chr5:141573469..141573472 [GRCh38] Chr5:140953036..140953039 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3576G>A (p.Glu1192=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002866608]	Chr5:141524228 [GRCh38] Chr5:140903795 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1891C>A (p.Pro631Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002662467]	Chr5:141573959 [GRCh38] Chr5:140953526 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3063C>T (p.His1021=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002927574]	Chr5:141528538 [GRCh38] Chr5:140908105 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.96C>T (p.Asp32=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002885178]	Chr5:141618819 [GRCh38] Chr5:140998386 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+3A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003035276]	Chr5:141579085 [GRCh38] Chr5:140958652 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1768G>A (p.Gly590Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002795135]	Chr5:141574082 [GRCh38] Chr5:140953649 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1805C>T (p.Pro602Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002705906]	Chr5:141574045 [GRCh38] Chr5:140953612 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003079815]\|Inborn genetic diseases [RCV004978569]	Chr5:141528755 [GRCh38] Chr5:140908322 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.30C>T (p.Pro10=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002791533]	Chr5:141618885 [GRCh38] Chr5:140998452 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002932247]	Chr5:141580898 [GRCh38] Chr5:140960465 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1163+14dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002851451]	Chr5:141578210..141578211 [GRCh38] Chr5:140957777..140957778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002958992]	Chr5:141534428 [GRCh38] Chr5:140913995 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003042581]	Chr5:141577525 [GRCh38] Chr5:140957092 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3351G>A (p.Glu1117=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002876286]	Chr5:141526384 [GRCh38] Chr5:140905951 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3575-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002894635]	Chr5:141524243 [GRCh38] Chr5:140903810 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2103C>A (p.Pro701=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002929185]	Chr5:141573747 [GRCh38] Chr5:140953314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003024617]	Chr5:141573883 [GRCh38] Chr5:140953450 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002595897]	Chr5:141576252 [GRCh38] Chr5:140955819 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003026036]	Chr5:141587149 [GRCh38] Chr5:140966716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1096G>C (p.Asp366His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003005088]	Chr5:141578292 [GRCh38] Chr5:140957859 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1386G>A (p.Glu462=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002574412]	Chr5:141576766 [GRCh38] Chr5:140956333 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003039921]	Chr5:141528776 [GRCh38] Chr5:140908343 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002872286]	Chr5:141584238 [GRCh38] Chr5:140963805 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1779C>T (p.Gly593=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002890804]	Chr5:141574071 [GRCh38] Chr5:140953638 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1744G>A (p.Val582Ile)	single nucleotide variant	not provided [RCV002508585]	Chr5:141574106 [GRCh38] Chr5:140953673 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2682C>T (p.Leu894=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002917548]	Chr5:141529268 [GRCh38] Chr5:140908835 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2178C>T (p.Ile726=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002828581]	Chr5:141573672 [GRCh38] Chr5:140953239 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002928975]	Chr5:141584104 [GRCh38] Chr5:140963671 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1496A>G (p.Gln499Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002700251]	Chr5:141575112 [GRCh38] Chr5:140954679 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3438+14A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002957517]	Chr5:141526283 [GRCh38] Chr5:140905850 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1787T>C (p.Ile596Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002851681]	Chr5:141574063 [GRCh38] Chr5:140953630 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+2T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002852123]	Chr5:141529601 [GRCh38] Chr5:140909168 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2663A>C (p.Glu888Ala)	single nucleotide variant	Inborn genetic diseases [RCV002743703]	Chr5:141529616 [GRCh38] Chr5:140909183 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002625159]	Chr5:141573820 [GRCh38] Chr5:140953387 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003059519]	Chr5:141529674 [GRCh38] Chr5:140909241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.846A>G (p.Ala282=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003082474]	Chr5:141579175 [GRCh38] Chr5:140958742 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002851080]	Chr5:141618829 [GRCh38] Chr5:140998396 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1737T>G (p.Arg579=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002766023]	Chr5:141574113 [GRCh38] Chr5:140953680 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002800792]\|not provided [RCV004725379]	Chr5:141578337 [GRCh38] Chr5:140957904 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1641+14A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002710105]	Chr5:141574953 [GRCh38] Chr5:140954520 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1936_1971del (p.Ser646_Leu657del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002626931]	Chr5:141573879..141573914 [GRCh38] Chr5:140953446..140953481 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1130A>G (p.Lys377Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002625848]	Chr5:141578258 [GRCh38] Chr5:140957825 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.100G>A (p.Gly34Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002790318]	Chr5:141618815 [GRCh38] Chr5:140998382 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-23_3274-18dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003084965]	Chr5:141526478..141526479 [GRCh38] Chr5:140906045..140906046 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3094C>A (p.Pro1032Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002791273]	Chr5:141528507 [GRCh38] Chr5:140908074 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1569G>A (p.Leu523=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002875890]	Chr5:141575039 [GRCh38] Chr5:140954606 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002953997]	Chr5:141583590 [GRCh38] Chr5:140963157 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002643026]	Chr5:141587089 [GRCh38] Chr5:140966656 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3273+5C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003042574]	Chr5:141527568 [GRCh38] Chr5:140907135 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.978G>A (p.Glu326=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002894073]	Chr5:141578581 [GRCh38] Chr5:140958148 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3015T>C (p.Cys1005=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002931979]	Chr5:141528705 [GRCh38] Chr5:140908272 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.60C>G (p.Gly20=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002741302]	Chr5:141618855 [GRCh38] Chr5:140998422 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-22_1397-19del	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003042285]	Chr5:141576313..141576316 [GRCh38] Chr5:140955880..140955883 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+20A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002958109]	Chr5:141528433 [GRCh38] Chr5:140908000 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3594G>A (p.Val1198=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002710633]	Chr5:141524210 [GRCh38] Chr5:140903777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002624822]	Chr5:141574123 [GRCh38] Chr5:140953690 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002644397]	Chr5:141573979 [GRCh38] Chr5:140953546 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3660A>G (p.Gln1220=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002917423]	Chr5:141524144 [GRCh38] Chr5:140903711 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002646448]	Chr5:141528947 [GRCh38] Chr5:140908514 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002651263]	Chr5:141516852 [GRCh38] Chr5:140896419 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003061913]	Chr5:141584236 [GRCh38] Chr5:140963803 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002720941]	Chr5:141573706 [GRCh38] Chr5:140953273 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-16T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002967195]	Chr5:141517024 [GRCh38] Chr5:140896591 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003065294]	Chr5:141573833 [GRCh38] Chr5:140953400 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.403-11C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003064980]	Chr5:141583626 [GRCh38] Chr5:140963193 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002833187]	Chr5:141580811 [GRCh38] Chr5:140960378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002671343]	Chr5:141575125 [GRCh38] Chr5:140954692 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2928C>G (p.Leu976=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002628850]	Chr5:141528792 [GRCh38] Chr5:140908359 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003049294]	Chr5:141588228 [GRCh38] Chr5:140967795 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003048472]	Chr5:141516977 [GRCh38] Chr5:140896544 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003028508]	Chr5:141527634..141527635 [GRCh38] Chr5:140907201..140907202 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002806442]	Chr5:141573990..141573991 [GRCh38] Chr5:140953557..140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003046922]	Chr5:141587109 [GRCh38] Chr5:140966676 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+20C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003065606]	Chr5:141618778 [GRCh38] Chr5:140998345 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002629606]	Chr5:141576869 [GRCh38] Chr5:140956436 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.36C>T (p.Arg12=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002629949]	Chr5:141618879 [GRCh38] Chr5:140998446 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002899651]	Chr5:141528593 [GRCh38] Chr5:140908160 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.927A>T (p.Ala309=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003027821]	Chr5:141579094 [GRCh38] Chr5:140958661 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.717A>G (p.Glu239=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003027828]	Chr5:141580851 [GRCh38] Chr5:140960418 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2751G>T (p.Leu917=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002807098]	Chr5:141529199 [GRCh38] Chr5:140908766 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1724C>T (p.Ser575Phe)	single nucleotide variant	Inborn genetic diseases [RCV002855979]	Chr5:141574126 [GRCh38] Chr5:140953693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002895913]	Chr5:141529695 [GRCh38] Chr5:140909262 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-15_3149-14insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002628335]	Chr5:141527711..141527712 [GRCh38] Chr5:140907278..140907279 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.892C>T (p.Leu298=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002807157]	Chr5:141579129 [GRCh38] Chr5:140958696 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002578723]\|not provided [RCV004790221]	Chr5:141528781 [GRCh38] Chr5:140908348 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3651G>A (p.Gly1217=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003010234]	Chr5:141524153 [GRCh38] Chr5:140903720 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002922027]	Chr5:141576833 [GRCh38] Chr5:140956400 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1737T>C (p.Arg579=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002835021]	Chr5:141574113 [GRCh38] Chr5:140953680 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.41C>T (p.Thr14Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215950]\|Inborn genetic diseases [RCV002878725]	Chr5:141618874 [GRCh38] Chr5:140998441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2106C>T (p.Pro702=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002900537]	Chr5:141573744 [GRCh38] Chr5:140953311 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1044+9T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002627979]	Chr5:141578506 [GRCh38] Chr5:140958073 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003009911]	Chr5:141516852 [GRCh38] Chr5:140896419 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3574+15C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002600136]	Chr5:141526023 [GRCh38] Chr5:140905590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003046147]	Chr5:141574174 [GRCh38] Chr5:140953741 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.693C>T (p.Ile231=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002877554]	Chr5:141580875 [GRCh38] Chr5:140960442 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2799G>A (p.Leu933=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002856263]	Chr5:141528921 [GRCh38] Chr5:140908488 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.726A>G (p.Leu242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002811376]	Chr5:141580842 [GRCh38] Chr5:140960409 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3231A>C (p.Pro1077=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002937409]	Chr5:141527615 [GRCh38] Chr5:140907182 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3439C>G (p.Gln1147Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002810864]	Chr5:141526173 [GRCh38] Chr5:140905740 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2718G>T (p.Met906Ile)	single nucleotide variant	Inborn genetic diseases [RCV002669537]	Chr5:141529232 [GRCh38] Chr5:140908799 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003030233]	Chr5:141576860 [GRCh38] Chr5:140956427 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2064C>A (p.Pro688=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002895736]	Chr5:141573786 [GRCh38] Chr5:140953353 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777968]\|Inborn genetic diseases [RCV002935912]	Chr5:141618894 [GRCh38] Chr5:140998461 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2582-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002629310]	Chr5:141529708 [GRCh38] Chr5:140909275 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+7A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002806578]	Chr5:141579081 [GRCh38] Chr5:140958648 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002577477]	Chr5:141575095 [GRCh38] Chr5:140954662 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2719C>T (p.Leu907Phe)	single nucleotide variant	Inborn genetic diseases [RCV002669538]	Chr5:141529231 [GRCh38] Chr5:140908798 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3019-11_3019-10del	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003009912]	Chr5:141528592..141528593 [GRCh38] Chr5:140908159..140908160 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1173T>C (p.Asn391=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003028008]	Chr5:141577582 [GRCh38] Chr5:140957149 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1846C>T (p.Pro616Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002937836]	Chr5:141574004 [GRCh38] Chr5:140953571 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002647562]	Chr5:141527635 [GRCh38] Chr5:140907202 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1341G>A (p.Gly447=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002810204]	Chr5:141576811 [GRCh38] Chr5:140956378 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003031421]	Chr5:141580825 [GRCh38] Chr5:140960392 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1634C>T (p.Thr545Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002676437]	Chr5:141574974 [GRCh38] Chr5:140954541 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002856552]	Chr5:141573668 [GRCh38] Chr5:140953235 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2967T>C (p.Ala989=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002876981]	Chr5:141528753 [GRCh38] Chr5:140908320 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003026818]	Chr5:141528742 [GRCh38] Chr5:140908309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002599576]	Chr5:141573629 [GRCh38] Chr5:140953196 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002603365]	Chr5:141571940 [GRCh38] Chr5:140951507 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634138]	Chr5:141573758 [GRCh38] Chr5:140953325 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003051624]	Chr5:141582350 [GRCh38] Chr5:140961917 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1955C>T (p.Pro652Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002725454]	Chr5:141573895 [GRCh38] Chr5:140953462 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1630C>T (p.Leu544Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002635310]	Chr5:141574978 [GRCh38] Chr5:140954545 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003067046]	Chr5:141528952 [GRCh38] Chr5:140908519 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1150C>T (p.Arg384Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002583735]	Chr5:141578238 [GRCh38] Chr5:140957805 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002584834]\|not provided [RCV004725534]	Chr5:141528523 [GRCh38] Chr5:140908090 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003069365]	Chr5:141526053 [GRCh38] Chr5:140905620 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002814746]	Chr5:141618858..141618860 [GRCh38] Chr5:140998425..140998427 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3205G>A (p.Val1069Met)	single nucleotide variant	not provided [RCV003129398]	Chr5:141527641 [GRCh38] Chr5:140907208 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634595]	Chr5:141582369..141582370 [GRCh38] Chr5:140961936..140961937 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.423C>T (p.Ser141=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002943544]	Chr5:141583595 [GRCh38] Chr5:140963162 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002942871]	Chr5:141573697..141573699 [GRCh38] Chr5:140953264..140953266 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1908T>C (p.Gly636=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002653468]	Chr5:141573942 [GRCh38] Chr5:140953509 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+20C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002814440]	Chr5:141579068 [GRCh38] Chr5:140958635 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002585069]	Chr5:141534356 [GRCh38] Chr5:140913923 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003052535]	Chr5:141575132 [GRCh38] Chr5:140954699 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002721767]\|not provided [RCV003443072]	Chr5:141526121 [GRCh38] Chr5:140905688 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3138A>G (p.Lys1046=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002606780]	Chr5:141528463 [GRCh38] Chr5:140908030 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2757G>A (p.Glu919=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634390]	Chr5:141529193 [GRCh38] Chr5:140908760 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-14C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634402]	Chr5:141534447 [GRCh38] Chr5:140914014 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-13_3149-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003073497]	Chr5:141527700..141527710 [GRCh38] Chr5:140907267..140907277 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002585211]	Chr5:141574012 [GRCh38] Chr5:140953579 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3438+8dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002589193]	Chr5:141526288..141526289 [GRCh38] Chr5:140905855..140905856 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3575-13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003072420]	Chr5:141524242 [GRCh38] Chr5:140903809 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003093336]	Chr5:141576303 [GRCh38] Chr5:140955870 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1838C>G (p.Pro613Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002943402]	Chr5:141574012 [GRCh38] Chr5:140953579 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1600A>G (p.Lys534Glu)	single nucleotide variant	not provided [RCV004778295]	Chr5:141575008 [GRCh38] Chr5:140954575 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1512G>C (p.Lys504Asn)	single nucleotide variant	not provided [RCV003146082]	Chr5:141575096 [GRCh38] Chr5:140954663 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.92G>C (p.Gly31Ala)	single nucleotide variant	not provided [RCV003146085]	Chr5:141618823 [GRCh38] Chr5:140998390 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2294T>A (p.Phe765Tyr)	single nucleotide variant	not provided [RCV003225456]	Chr5:141573556 [GRCh38] Chr5:140953123 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777321]\|not provided [RCV003321388]	Chr5:141573547 [GRCh38] Chr5:140953114 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2236G>A (p.Gly746Ser)	single nucleotide variant	Inborn genetic diseases [RCV003357911]	Chr5:141573614 [GRCh38] Chr5:140953181 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2780T>C (p.Met927Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778051]\|Inborn genetic diseases [RCV003362443]	Chr5:141528940 [GRCh38] Chr5:140908507 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1627C>G (p.Gln543Glu)	single nucleotide variant	Inborn genetic diseases [RCV003386383]	Chr5:141574981 [GRCh38] Chr5:140954548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792018]	Chr5:141516895 [GRCh38] Chr5:140896462 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2241G>A (p.Met747Ile)	single nucleotide variant	DIAPH1-related disorder [RCV003391627]	Chr5:141573609 [GRCh38] Chr5:140953176 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791659]	Chr5:141571452 [GRCh38] Chr5:140951019 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+17T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790899]	Chr5:141528436 [GRCh38] Chr5:140908003 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1511del (p.Lys504fs)	deletion	DIAPH1-related disorder [RCV003404593]	Chr5:141575097 [GRCh38] Chr5:140954664 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1901C>T (p.Pro634Leu)	single nucleotide variant	DIAPH1-related disorder [RCV003412265]	Chr5:141573949 [GRCh38] Chr5:140953516 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3447C>G (p.Val1149=)	single nucleotide variant	not provided [RCV003429859]	Chr5:141526165 [GRCh38] Chr5:140905732 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778432]\|not provided [RCV003429860]	Chr5:141618903 [GRCh38] Chr5:140998470 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2143C>G (p.Pro715Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228030]\|DIAPH1-related disorder [RCV003417016]	Chr5:141573707 [GRCh38] Chr5:140953274 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1420G>A (p.Val474Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795009]\|Inborn genetic diseases [RCV004981034]	Chr5:141576271 [GRCh38] Chr5:140955838 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807622]	Chr5:141571943 [GRCh38] Chr5:140951510 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797401]	Chr5:141573778..141573816 [GRCh38] Chr5:140953345..140953383 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2482+17G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794738]	Chr5:141571411 [GRCh38] Chr5:140950978 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3321G>C (p.Met1107Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789789]	Chr5:141526414 [GRCh38] Chr5:140905981 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792333]	Chr5:141577544 [GRCh38] Chr5:140957111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3369C>T (p.Leu1123=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794823]	Chr5:141526366 [GRCh38] Chr5:140905933 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-15_3149-3dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797331]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+12_117+15del	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782083]	Chr5:141618783..141618786 [GRCh38] Chr5:140998350..140998353 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2007G>A (p.Leu669=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793681]	Chr5:141573843 [GRCh38] Chr5:140953410 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-15G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797478]	Chr5:141582390 [GRCh38] Chr5:140961957 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797483]	Chr5:141576224 [GRCh38] Chr5:140955791 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1677G>T (p.Lys559Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797731]	Chr5:141574173 [GRCh38] Chr5:140953740 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790787]	Chr5:141529671 [GRCh38] Chr5:140909238 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805305]	Chr5:141529667 [GRCh38] Chr5:140909234 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794018]	Chr5:141529673 [GRCh38] Chr5:140909240 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1348C>G (p.Pro450Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797353]	Chr5:141576804 [GRCh38] Chr5:140956371 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782370]	Chr5:141573617 [GRCh38] Chr5:140953184 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807602]	Chr5:141526105 [GRCh38] Chr5:140905672 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3304A>G (p.Asn1102Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797396]	Chr5:141526431 [GRCh38] Chr5:140905998 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796453]	Chr5:141587026 [GRCh38] Chr5:140966593 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1539T>G (p.Leu513=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795575]	Chr5:141575069 [GRCh38] Chr5:140954636 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3799T>C (p.Leu1267=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792973]	Chr5:141516871 [GRCh38] Chr5:140896438 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.48C>G (p.Asp16Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807727]	Chr5:141618867 [GRCh38] Chr5:140998434 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1311T>C (p.Cys437=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791668]	Chr5:141576841 [GRCh38] Chr5:140956408 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807981]	Chr5:141573634 [GRCh38] Chr5:140953201 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-9C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789089]	Chr5:141577600 [GRCh38] Chr5:140957167 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.255A>G (p.Gln85=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782890]	Chr5:141587087 [GRCh38] Chr5:140966654 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1742C>G (p.Pro581Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797116]	Chr5:141574108 [GRCh38] Chr5:140953675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-20T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791974]	Chr5:141587217 [GRCh38] Chr5:140966784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806178]	Chr5:141584183 [GRCh38] Chr5:140963750 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3183G>C (p.Gln1061His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797671]	Chr5:141527663 [GRCh38] Chr5:140907230 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.685-7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785486]	Chr5:141580890 [GRCh38] Chr5:140960457 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+15T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003786526]	Chr5:141580729 [GRCh38] Chr5:140960296 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797563]\|DIAPH1-related disorder [RCV003981130]	Chr5:141580832 [GRCh38] Chr5:140960399 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1396+7A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793488]	Chr5:141576749 [GRCh38] Chr5:140956316 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2705A>G (p.Glu902Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797571]	Chr5:141529245 [GRCh38] Chr5:140908812 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804456]	Chr5:141587029 [GRCh38] Chr5:140966596 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.62G>A (p.Arg21Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781869]	Chr5:141618853 [GRCh38] Chr5:140998420 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793666]	Chr5:141580811 [GRCh38] Chr5:140960378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2778+2dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804527]	Chr5:141529169..141529170 [GRCh38] Chr5:140908736..140908737 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794385]	Chr5:141529670 [GRCh38] Chr5:140909237 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795002]\|Inborn genetic diseases [RCV004614527]	Chr5:141573847 [GRCh38] Chr5:140953414 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1191C>G (p.Leu397=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789005]	Chr5:141577564 [GRCh38] Chr5:140957131 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.684+1G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790985]	Chr5:141582311 [GRCh38] Chr5:140961878 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1018C>G (p.Arg340Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791025]	Chr5:141578541 [GRCh38] Chr5:140958108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792208]	Chr5:141580828 [GRCh38] Chr5:140960395 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+17C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782692]	Chr5:141587025 [GRCh38] Chr5:140966592 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.434C>A (p.Ala145Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805300]	Chr5:141583584 [GRCh38] Chr5:140963151 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1642-19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784049]	Chr5:141574227 [GRCh38] Chr5:140953794 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1051C>A (p.Arg351=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787557]	Chr5:141578337 [GRCh38] Chr5:140957904 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791246]	Chr5:141573782 [GRCh38] Chr5:140953349 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1123G>T (p.Asp375Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792270]	Chr5:141578265 [GRCh38] Chr5:140957832 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+13G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804089]	Chr5:141529590 [GRCh38] Chr5:140909157 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+18C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795083]	Chr5:141618780 [GRCh38] Chr5:140998347 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.69A>C (p.Pro23=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784807]	Chr5:141618846 [GRCh38] Chr5:140998413 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-18T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795288]	Chr5:141527715 [GRCh38] Chr5:140907282 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.918C>T (p.Thr306=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790373]	Chr5:141579103 [GRCh38] Chr5:140958670 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3018+11G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793116]	Chr5:141528691 [GRCh38] Chr5:140908258 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1044+6A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804691]	Chr5:141578509 [GRCh38] Chr5:140958076 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3231A>G (p.Pro1077=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795189]	Chr5:141527615 [GRCh38] Chr5:140907182 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805416]	Chr5:141573664 [GRCh38] Chr5:140953231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806683]	Chr5:141575091 [GRCh38] Chr5:140954658 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.741C>G (p.Ala247=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782169]	Chr5:141580827 [GRCh38] Chr5:140960394 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+6G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805481]	Chr5:141528447 [GRCh38] Chr5:140908014 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1417A>G (p.Lys473Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784962]	Chr5:141576274 [GRCh38] Chr5:140955841 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1881C>T (p.Ile627=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791528]	Chr5:141573969 [GRCh38] Chr5:140953536 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1396+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796737]	Chr5:141576745 [GRCh38] Chr5:140956312 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784370]	Chr5:141584105 [GRCh38] Chr5:140963672 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787156]	Chr5:141587211 [GRCh38] Chr5:140966778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+19C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790061]	Chr5:141618779 [GRCh38] Chr5:140998346 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2701C>G (p.Pro901Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785906]	Chr5:141529249 [GRCh38] Chr5:140908816 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.599A>T (p.Asp200Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788641]	Chr5:141583227 [GRCh38] Chr5:140962794 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.395C>A (p.Ser132Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780153]	Chr5:141584131 [GRCh38] Chr5:140963698 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796603]	Chr5:141526479 [GRCh38] Chr5:140906046 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782515]	Chr5:141534373 [GRCh38] Chr5:140913940 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.317A>G (p.Asn106Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795586]	Chr5:141584209 [GRCh38] Chr5:140963776 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-15_301-14del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796642]	Chr5:141584239..141584240 [GRCh38] Chr5:140963806..140963807 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2582-7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792035]	Chr5:141529704 [GRCh38] Chr5:140909271 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1281-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003783871]	Chr5:141576877 [GRCh38] Chr5:140956444 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-18T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794592]	Chr5:141579214 [GRCh38] Chr5:140958781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.469C>T (p.Arg157Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785651]	Chr5:141583549 [GRCh38] Chr5:140963116 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2358+13_2358+16del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806540]	Chr5:141573476..141573479 [GRCh38] Chr5:140953043..140953046 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807217]	Chr5:141527592 [GRCh38] Chr5:140907159 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+5A>G	single nucleotide variant	not provided [RCV003490679]	Chr5:141576225 [GRCh38] Chr5:140955792 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2482+4A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794127]	Chr5:141571424 [GRCh38] Chr5:140950991 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.172AAG[1] (p.Lys59del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787794]	Chr5:141587165..141587167 [GRCh38] Chr5:140966732..140966734 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2807G>A (p.Arg936His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780547]	Chr5:141528913 [GRCh38] Chr5:140908480 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2940C>G (p.Thr980=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780540]	Chr5:141528780 [GRCh38] Chr5:140908347 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2985T>C (p.Gly995=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796375]	Chr5:141528735 [GRCh38] Chr5:140908302 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3339C>T (p.Thr1113=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794174]	Chr5:141526396 [GRCh38] Chr5:140905963 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3678G>A (p.Gly1226=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780112]	Chr5:141516992 [GRCh38] Chr5:140896559 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+5G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790647]	Chr5:141584119 [GRCh38] Chr5:140963686 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2984G>C (p.Gly995Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795073]	Chr5:141528736 [GRCh38] Chr5:140908303 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805229]	Chr5:141528489 [GRCh38] Chr5:140908056 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794680]	Chr5:141587131 [GRCh38] Chr5:140966698 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.620+11C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795105]	Chr5:141583195 [GRCh38] Chr5:140962762 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2880C>T (p.Val960=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806666]	Chr5:141528840 [GRCh38] Chr5:140908407 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.534-9T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797066]	Chr5:141583301 [GRCh38] Chr5:140962868 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791244]	Chr5:141571973 [GRCh38] Chr5:140951540 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2061C>T (p.Ile687=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780245]	Chr5:141573789 [GRCh38] Chr5:140953356 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784882]	Chr5:141576770 [GRCh38] Chr5:140956337 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3067T>C (p.Leu1023=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791376]	Chr5:141528534 [GRCh38] Chr5:140908101 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+19A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788089]	Chr5:141527554 [GRCh38] Chr5:140907121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+10A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794749]	Chr5:141576220 [GRCh38] Chr5:140955787 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-37TTGGTC[2]	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804879]	Chr5:141526481..141526486 [GRCh38] Chr5:140906048..140906053 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.590G>A (p.Arg197Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796503]	Chr5:141583236 [GRCh38] Chr5:140962803 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1901C>G (p.Pro634Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793239]	Chr5:141573949 [GRCh38] Chr5:140953516 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1118C>T (p.Ser373Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796872]	Chr5:141578270 [GRCh38] Chr5:140957837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807319]	Chr5:141583607 [GRCh38] Chr5:140963174 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.685-14C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003786855]	Chr5:141580897 [GRCh38] Chr5:140960464 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788156]	Chr5:141573835 [GRCh38] Chr5:140953402 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794280]	Chr5:141618830 [GRCh38] Chr5:140998397 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3217G>A (p.Val1073Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794294]	Chr5:141527629 [GRCh38] Chr5:140907196 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2758T>G (p.Ser920Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805518]	Chr5:141529192 [GRCh38] Chr5:140908759 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806412]	Chr5:141583611 [GRCh38] Chr5:140963178 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+2C>T	single nucleotide variant	not provided [RCV003489352]	Chr5:141579086 [GRCh38] Chr5:140958653 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1461+16C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790371]	Chr5:141576214 [GRCh38] Chr5:140955781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1820C>A (p.Thr607Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785499]	Chr5:141574030 [GRCh38] Chr5:140953597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.534-11G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785925]	Chr5:141583303 [GRCh38] Chr5:140962870 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3118G>A (p.Glu1040Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785935]	Chr5:141528483 [GRCh38] Chr5:140908050 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1781C>A (p.Thr594Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780455]	Chr5:141574069 [GRCh38] Chr5:140953636 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825-20G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806055]	Chr5:141579216 [GRCh38] Chr5:140958783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+17G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003783453]	Chr5:141584107 [GRCh38] Chr5:140963674 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3438+18G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805645]	Chr5:141526279 [GRCh38] Chr5:140905846 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3127C>T (p.His1043Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003786353]	Chr5:141528474 [GRCh38] Chr5:140908041 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.486C>G (p.Leu162=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807166]	Chr5:141583532 [GRCh38] Chr5:140963099 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.443A>G (p.Tyr148Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787679]	Chr5:141583575 [GRCh38] Chr5:140963142 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785630]	Chr5:141572054 [GRCh38] Chr5:140951621 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.895C>T (p.Leu299=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795917]	Chr5:141579126 [GRCh38] Chr5:140958693 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003783289]\|Inborn genetic diseases [RCV004366509]	Chr5:141573998 [GRCh38] Chr5:140953565 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641+9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782862]	Chr5:141574958 [GRCh38] Chr5:140954525 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793650]	Chr5:141584176 [GRCh38] Chr5:140963743 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3306C>G (p.Asn1102Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781802]	Chr5:141526429 [GRCh38] Chr5:140905996 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789111]	Chr5:141571952 [GRCh38] Chr5:140951519 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792118]	Chr5:141573989..141573990 [GRCh38] Chr5:140953556..140953557 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788381]	Chr5:141573653 [GRCh38] Chr5:140953220 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1230C>T (p.Phe410=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788771]	Chr5:141577525 [GRCh38] Chr5:140957092 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780528]	Chr5:141580867 [GRCh38] Chr5:140960434 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1253T>A (p.Leu418His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793252]	Chr5:141577502 [GRCh38] Chr5:140957069 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3252C>G (p.Asp1084Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791118]	Chr5:141527594 [GRCh38] Chr5:140907161 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2274T>G (p.Pro758=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787505]	Chr5:141573576 [GRCh38] Chr5:140953143 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781200]	Chr5:141618907 [GRCh38] Chr5:140998474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.934-16A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793776]	Chr5:141578641 [GRCh38] Chr5:140958208 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2604C>T (p.Arg868=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003779464]	Chr5:141529675 [GRCh38] Chr5:140909242 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792286]	Chr5:141576776 [GRCh38] Chr5:140956343 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2600T>A (p.Phe867Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787681]	Chr5:141529679 [GRCh38] Chr5:140909246 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.669T>C (p.Ala223=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792464]	Chr5:141582327 [GRCh38] Chr5:140961894 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3529C>T (p.Leu1177=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793333]	Chr5:141526083 [GRCh38] Chr5:140905650 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.934-8T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793334]	Chr5:141578633 [GRCh38] Chr5:140958200 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.753T>A (p.Ala251=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804060]	Chr5:141580815 [GRCh38] Chr5:140960382 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-15A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781957]	Chr5:141574223 [GRCh38] Chr5:140953790 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780676]	Chr5:141578336 [GRCh38] Chr5:140957903 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790062]	Chr5:141618811 [GRCh38] Chr5:140998378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3148+17T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780086]	Chr5:141528436 [GRCh38] Chr5:140908003 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2698G>C (p.Glu900Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782674]	Chr5:141529252 [GRCh38] Chr5:140908819 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789338]\|Inborn genetic diseases [RCV004981027]	Chr5:141580853 [GRCh38] Chr5:140960420 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1717C>A (p.Pro573Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789356]	Chr5:141574133 [GRCh38] Chr5:140953700 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-14G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793943]	Chr5:141572054 [GRCh38] Chr5:140951621 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788216]	Chr5:141574228 [GRCh38] Chr5:140953795 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804245]	Chr5:141574208 [GRCh38] Chr5:140953775 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1788T>C (p.Ile596=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794191]	Chr5:141574062 [GRCh38] Chr5:140953629 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2172T>C (p.Pro724=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781562]	Chr5:141573678 [GRCh38] Chr5:140953245 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788155]	Chr5:141527565 [GRCh38] Chr5:140907132 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782344]\|Inborn genetic diseases [RCV004366575]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.534-14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791948]	Chr5:141583306 [GRCh38] Chr5:140962873 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3414_3415delinsAA (p.His1139Asn)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788917]	Chr5:141526320..141526321 [GRCh38] Chr5:140905887..140905888 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1609C>T (p.Leu537=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788302]	Chr5:141574999 [GRCh38] Chr5:140954566 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793539]	Chr5:141575055 [GRCh38] Chr5:140954622 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800985]	Chr5:141573971 [GRCh38] Chr5:140953538 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810178]	Chr5:141618798 [GRCh38] Chr5:140998365 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801123]	Chr5:141582378 [GRCh38] Chr5:140961945 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1599G>A (p.Glu533=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801110]	Chr5:141575009 [GRCh38] Chr5:140954576 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+19T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797973]	Chr5:141583187 [GRCh38] Chr5:140962754 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-14G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808209]	Chr5:141517022 [GRCh38] Chr5:140896589 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+18_3574+22del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801205]	Chr5:141526016..141526020 [GRCh38] Chr5:140905583..140905587 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809365]	Chr5:141580879 [GRCh38] Chr5:140960446 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825-9C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800184]	Chr5:141579205 [GRCh38] Chr5:140958772 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.534-8C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799039]	Chr5:141583300 [GRCh38] Chr5:140962867 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801349]	Chr5:141526057 [GRCh38] Chr5:140905624 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.198T>A (p.Ser66=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810405]	Chr5:141587144 [GRCh38] Chr5:140966711 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-8_3149-7insC	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798098]	Chr5:141527704..141527705 [GRCh38] Chr5:140907271..140907272 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1194A>G (p.Leu398=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798175]	Chr5:141577561 [GRCh38] Chr5:140957128 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1928C>A (p.Pro643His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799345]	Chr5:141573922 [GRCh38] Chr5:140953489 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+11_1044+16del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799434]	Chr5:141578499..141578504 [GRCh38] Chr5:140958066..140958071 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813655]	Chr5:141577535 [GRCh38] Chr5:140957102 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3492A>G (p.Arg1164=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799439]	Chr5:141526120 [GRCh38] Chr5:140905687 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798403]	Chr5:141588213 [GRCh38] Chr5:140967780 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812823]	Chr5:141587121 [GRCh38] Chr5:140966688 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812881]	Chr5:141529613 [GRCh38] Chr5:140909180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1642-14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813690]	Chr5:141574222 [GRCh38] Chr5:140953789 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799629]	Chr5:141528564 [GRCh38] Chr5:140908131 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1236C>A (p.Ser412=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813036]	Chr5:141577519 [GRCh38] Chr5:140957086 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.904T>C (p.Leu302=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798577]	Chr5:141579117 [GRCh38] Chr5:140958684 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1919C>G (p.Ser640Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799660]	Chr5:141573931 [GRCh38] Chr5:140953498 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.144+2T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809923]	Chr5:141588222 [GRCh38] Chr5:140967789 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1530G>A (p.Glu510=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798655]	Chr5:141575078 [GRCh38] Chr5:140954645 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798652]	Chr5:141572053 [GRCh38] Chr5:140951620 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800797]	Chr5:141579097 [GRCh38] Chr5:140958664 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808909]	Chr5:141526326 [GRCh38] Chr5:140905893 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3081T>C (p.Cys1027=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808911]	Chr5:141528520 [GRCh38] Chr5:140908087 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809987]	Chr5:141524215 [GRCh38] Chr5:140903782 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2893_2894inv (p.Glu965Ser)	inversion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800539]	Chr5:141528826..141528827 [GRCh38] Chr5:140908393..140908394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797907]	Chr5:141528878 [GRCh38] Chr5:140908445 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+12G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800580]	Chr5:141529591 [GRCh38] Chr5:140909158 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2581+12T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798453]	Chr5:141534323 [GRCh38] Chr5:140913890 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800586]	Chr5:141516961 [GRCh38] Chr5:140896528 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.486C>T (p.Leu162=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801996]	Chr5:141583532 [GRCh38] Chr5:140963099 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.279G>A (p.Leu93=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808687]	Chr5:141587063 [GRCh38] Chr5:140966630 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+18A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799582]	Chr5:141579070 [GRCh38] Chr5:140958637 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.467T>C (p.Leu156Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800106]	Chr5:141583551 [GRCh38] Chr5:140963118 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3559A>C (p.Ile1187Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799483]	Chr5:141526053 [GRCh38] Chr5:140905620 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800061]	Chr5:141618847 [GRCh38] Chr5:140998414 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817868]	Chr5:141529179 [GRCh38] Chr5:140908746 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808874]	Chr5:141573759 [GRCh38] Chr5:140953326 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3600C>T (p.Asp1200=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003818070]	Chr5:141524204 [GRCh38] Chr5:140903771 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801936]	Chr5:141573940 [GRCh38] Chr5:140953507 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-20T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809463]	Chr5:141517028 [GRCh38] Chr5:140896595 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809466]	Chr5:141578319 [GRCh38] Chr5:140957886 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.403-4C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798196]	Chr5:141583619 [GRCh38] Chr5:140963186 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817688]	Chr5:141583549 [GRCh38] Chr5:140963116 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813111]	Chr5:141516959 [GRCh38] Chr5:140896526 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813228]	Chr5:141573538 [GRCh38] Chr5:140953105 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813299]	Chr5:141524169 [GRCh38] Chr5:140903736 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810548]	Chr5:141584231 [GRCh38] Chr5:140963798 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800922]	Chr5:141516997 [GRCh38] Chr5:140896564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809530]	Chr5:141516964 [GRCh38] Chr5:140896531 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.89del (p.Gly30fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810308]	Chr5:141618826 [GRCh38] Chr5:140998393 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809317]	Chr5:141573595 [GRCh38] Chr5:140953162 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.380A>G (p.Gln127Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800176]\|Inborn genetic diseases [RCV004614529]	Chr5:141584146 [GRCh38] Chr5:140963713 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.666A>G (p.Lys222=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817813]	Chr5:141582330 [GRCh38] Chr5:140961897 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812320]	Chr5:141527664 [GRCh38] Chr5:140907231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.533+18G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812447]	Chr5:141583467 [GRCh38] Chr5:140963034 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.381A>G (p.Gln127=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812450]	Chr5:141584145 [GRCh38] Chr5:140963712 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808825]	Chr5:141574124 [GRCh38] Chr5:140953691 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808840]	Chr5:141587184 [GRCh38] Chr5:140966751 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815700]	Chr5:141528502 [GRCh38] Chr5:140908069 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815746]\|not provided [RCV004780665]	Chr5:141584157 [GRCh38] Chr5:140963724 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808987]	Chr5:141584168 [GRCh38] Chr5:140963735 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815707]	Chr5:141573898 [GRCh38] Chr5:140953465 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801056]	Chr5:141618840 [GRCh38] Chr5:140998407 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812500]	Chr5:141577600 [GRCh38] Chr5:140957167 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.708G>A (p.Glu236=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817764]	Chr5:141580860 [GRCh38] Chr5:140960427 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815556]	Chr5:141526023 [GRCh38] Chr5:140905590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799886]	Chr5:141573820..141573822 [GRCh38] Chr5:140953387..140953389 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.118-5C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809676]	Chr5:141588255 [GRCh38] Chr5:140967822 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.792T>C (p.Ser264=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809684]	Chr5:141580776 [GRCh38] Chr5:140960343 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.427A>G (p.Lys143Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798435]	Chr5:141583591 [GRCh38] Chr5:140963158 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801229]	Chr5:141534423 [GRCh38] Chr5:140913990 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1281-13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799662]	Chr5:141576884 [GRCh38] Chr5:140956451 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800725]	Chr5:141573872 [GRCh38] Chr5:140953439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-19C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815737]	Chr5:141517027 [GRCh38] Chr5:140896594 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.300+19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809391]	Chr5:141587023 [GRCh38] Chr5:140966590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1650G>A (p.Lys550=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812510]	Chr5:141574200 [GRCh38] Chr5:140953767 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812641]	Chr5:141573587 [GRCh38] Chr5:140953154 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801043]	Chr5:141573794 [GRCh38] Chr5:140953361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.839del (p.Leu280fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813164]	Chr5:141579182 [GRCh38] Chr5:140958749 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.699C>A (p.Thr233=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809644]	Chr5:141580869 [GRCh38] Chr5:140960436 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813061]	Chr5:141579072 [GRCh38] Chr5:140958639 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1978G>A (p.Gly660Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808110]	Chr5:141573872 [GRCh38] Chr5:140953439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-3T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813411]	Chr5:141527700 [GRCh38] Chr5:140907267 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815280]	Chr5:141573563 [GRCh38] Chr5:140953130 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809302]	Chr5:141583581 [GRCh38] Chr5:140963148 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813613]	Chr5:141528874 [GRCh38] Chr5:140908441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1636G>A (p.Gly546Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800183]	Chr5:141574972 [GRCh38] Chr5:140954539 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3297A>G (p.Glu1099=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802427]	Chr5:141526438 [GRCh38] Chr5:140906005 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1262G>T (p.Arg421Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803061]	Chr5:141577493 [GRCh38] Chr5:140957060 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803756]	Chr5:141576771 [GRCh38] Chr5:140956338 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.543A>G (p.Gln181=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803634]	Chr5:141583283 [GRCh38] Chr5:140962850 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803203]	Chr5:141575073 [GRCh38] Chr5:140954640 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3192A>G (p.Lys1064=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803259]	Chr5:141527654 [GRCh38] Chr5:140907221 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1308A>G (p.Glu436=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803836]	Chr5:141576844 [GRCh38] Chr5:140956411 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803481]	Chr5:141517017 [GRCh38] Chr5:140896584 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803633]	Chr5:141528907 [GRCh38] Chr5:140908474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803873]	Chr5:141579131 [GRCh38] Chr5:140958698 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802731]	Chr5:141579153 [GRCh38] Chr5:140958720 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803578]	Chr5:141579176 [GRCh38] Chr5:140958743 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1917C>T (p.Ile639=)	single nucleotide variant	DIAPH1-related disorder [RCV003939517]	Chr5:141573933 [GRCh38] Chr5:140953500 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802336]	Chr5:141618857 [GRCh38] Chr5:140998424 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802790]	Chr5:141573703 [GRCh38] Chr5:140953270 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802932]	Chr5:141529204 [GRCh38] Chr5:140908771 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803248]	Chr5:141578501 [GRCh38] Chr5:140958068 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+3G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803832]	Chr5:141571923 [GRCh38] Chr5:140951490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803470]	Chr5:141529270 [GRCh38] Chr5:140908837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803539]	Chr5:141575084 [GRCh38] Chr5:140954651 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.147G>A (p.Leu49=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802296]	Chr5:141587195 [GRCh38] Chr5:140966762 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1095T>C (p.Phe365=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802676]	Chr5:141578293 [GRCh38] Chr5:140957860 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1734T>G (p.Ser578Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802831]	Chr5:141574116 [GRCh38] Chr5:140953683 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.23T>C (p.Leu8Pro)	single nucleotide variant	Inborn genetic diseases [RCV004373693]	Chr5:141618892 [GRCh38] Chr5:140998459 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3080G>A (p.Cys1027Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004373694]	Chr5:141528521 [GRCh38] Chr5:140908088 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.791C>A (p.Ser264Tyr)	single nucleotide variant	Auditory neuropathy spectrum disorder [RCV003984979]	Chr5:141580777 [GRCh38] Chr5:140960344 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.400G>T (p.Ala134Ser)	single nucleotide variant	Inborn genetic diseases [RCV004373695]	Chr5:141584126 [GRCh38] Chr5:140963693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.887A>G (p.Gln296Arg)	single nucleotide variant	Inborn genetic diseases [RCV004373696]	Chr5:141579134 [GRCh38] Chr5:140958701 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.880C>T (p.Arg294Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220786]\|DIAPH1-related disorder [RCV003902206]	Chr5:141579141 [GRCh38] Chr5:140958708 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.439A>G (p.Met147Val)	single nucleotide variant	not provided [RCV004722050]	Chr5:141583579 [GRCh38] Chr5:140963146 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-31C>G	single nucleotide variant	DIAPH1-related disorder [RCV003949243]	Chr5:141618945 [GRCh38] Chr5:140998512 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.974C>T (p.Ala325Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220882]\|Inborn genetic diseases [RCV004373697]	Chr5:141578585 [GRCh38] Chr5:140958152 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140998345)_(140998481_?)del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580515]	Chr5:140998345..140998481 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002797249]	Chr5:141528494 [GRCh38] Chr5:140908061 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3233C>T (p.Ala1078Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002912453]	Chr5:141527613 [GRCh38] Chr5:140907180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2733G>A (p.Lys911=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003082554]	Chr5:141529217 [GRCh38] Chr5:140908784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-16T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003007638]	Chr5:141527713 [GRCh38] Chr5:140907280 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3156T>C (p.Ala1052=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003040108]	Chr5:141527690 [GRCh38] Chr5:140907257 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3354G>A (p.Leu1118=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003006131]	Chr5:141526381 [GRCh38] Chr5:140905948 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002828507]	Chr5:141573628 [GRCh38] Chr5:140953195 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003055846]	Chr5:141527643 [GRCh38] Chr5:140907210 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778862]\|not provided [RCV003146081]	Chr5:141573959 [GRCh38] Chr5:140953526 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778863]\|not provided [RCV003146084]	Chr5:141574055 [GRCh38] Chr5:140953622 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777417]\|not provided [RCV003334275]	Chr5:141534424 [GRCh38] Chr5:140913991 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003333826]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003777414]	Chr5:141529682 [GRCh38] Chr5:140909249 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1742C>T (p.Pro581Leu)	single nucleotide variant	Inborn genetic diseases [RCV003381007]	Chr5:141574108 [GRCh38] Chr5:140953675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-16162G>A	single nucleotide variant	not specified [RCV003489212]	Chr5:141550595 [GRCh38] Chr5:140930162 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2025C>A (p.Ile675=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807750]	Chr5:141573825 [GRCh38] Chr5:140953392 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787925]	Chr5:141575107 [GRCh38] Chr5:140954674 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.183G>A (p.Lys61=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003779448]	Chr5:141587159 [GRCh38] Chr5:140966726 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1769G>C (p.Gly590Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796492]	Chr5:141574081 [GRCh38] Chr5:140953648 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3105C>T (p.Leu1035=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795290]	Chr5:141528496 [GRCh38] Chr5:140908063 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795482]	Chr5:141577550 [GRCh38] Chr5:140957117 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.132C>T (p.Leu44=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806314]	Chr5:141588236 [GRCh38] Chr5:140967803 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.810G>T (p.Pro270=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785095]	Chr5:141580758 [GRCh38] Chr5:140960325 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1689T>A (p.Ala563=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789981]	Chr5:141574161 [GRCh38] Chr5:140953728 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3504C>T (p.Ala1168=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787494]	Chr5:141526108 [GRCh38] Chr5:140905675 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808214]	Chr5:141524143 [GRCh38] Chr5:140903710 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815391]	Chr5:141583536 [GRCh38] Chr5:140963103 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3574+5G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815393]	Chr5:141526033 [GRCh38] Chr5:140905600 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140967771)_(140967837_?)del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580516]	Chr5:140967771..140967837 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140896418)_(140998481_?)dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580517]	Chr5:140896418..140998481 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140953039)_(140954733_?)dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580518]	Chr5:140953039..140954733 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2954A>G (p.Asn985Ser)	single nucleotide variant	not provided [RCV004585895]	Chr5:141528766 [GRCh38] Chr5:140908333 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2407del (p.Glu803fs)	deletion	not provided [RCV004697527]	Chr5:141571992 [GRCh38] Chr5:140951559 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.620+170T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004698750]	Chr5:141583036 [GRCh38] Chr5:140962603 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3604C>T (p.Leu1202Phe)	single nucleotide variant	DIAPH1-related disorder [RCV004732354]	Chr5:141524200 [GRCh38] Chr5:140903767 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.244C>T (p.Gln82Ter)	single nucleotide variant	DIAPH1-related disorder [RCV004753986]	Chr5:141587098 [GRCh38] Chr5:140966665 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1170T>C (p.Phe390=)	single nucleotide variant	not provided [RCV004810502]	Chr5:141577585 [GRCh38] Chr5:140957152 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3273+6C>G	single nucleotide variant	not provided [RCV004792905]	Chr5:141527567 [GRCh38] Chr5:140907134 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1875_1876delinsAC (p.Cys626Arg)	indel	not provided [RCV004792906]	Chr5:141573974..141573975 [GRCh38] Chr5:140953541..140953542 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2186C>G (p.Pro729Arg)	single nucleotide variant	not provided [RCV004761399]		uncertain significance
NM_005219.5(DIAPH1):c.3662-1931C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004790046]	Chr5:141518939 [GRCh38] Chr5:140898506 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1212A>T (p.Ser404=)	single nucleotide variant	not provided [RCV004761710]		uncertain significance
NM_005219.5(DIAPH1):c.3613_3616del (p.Ala1205fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV004797111]	Chr5:141524188..141524191 [GRCh38] Chr5:140903755..140903758 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3613G>A (p.Ala1205Thr)	single nucleotide variant	not provided [RCV004760823]		uncertain significance
NM_005219.5(DIAPH1):c.3623C>T (p.Ser1208Leu)	single nucleotide variant	not provided [RCV004771245]	Chr5:141524181 [GRCh38] Chr5:140903748 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1943A>T (p.Asp648Val)	single nucleotide variant	not provided [RCV004771351]	Chr5:141573907 [GRCh38] Chr5:140953474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2188C>T (p.Pro730Ser)	single nucleotide variant	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV004764268]		likely pathogenic\|uncertain significance
NM_005219.5(DIAPH1):c.2527A>G (p.Lys843Glu)	single nucleotide variant	DIAPH1-related disorder [RCV004730530]	Chr5:141534389 [GRCh38] Chr5:140913956 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2054C>T (p.Ala685Val)	single nucleotide variant	not provided [RCV004775850]	Chr5:141573796 [GRCh38] Chr5:140953363 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3250G>A (p.Asp1084Asn)	single nucleotide variant	Inborn genetic diseases [RCV004981171]\|not provided [RCV004720127]	Chr5:141527596 [GRCh38] Chr5:140907163 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2155C>T (p.Pro719Ser)	single nucleotide variant	Inborn genetic diseases [RCV004976875]	Chr5:141573695 [GRCh38] Chr5:140953262 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.164T>G (p.Met55Arg)	single nucleotide variant	Inborn genetic diseases [RCV004976876]	Chr5:141587178 [GRCh38] Chr5:140966745 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1823C>T (p.Pro608Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212490]	Chr5:141574027 [GRCh38] Chr5:140953594 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.60C>T (p.Gly20=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215360]	Chr5:141618855 [GRCh38] Chr5:140998422 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3507G>A (p.Lys1169=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229247]	Chr5:141526105 [GRCh38] Chr5:140905672 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+5G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214511]	Chr5:141571423 [GRCh38] Chr5:140950990 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214960]	Chr5:141572055 [GRCh38] Chr5:140951622 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1163+8T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215209]	Chr5:141578217 [GRCh38] Chr5:140957784 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2815G>A (p.Ala939Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212774]	Chr5:141528905 [GRCh38] Chr5:140908472 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.822C>T (p.Asp274=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228258]	Chr5:141580746 [GRCh38] Chr5:140960313 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3652C>T (p.Pro1218Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214499]	Chr5:141524152 [GRCh38] Chr5:140903719 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+11C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214898]	Chr5:141579077 [GRCh38] Chr5:140958644 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215301]	Chr5:141618795 [GRCh38] Chr5:140998362 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1717CCT[1] (p.Pro574del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212311]	Chr5:141574128..141574130 [GRCh38] Chr5:140953695..140953697 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2103C>T (p.Pro701=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212333]	Chr5:141573747 [GRCh38] Chr5:140953314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.121C>T (p.Leu41=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215163]	Chr5:141588247 [GRCh38] Chr5:140967814 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.405C>T (p.Gly135=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212541]	Chr5:141583613 [GRCh38] Chr5:140963180 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1396+15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214097]	Chr5:141576741 [GRCh38] Chr5:140956308 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-10T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210789]	Chr5:141529283 [GRCh38] Chr5:140908850 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2581+17C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210865]	Chr5:141534318 [GRCh38] Chr5:140913885 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.899A>G (p.Asp300Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226138]	Chr5:141579122 [GRCh38] Chr5:140958689 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3019-7C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214174]	Chr5:141528589 [GRCh38] Chr5:140908156 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1065T>C (p.Asn355=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229000]	Chr5:141578323 [GRCh38] Chr5:140957890 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2829G>A (p.Lys943=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226345]	Chr5:141528891 [GRCh38] Chr5:140908458 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1783A>G (p.Ile595Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229153]	Chr5:141574067 [GRCh38] Chr5:140953634 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.480T>C (p.Pro160=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213052]	Chr5:141583538 [GRCh38] Chr5:140963105 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3366C>T (p.Phe1122=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228648]	Chr5:141526369 [GRCh38] Chr5:140905936 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1007G>A (p.Ser336Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215331]	Chr5:141578552 [GRCh38] Chr5:140958119 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2848G>A (p.Val950Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228951]	Chr5:141528872 [GRCh38] Chr5:140908439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779-10T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212429]	Chr5:141528951 [GRCh38] Chr5:140908518 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2108del (p.Pro703fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214818]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1327C>G (p.Leu443Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210518]	Chr5:141576825 [GRCh38] Chr5:140956392 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1121A>G (p.Tyr374Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210598]	Chr5:141578267 [GRCh38] Chr5:140957834 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-3_3149-2insC	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005227117]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2358+6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005225680]	Chr5:141573486 [GRCh38] Chr5:140953053 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.991C>T (p.Arg331Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210580]	Chr5:141578568 [GRCh38] Chr5:140958135 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.461C>T (p.Ser154Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210662]	Chr5:141583557 [GRCh38] Chr5:140963124 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.808C>T (p.Pro270Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226248]	Chr5:141580760 [GRCh38] Chr5:140960327 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2421G>A (p.Glu807=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209811]	Chr5:141571978 [GRCh38] Chr5:140951545 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-7T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226703]	Chr5:141579203 [GRCh38] Chr5:140958770 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3117C>G (p.Asp1039Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226997]	Chr5:141528484 [GRCh38] Chr5:140908051 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1281-3T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211336]	Chr5:141576874 [GRCh38] Chr5:140956441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209946]	Chr5:141618785 [GRCh38] Chr5:140998352 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3490C>A (p.Arg1164=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210049]	Chr5:141526122 [GRCh38] Chr5:140905689 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3592G>A (p.Val1198Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212653]	Chr5:141524212 [GRCh38] Chr5:140903779 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210582]	Chr5:141526472 [GRCh38] Chr5:140906039 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.866T>C (p.Met289Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228217]	Chr5:141579155 [GRCh38] Chr5:140958722 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1684A>T (p.Met562Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214015]	Chr5:141574166 [GRCh38] Chr5:140953733 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.786G>A (p.Leu262=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210929]	Chr5:141580782 [GRCh38] Chr5:140960349 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.807A>G (p.Leu269=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211071]	Chr5:141580761 [GRCh38] Chr5:140960328 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.63G>C (p.Arg21=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211123]	Chr5:141618852 [GRCh38] Chr5:140998419 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3040G>C (p.Asp1014His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228574]	Chr5:141528561 [GRCh38] Chr5:140908128 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2473+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226778]	Chr5:141571918 [GRCh38] Chr5:140951485 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2254C>G (p.Pro752Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211282]	Chr5:141573596 [GRCh38] Chr5:140953163 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3516del (p.Glu1173fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226382]	Chr5:141526096 [GRCh38] Chr5:140905663 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3416A>G (p.His1139Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226858]	Chr5:141526319 [GRCh38] Chr5:140905886 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-13T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211266]	Chr5:141587210 [GRCh38] Chr5:140966777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.301-14dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212846]	Chr5:141584238..141584239 [GRCh38] Chr5:140963805..140963806 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3686T>A (p.Val1229Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229156]	Chr5:141516984 [GRCh38] Chr5:140896551 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.370A>G (p.Met124Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212272]	Chr5:141584156 [GRCh38] Chr5:140963723 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2911G>C (p.Glu971Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210488]	Chr5:141528809 [GRCh38] Chr5:140908376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3656G>A (p.Arg1219His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005227148]	Chr5:141524148 [GRCh38] Chr5:140903715 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3438+12A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210736]	Chr5:141526285 [GRCh38] Chr5:140905852 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1450C>T (p.Leu484=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226360]	Chr5:141576241 [GRCh38] Chr5:140955808 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.72T>C (p.Asp24=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211122]	Chr5:141618843 [GRCh38] Chr5:140998410 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-17T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228861]	Chr5:141587214 [GRCh38] Chr5:140966781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.964A>G (p.Ile322Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212493]	Chr5:141578595 [GRCh38] Chr5:140958162 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.897G>A (p.Leu299=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220269]	Chr5:141579124 [GRCh38] Chr5:140958691 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2139_2150dup (p.Pro719_Leu720insProProProPro)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223741]	Chr5:141573699..141573700 [GRCh38] Chr5:140953266..140953267 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.811C>T (p.Gln271Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216370]	Chr5:141580757 [GRCh38] Chr5:140960324 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3226T>A (p.Phe1076Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218598]	Chr5:141527620 [GRCh38] Chr5:140907187 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1913C>G (p.Ala638Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215619]	Chr5:141573937 [GRCh38] Chr5:140953504 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3195A>C (p.Gln1065His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215726]	Chr5:141527651 [GRCh38] Chr5:140907218 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.30C>G (p.Pro10=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215738]	Chr5:141618885 [GRCh38] Chr5:140998452 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1559A>G (p.Lys520Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217965]	Chr5:141575049 [GRCh38] Chr5:140954616 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3092A>T (p.Tyr1031Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217988]	Chr5:141528509 [GRCh38] Chr5:140908076 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2153C>T (p.Pro718Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223991]	Chr5:141573697 [GRCh38] Chr5:140953264 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2174G>C (p.Gly725Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219047]	Chr5:141573676 [GRCh38] Chr5:140953243 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+8T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219800]	Chr5:141576222 [GRCh38] Chr5:140955789 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3747G>A (p.Lys1249=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223436]	Chr5:141516923 [GRCh38] Chr5:140896490 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.702G>T (p.Met234Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217872]	Chr5:141580866 [GRCh38] Chr5:140960433 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1182T>C (p.Phe394=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220586]	Chr5:141577573 [GRCh38] Chr5:140957140 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.745G>C (p.Asp249His)	single nucleotide variant	not provided [RCV005241875]	Chr5:141580823 [GRCh38] Chr5:140960390 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1750C>A (p.Pro584Thr)	single nucleotide variant	not provided [RCV005245410]	Chr5:141574100 [GRCh38] Chr5:140953667 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1343C>T (p.Ala448Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218892]	Chr5:141576809 [GRCh38] Chr5:140956376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3513G>A (p.Lys1171=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219171]	Chr5:141526099 [GRCh38] Chr5:140905666 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1888C>A (p.Pro630Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223817]	Chr5:141573962 [GRCh38] Chr5:140953529 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2015G>T (p.Gly672Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217288]	Chr5:141573835 [GRCh38] Chr5:140953402 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1557A>G (p.Glu519=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005221615]	Chr5:141575051 [GRCh38] Chr5:140954618 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-5C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217480]	Chr5:141528587 [GRCh38] Chr5:140908154 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-15_3149-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224162]	Chr5:141527700..141527712 [GRCh38] Chr5:140907267..140907279 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2230G>A (p.Gly744Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224311]	Chr5:141573620 [GRCh38] Chr5:140953187 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3378C>T (p.Pro1126=)	single nucleotide variant	not provided [RCV005234519]	Chr5:141526357 [GRCh38] Chr5:140905924 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1916T>C (p.Ile639Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215470]	Chr5:141573934 [GRCh38] Chr5:140953501 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1705G>A (p.Ala569Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215523]	Chr5:141574145 [GRCh38] Chr5:140953712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+8A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005222434]	Chr5:141578507 [GRCh38] Chr5:140958074 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2135G>A (p.Gly712Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216771]	Chr5:141573715 [GRCh38] Chr5:140953282 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1644T>A (p.Val548=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216821]	Chr5:141574206 [GRCh38] Chr5:140953773 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1563T>C (p.Asp521=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219066]	Chr5:141575045 [GRCh38] Chr5:140954612 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2198C>G (p.Pro733Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005221656]	Chr5:141573652 [GRCh38] Chr5:140953219 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3143G>C (p.Ser1048Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217261]	Chr5:141528458 [GRCh38] Chr5:140908025 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1280+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224675]	Chr5:141577461 [GRCh38] Chr5:140957028 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+19C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219135]	Chr5:141618779 [GRCh38] Chr5:140998346 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2676G>A (p.Gln892=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224479]	Chr5:141529603 [GRCh38] Chr5:140909170 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.49A>G (p.Lys17Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224545]	Chr5:141618866 [GRCh38] Chr5:140998433 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.219A>G (p.Ala73=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216352]	Chr5:141587123 [GRCh38] Chr5:140966690 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2615A>G (p.Gln872Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219174]	Chr5:141529664 [GRCh38] Chr5:140909231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1874T>C (p.Val625Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220292]	Chr5:141573976 [GRCh38] Chr5:140953543 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220331]	Chr5:141574951 [GRCh38] Chr5:140954518 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1741C>G (p.Pro581Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223807]	Chr5:141574109 [GRCh38] Chr5:140953676 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2256A>G (p.Pro752=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005221586]	Chr5:141573594 [GRCh38] Chr5:140953161 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.722T>G (p.Ile241Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220480]	Chr5:141580846 [GRCh38] Chr5:140960413 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1947T>C (p.Ala649=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223842]	Chr5:141573903 [GRCh38] Chr5:140953470 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2821C>A (p.Leu941Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223859]	Chr5:141528899 [GRCh38] Chr5:140908466 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.650T>C (p.Ile217Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216500]	Chr5:141582346 [GRCh38] Chr5:140961913 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218235]	Chr5:141584245 [GRCh38] Chr5:140963812 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2553G>A (p.Val851=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220406]	Chr5:141534363 [GRCh38] Chr5:140913930 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.769A>G (p.Ile257Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220426]	Chr5:141580799 [GRCh38] Chr5:140960366 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1476A>G (p.Leu492=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216652]	Chr5:141575132 [GRCh38] Chr5:140954699 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.203A>G (p.His68Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224173]	Chr5:141587139 [GRCh38] Chr5:140966706 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2466G>T (p.Gln822His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216770]	Chr5:141571933 [GRCh38] Chr5:140951500 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218213]	Chr5:141579069 [GRCh38] Chr5:140958636 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2039C>G (p.Pro680Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217035]	Chr5:141573811 [GRCh38] Chr5:140953378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2748C>T (p.Asp916=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218482]	Chr5:141529202 [GRCh38] Chr5:140908769 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.30del (p.Gly11fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217233]	Chr5:141618885 [GRCh38] Chr5:140998452 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1280+8G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216328]	Chr5:141577467 [GRCh38] Chr5:140957034 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1394T>C (p.Ile465Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224361]	Chr5:141576758 [GRCh38] Chr5:140956325 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.533+1G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218609]	Chr5:141583484 [GRCh38] Chr5:140963051 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2413C>T (p.Arg805Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216445]	Chr5:141571986 [GRCh38] Chr5:140951553 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+1G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219746]	Chr5:141578514 [GRCh38] Chr5:140958081 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1450C>G (p.Leu484Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219632]	Chr5:141576241 [GRCh38] Chr5:140955808 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.908A>G (p.Lys303Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216507]	Chr5:141579113 [GRCh38] Chr5:140958680 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.255A>C (p.Gln85His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218699]	Chr5:141587087 [GRCh38] Chr5:140966654 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2696C>T (p.Pro899Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219808]	Chr5:141529254 [GRCh38] Chr5:140908821 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1177G>A (p.Val393Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217571]	Chr5:141577578 [GRCh38] Chr5:140957145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.975G>T (p.Ala325=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219880]	Chr5:141578584 [GRCh38] Chr5:140958151 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1961C>A (p.Pro654His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005222213]	Chr5:141573889 [GRCh38] Chr5:140953456 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.403-15A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223522]	Chr5:141583630 [GRCh38] Chr5:140963197 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1815T>C (p.Ser605=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215440]	Chr5:141574035 [GRCh38] Chr5:140953602 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+4T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218814]	Chr5:141527569 [GRCh38] Chr5:140907136 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1609del (p.Leu537fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215404]	Chr5:141574999 [GRCh38] Chr5:140954566 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2209G>A (p.Gly737Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215484]	Chr5:141573641 [GRCh38] Chr5:140953208 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2424C>T (p.Asn808=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223541]	Chr5:141571975 [GRCh38] Chr5:140951542 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2651C>T (p.Ala884Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217734]	Chr5:141529628 [GRCh38] Chr5:140909195 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.684+18C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218954]	Chr5:141582294 [GRCh38] Chr5:140961861 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1163+6C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220042]	Chr5:141578219 [GRCh38] Chr5:140957786 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.189G>T (p.Lys63Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217843]	Chr5:141587153 [GRCh38] Chr5:140966720 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2180C>T (p.Pro727Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217849]	Chr5:141573670 [GRCh38] Chr5:140953237 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2453C>A (p.Thr818Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215783]	Chr5:141571946 [GRCh38] Chr5:140951513 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+12T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217877]	Chr5:141618786 [GRCh38] Chr5:140998353 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1149T>G (p.Ile383Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220070]	Chr5:141578239 [GRCh38] Chr5:140957806 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3755A>C (p.Lys1252Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216932]	Chr5:141516915 [GRCh38] Chr5:140896482 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3281T>A (p.Val1094Glu)	single nucleotide variant	Inborn genetic diseases [RCV004616248]	Chr5:141526454 [GRCh38] Chr5:140906021 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2237G>T (p.Gly746Val)	single nucleotide variant	Inborn genetic diseases [RCV004616246]	Chr5:141573613 [GRCh38] Chr5:140953180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2041T>G (p.Leu681Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004790103]	Chr5:141573809 [GRCh38] Chr5:140953376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1421T>G (p.Val474Gly)	single nucleotide variant	Inborn genetic diseases [RCV004976874]	Chr5:141576270 [GRCh38] Chr5:140955837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2027C>G (p.Pro676Arg)	single nucleotide variant	not provided [RCV005004070]	Chr5:141573823 [GRCh38] Chr5:140953390 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1484G>A (p.Arg495Gln)	single nucleotide variant	Inborn genetic diseases [RCV004976871]	Chr5:141575124 [GRCh38] Chr5:140954691 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1760C>T (p.Pro587Leu)	single nucleotide variant	Inborn genetic diseases [RCV004976872]	Chr5:141574090 [GRCh38] Chr5:140953657 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1201G>A (p.Val401Met)	single nucleotide variant	Inborn genetic diseases [RCV004976873]	Chr5:141577554 [GRCh38] Chr5:140957121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.81C>T (p.Pro27=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211121]	Chr5:141618834 [GRCh38] Chr5:140998401 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210866]	Chr5:141580901 [GRCh38] Chr5:140960468 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3002T>G (p.Ile1001Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226142]	Chr5:141528718 [GRCh38] Chr5:140908285 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-20_621-15del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211159]	Chr5:141582390..141582395 [GRCh38] Chr5:140961957..140961962 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1641+13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213826]	Chr5:141574954 [GRCh38] Chr5:140954521 [GRCh37] Chr5:5q31.3	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	11998
Count of miRNA genes:	1183
Interacting mature miRNAs:	1504
Transcripts:	ENST00000253811, ENST00000389054, ENST00000389057, ENST00000398557, ENST00000398562, ENST00000398566, ENST00000448451, ENST00000468119, ENST00000472516, ENST00000476339, ENST00000491754, ENST00000494967, ENST00000518047, ENST00000518484, ENST00000520569, ENST00000521457, ENST00000523100, ENST00000524301
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
407018434	GWAS667410_H	body mass index QTL GWAS667410 (human)		1e-08	body mass index	body mass index (BMI) (CMO:0000105)	5	141610541	141610542	Human
597142966	GWAS1239040_H	triglyceride measurement QTL GWAS1239040 (human)		8e-09	triglyceride measurement	blood triglyceride level (CMO:0000118)	5	141554225	141554226	Human
596976468	GWAS1095987_H	body height QTL GWAS1095987 (human)		7e-10	body height		5	141575387	141575388	Human
597226076	GWAS1322150_H	self reported educational attainment QTL GWAS1322150 (human)		1e-10	self reported educational attainment		5	141566788	141566789	Human
597116819	GWAS1212893_H	self reported educational attainment QTL GWAS1212893 (human)		1e-10	self reported educational attainment		5	141594912	141594913	Human
597192080	GWAS1288154_H	educational attainment QTL GWAS1288154 (human)		3e-24	educational attainment		5	141610541	141610542	Human
597029884	GWAS1125958_H	body mass index QTL GWAS1125958 (human)		3e-08	body mass index	body mass index (BMI) (CMO:0000105)	5	141610541	141610542	Human
597167507	GWAS1263581_H	serum alanine aminotransferase measurement QTL GWAS1263581 (human)		5e-08	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	5	141538066	141538068	Human
596960671	GWAS1080190_H	metabolic syndrome QTL GWAS1080190 (human)		6e-09	metabolic syndrome		5	141541844	141541845	Human
597023928	GWAS1120002_H	allergic disease QTL GWAS1120002 (human)		6e-11	allergic disease		5	141545795	141545796	Human
597060583	GWAS1156657_H	metabolic syndrome QTL GWAS1156657 (human)		6e-09	metabolic syndrome		5	141541844	141541845	Human
597303176	GWAS1399250_H	monocyte count QTL GWAS1399250 (human)		9e-09	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	5	141610281	141610282	Human
597172683	GWAS1268757_H	body mass index QTL GWAS1268757 (human)		1e-08	body mass index	body mass index (BMI) (CMO:0000105)	5	141594912	141594913	Human
1357314	AASTH54_H	Allergic/atopic asthma related QTL 54 (human)	3.56	0.0003	Reversible airflow obstruction	total serum IgE	5	135892246	150155845	Human
597307917	GWAS1403991_H	triglyceride measurement QTL GWAS1403991 (human)		1e-09	triglyceride measurement	blood triglyceride level (CMO:0000118)	5	141554225	141554226	Human
597111520	GWAS1207594_H	mathematical ability QTL GWAS1207594 (human)		2e-08	mathematical ability		5	141592550	141592551	Human
597050287	GWAS1146361_H	Eczematoid dermatitis QTL GWAS1146361 (human)		1e-09	Eczematoid dermatitis		5	141538221	141538222	Human
597201729	GWAS1297803_H	body mass index QTL GWAS1297803 (human)		3e-09	body mass index	body mass index (BMI) (CMO:0000105)	5	141594912	141594913	Human
597253699	GWAS1349773_H	age at first birth measurement QTL GWAS1349773 (human)		1e-08	age at first birth measurement	maternal age at birth of first offspring (CMO:0002510)	5	141609843	141609844	Human
597034221	GWAS1130295_H	triglyceride measurement QTL GWAS1130295 (human)		4e-11	triglyceride measurement	blood triglyceride level (CMO:0000118)	5	141554225	141554226	Human

RH92360

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,972,205 - 140,972,325	UniSTS	GRCh37
Build 36	5	140,952,389 - 140,952,509	RGD	NCBI36
Celera	5	137,048,933 - 137,049,053	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,116,850 - 136,116,970	UniSTS
GeneMap99-GB4 RH Map	5	531.52	UniSTS

SHGC-79378

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,898,472 - 140,898,815	UniSTS	GRCh37
Build 36	5	140,878,656 - 140,878,999	RGD	NCBI36
Celera	5	136,975,206 - 136,975,549	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,043,310 - 136,043,653	UniSTS

PMC115182P3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,981,641 - 140,982,196	UniSTS	GRCh37
Build 36	5	140,961,825 - 140,962,380	RGD	NCBI36
Celera	5	137,058,369 - 137,058,924	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,126,286 - 136,126,841	UniSTS

PMC115182P7

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,981,802 - 140,981,949	UniSTS	GRCh37
Build 36	5	140,961,986 - 140,962,133	RGD	NCBI36
Celera	5	137,058,530 - 137,058,677	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,126,447 - 136,126,594	UniSTS

D5S2318

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,894,684 - 140,894,885	UniSTS	GRCh37
Build 36	5	140,874,868 - 140,875,069	RGD	NCBI36
Celera	5	136,971,420 - 136,971,621	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,039,524 - 136,039,725	UniSTS
Whitehead-YAC Contig Map	5		UniSTS

RH78579

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,895,649 - 140,895,802	UniSTS	GRCh37
Build 36	5	140,875,833 - 140,875,986	RGD	NCBI36
Celera	5	136,972,385 - 136,972,538	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,040,489 - 136,040,642	UniSTS
GeneMap99-GB4 RH Map	5	531.52	UniSTS
NCBI RH Map	5	889.1	UniSTS

RH15897

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,894,682 - 140,894,806	UniSTS	GRCh37
Build 36	5	140,874,866 - 140,874,990	RGD	NCBI36
Celera	5	136,971,418 - 136,971,542	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,039,522 - 136,039,646	UniSTS
GeneMap99-GB4 RH Map	5	531.52	UniSTS
NCBI RH Map	5	889.1	UniSTS

RH66450

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,988,378 - 140,988,494	UniSTS	GRCh37
Build 36	5	140,968,562 - 140,968,678	RGD	NCBI36
Celera	5	137,065,106 - 137,065,222	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,133,023 - 136,133,139	UniSTS
GeneMap99-GB4 RH Map	5	531.22	UniSTS
NCBI RH Map	5	889.1	UniSTS

D5S1539

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,935,502 - 140,935,752	UniSTS	GRCh37
Build 36	5	140,915,686 - 140,915,936	RGD	NCBI36
Celera	5	137,012,237 - 137,012,487	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,080,149 - 136,080,399	UniSTS
Whitehead-YAC Contig Map	5		UniSTS

DIAPH1__4737

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,894,585 - 140,895,261	UniSTS	GRCh37
Build 36	5	140,874,769 - 140,875,445	RGD	NCBI36
Celera	5	136,971,321 - 136,971,997	RGD
HuRef	5	136,039,425 - 136,040,101	UniSTS

WI-17153

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,937,162 - 140,937,683	UniSTS	GRCh37
Celera	5	137,013,897 - 137,014,418	UniSTS
Cytogenetic Map	5	q31	UniSTS
HuRef	5	136,081,809 - 136,082,330	UniSTS
GeneMap99-GB4 RH Map	5	531.32	UniSTS
Whitehead-RH Map	5	441.9	UniSTS
NCBI RH Map	5	889.1	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	2438	2788	2251	4973	1726	2351	5	624	1951	465	2269	7302	6469	53	3734	1	852	1743	1617	175	1


RefSeq Transcripts	NG_011594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001079812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001314007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416885	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054351936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054351937	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209482	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB839039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF051782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY007129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY360322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY363395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ945734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA593734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ067452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ067453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC180357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000253811 ⟹ ENSP00000253811

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,022 - 141,619,055 (-)	Ensembl

Ensembl Acc Id:

ENST00000389054 ⟹ ENSP00000373706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,021 - 141,619,000 (-)	Ensembl

Ensembl Acc Id:

ENST00000389057 ⟹ ENSP00000373709

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,022 - 141,619,055 (-)	Ensembl

Ensembl Acc Id:

ENST00000398557 ⟹ ENSP00000381565

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,022 - 141,619,055 (-)	Ensembl

Ensembl Acc Id:

ENST00000448451 ⟹ ENSP00000408159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,055 - 141,524,510 (-)	Ensembl

Ensembl Acc Id:

ENST00000468119 ⟹ ENSP00000493546

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,516,572 - 141,524,770 (-)	Ensembl

Ensembl Acc Id:

ENST00000472516

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,577,989 - 141,579,129 (-)	Ensembl

Ensembl Acc Id:

ENST00000476339

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,016 - 141,524,755 (-)	Ensembl

Ensembl Acc Id:

ENST00000491754

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,528,544 - 141,560,701 (-)	Ensembl

Ensembl Acc Id:

ENST00000494967

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,528,545 - 141,534,488 (-)	Ensembl

Ensembl Acc Id:

ENST00000518047 ⟹ ENSP00000428268

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,975 - 141,618,914 (-)	Ensembl

Ensembl Acc Id:

ENST00000518484

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,528,800 - 141,557,854 (-)	Ensembl

Ensembl Acc Id:

ENST00000523100 ⟹ ENSP00000428208

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,577,493 - 141,618,999 (-)	Ensembl

Ensembl Acc Id:

ENST00000524301

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,583,519 - 141,587,485 (-)	Ensembl

Ensembl Acc Id:

ENST00000643312 ⟹ ENSP00000495191

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,516,625 - 141,524,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000643718

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,073 - 141,524,729 (-)	Ensembl

Ensembl Acc Id:

ENST00000647330 ⟹ ENSP00000494308

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,574,032 - 141,587,176 (-)	Ensembl

Ensembl Acc Id:

ENST00000647433 ⟹ ENSP00000494675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,515,021 - 141,619,055 (-)	Ensembl

RefSeq Acc Id:

NM_001079812 ⟹ NP_001073280

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,515,021 - 141,619,000 (-)	NCBI
GRCh37	5	140,894,588 - 140,998,622 (-)	ENTREZGENE
Build 36	5	140,874,772 - 140,978,747 (-)	NCBI Archive
HuRef	5	136,039,428 - 136,143,262 (-)	ENTREZGENE
CHM1_1	5	140,327,865 - 140,431,904 (-)	NCBI
T2T-CHM13v2.0	5	142,041,005 - 142,145,005 (-)	NCBI

Sequence:

show sequence

TAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTGCCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGGACC
CGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTCTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTC
TGCTCATAGAAATTCTTCTGCATCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAGA
AACAGCAACCTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCTGGCATGAGCCAGAAGGAGAGCTCTAAGTCTGCCATGATGTATATTCAGGAG
TTGAGGTCAGGCTTGCGGGATATGCCTCTGCTCAGCTGCCTGGAGTCCCTTCGTGTGTCTCTCAACAACAACCCTGTCAGTTGGGTGCAAACATTTGGTGCTGAAGGCTTGGCCTCCTTATTGGACAT
TCTTAAACGACTTCATGATGAGAAAGAAGAGACTGCTGGGAGTTACGATAGCCGGAACAAGCATGAGATCATTCGCTGCTTGAAAGCTTTTATGAACAACAAGTTTGGAATCAAGACCATGTTGGAGA
CAGAAGAAGGAATCCTACTGCTGGTCAGAGCCATGGATCCTGCTGTTCCCAACATGATGATTGATGCAGCTAAGCTGCTTTCTGCTCTTTGTATTCTACCGCAGCCAGAGGACATGAATGAAAGGGTT
TTGGAGGCAATGACAGAAAGAGCTGAGATGGATGAAGTGGAACGTTTCCAGCCGCTGCTGGATGGATTAAAAAGTGGAACCACTATTGCACTGAAGGTTGGATGCCTACAGCTGATCAATGCTCTCAT
CACACCAGCGGAGGAACTTGACTTCCGAGTTCACATCAGAAGTGAACTGATGCGTTTGGGGCTACATCAGGTGTTGCAGGACCTTCGAGAGATTGAAAATGAAGATATGAGAGTGCAACTAAATGTGT
TTGATGAACAAGGGGAAGAGGATTCCTATGACCTGAAGGGACGGCTGGATGACATTCGCATGGAGATGGATGACTTTAATGAAGTCTTTCAGATTCTCTTAAACACAGTGAAGGATTCAAAGGCAGAG
CCACACTTCCTTTCCATCCTGCAGCACTTACTCTTGGTCCGAAATGACTATGAGGCCAGACCTCAGTACTATAAGTTGATTGAAGAATGTATTTCCCAGATAGTTCTGCACAAGAACGGGGCTGATCC
TGACTTCAAGTGCCGGCACCTCCAGATTGAGATTGAGGGATTAATTGATCAAATGATTGATAAGACAAAGGTGGAGAAATCTGAAGCCAAAGCTGCAGAGCTGGAAAAGAAGTTGGACTCAGAGTTAA
CAGCCCGACATGAGCTACAGGTGGAAATGAAAAAGATGGAAAGTGACTTTGAGCAGAAGCTTCAAGATCTTCAGGGAGAAAAAGATGCACTGCATTCTGAAAAGCAGCAAATTGCCACAGAGAAACAG
GACCTGGAAGCAGAGGTGTCCCAGCTCACAGGAGAGGTTGCCAAGCTGACAAAGGAACTGGAAGATGCCAAGAAAGAAATGGCTTCCCTCTCTGCGGCAGCTATTACTGTACCTCCTTCTGTTCCTAG
TCGTGCTCCTGTTCCCCCTGCCCCTCCTTTACCTGGTGACTCTGGCACTATTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTT
TGCCTGGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGAGGGTGTTGGCATC
CCTTCACCCTCTTCTTTGCCTGGAGGTACTGCCATCCCCCCACCTCCTCCTTTGCCTGGGAGTGCTAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCCCCACCTCCTCC
CTTGCCTGGAGAAGCAGGAATGCCACCTCCTCCTCCCCCTCTTCCTGGTGGTCCTGGAATCCCTCCACCTCCTCCATTTCCCGGAGGCCCTGGCATTCCTCCACCTCCACCCGGAATGGGTATGCCTC
CACCTCCCCCATTTGGATTTGGAGTTCCTGCAGCCCCAGTTCTGCCATTTGGATTAACCCCCAAAAAGCTTTATAAGCCAGAGGTGCAGCTCCGGAGGCCAAACTGGTCCAAGCTTGTGGCTGAGGAC
CTCTCCCAGGACTGCTTCTGGACAAAGGTGAAGGAGGACCGCTTTGAGAACAATGAACTTTTCGCCAAACTTACCCTTACCTTCTCTGCCCAGACCAAGACTTCCAAAGCCAAGAAGGATCAAGAAGG
TGGAGAAGAAAAGAAATCTGTGCAAAAGAAAAAAGTAAAAGAGTTAAAGGTGTTGGATTCAAAGACAGCCCAGAATCTCTCAATCTTTTTGGGTTCCTTCCGCATGCCCTATCAAGAGATTAAGAATG
TCATCCTGGAGGTGAATGAGGCTGTTCTGACTGAGTCTATGATCCAGAACCTCATTAAGCAAATGCCAGAGCCAGAGCAGTTAAAAATGCTTTCTGAACTGAAGGATGAATATGATGACCTGGCTGAG
TCAGAGCAGTTTGGCGTGGTGATGGGCACTGTGCCCCGACTGCGGCCTCGCCTCAATGCCATTCTCTTCAAGCTACAATTCAGCGAGCAAGTGGAGAATATCAAGCCAGAGATTGTGTCTGTCACTGC
TGCATGTGAGGAGTTACGTAAGAGTGAGAGCTTTTCCAATCTCCTAGAGATTACCTTGCTTGTTGGAAATTACATGAATGCTGGCTCCAGAAATGCTGGTGCTTTTGGCTTCAATATCAGCTTCCTCT
GTAAGCTTCGAGACACCAAGTCCACAGATCAGAAGATGACGTTGTTACACTTCTTGGCTGAGTTGTGTGAGAATGACTATCCCGATGTCCTCAAGTTTCCAGACGAGCTTGCCCATGTGGAGAAAGCC
AGCCGAGTTTCTGCTGAAAACTTGCAAAAGAACCTAGATCAGATGAAGAAACAAATTTCTGATGTGGAACGTGATGTTCAGAATTTCCCAGCTGCCACAGATGAAAAAGACAAGTTTGTTGAAAAAAT
GACCAGCTTTGTGAAGGATGCACAGGAACAGTATAACAAGCTGCGGATGATGCATTCTAACATGGAGACCCTCTATAAGGAGCTGGGCGAGTACTTCCTCTTTGACCCCAAGAAGTTGTCTGTTGAAG
AATTTTTCATGGATCTTCACAATTTTCGGAATATGTTTTTGCAAGCAGTCAAGGAGAACCAGAAGCGGCGGGAGACAGAAGAAAAGATGAGGCGAGCAAAACTAGCCAAGGAGAAGGCAGAGAAGGAG
CGGCTAGAGAAGCAGCAGAAGAGAGAGCAACTCATAGACATGAATGCAGAGGGCGATGAGACAGGTGTGATGGACAGTCTTCTAGAAGCCCTGCAGTCAGGGGCAGCATTCCGACGGAAGAGAGGGCC
CCGTCAAGCCAACAGGAAGGCCGGGTGTGCAGTCACATCTCTGCTAGCTTCGGAGCTGACCAAGGATGATGCCATGGCTGCTGTTCCTGCCAAGGTGTCCAAGAACAGTGAGACATTCCCCACAATCC
TTGAGGAAGCCAAGGAGTTGGTTGGCCGTGCAAGCTAATGTGGGTCCTGTGACCGCGGCAGCTCCTCAGCGGAGCCGCAGACTGTCCTGCCCTGCAGCATGTGCCTAAAGGCTCAAGGGGATATTCCT
CTGGGGTGGCCACTCCCACCACCCTGACCCTGTCTTTCTCTCTGGCCTGCTGCTCTCTCAACATCACATACAGCTTCAGCTGCCTGGAGGCCAGAAGGAAAGGGCAGTGCAGGGGAGGCCTGAGCCCG
ACTTAGCCAGCCCTGGCTGTTGTATTACCAAAGCAGGGTCCATGTTTGCTGCCTTAACCCTGTCTCCTCTCTGTTACTCAGAGGGCCTCATCTCAGACAAGGCCCAGCCTGCTTTTTCTCAGCCCTGA
CTTTCTAATGGGCTTTCCCCCCTAGGTCAGTCTTGCTGGATTTGTGCTTTTCTTTTGTGGTTTCTCTGGCCCTGAGAATAGCATGGGGCTTGTAAACCTTTGGGCTAGATCCCTCCTTTCATTGCTGT
TGTCTCTGCTCTTCCCTCTCCTGGCTGTGGTTATTTATTATTAGTGGTGTGGCACTGGGAGCTGCTCCTAAGGAAGCAGGGAGCAAATCCCACCTTTACCCCACCTTCCTGGGAAAGGCCTCCAAAGC
AAAGGATCTGGACCAGTTTCCCTGCTGTGCTGTGGCCCAGGCCAGAGCCTGTGGGCAGGCAGGCAGGGCATAGCGACAGTGTGGGACCTGCCCCCAGCTTCTGCCACGCTTTATGCCCTTGCCTCTCT
GGACGCTCTGCACCAACCCCAGGCTACTGAGCCACCTTCCCTCCTCATGCCTTCCCTGAGCTTTGGTGCATCTCATCTGGACTATGGGTTGTACTGTGACCATCCCAACACCTCACCCTCTGTCTACA
AGGAAATGGGAGGTGGAGCCTCCTGGCTGAGAAATTGTTTTGCAAATGGATCTATTTTTGTATGAAAAAAAAAATTTTTTTAAAGAAAACTGTTCCTTCCCCCTTTCCCCTCCATAATGTAAGAAGCT
TTGGTGGCAGGTTACAGAGTTCTGGGATTTCTTCTCACAGGCCCAATCCTGAATGTGCCCCTGGACCTTCTGGACCCTTGAGTCCAAGGCAGATCCTCTCTCCCAGGGAATCCGACACAGGAGGAACC
CCTTCTCTGGTTGAGCTGGGCCAGGCCTAAGAGTAGCAGGAACTCTAAGACCACAGAGTTTTTTATAAATGTATAAATGTATCAAGCCAAATGTGCAGATGCTAACTGGACATTCTGGGGAACTGGGC
ACCAGGAGTGCCTTCATACACTGTACCCCAGCTCTCTTCTAAAAGAGAAGTGGGTGGGCACACTGAACTGTTTGGTGGCCCCAACCACAGGAAGCTGCAATTCTCTGGCTTAGGGTGATACTTTTGCC
CTCCTTGTGCCCCTCTCAGCTTTCCATCCCCAGCTAGGAAGAAAGAATGGCACTCTTGGGCTTGGCCCAGAATTAGAGTTATTAGAGCAAGAGAGAGCTTAGGAAGCATGAGGGCAACTATAGTGAGG
CCTTATTGCCAGGAGGGAGGGTTTTGGTTGCTGGCGCTTGTGTATAAAGGGGCAAGAGCAGCTCCTTTGGACTATTCCTGGGAGGACTCTGATGCAGGGCGTCTGTTGCTCCCCTGGGTCACCTCCTC
CCTGCTCGCTGACATCTGGGGCTTTGACCCTTTCTTTTTTAATCTACTTTTGCTAAGATGCATTTAATAAAAAAAAAGAGAGAGAGAGAGAGGTGTGAGGGACAAAATGCAAACCTATTTCCCTTGCC
TCATAGGCTTCTGGGATGTCATCACCTCCAGTTTGTTGGTTTTGTTTCCAACTGTTAATAAAGCATTGAAACAGTA

hide sequence

RefSeq Acc Id:

NM_001314007 ⟹ NP_001300936

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,515,021 - 141,619,000 (-)	NCBI
CHM1_1	5	140,327,865 - 140,431,904 (-)	NCBI
T2T-CHM13v2.0	5	142,041,005 - 142,145,005 (-)	NCBI

Sequence:

show sequence

TAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTGCCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGGACC
CGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTACTCTGAAGCGGCTCATGGCAGATGAGCTGGAGAGATTTACCAGCATGAGAAT
TAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCATCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGC
TGCTGGATATGAACCTGAATGAGGAGAAACAGCAACCTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCTGGCATGAGCCAGAAGGAGAGCTCT
AAGTCTGCCATGATGTATATTCAGGAGTTGAGGTCAGGCTTGCGGGATATGCCTCTGCTCAGCTGCCTGGAGTCCCTTCGTGTGTCTCTCAACAACAACCCTGTCAGTTGGGTGCAAACATTTGGTGC
TGAAGGCTTGGCCTCCTTATTGGACATTCTTAAACGACTTCATGATGAGAAAGAAGAGACTGCTGGGAGTTACGATAGCCGGAACAAGCATGAGATCATTCGCTGCTTGAAAGCTTTTATGAACAACA
AGTTTGGAATCAAGACCATGTTGGAGACAGAAGAAGGAATCCTACTGCTGGTCAGAGCCATGGATCCTGCTGTTCCCAACATGATGATTGATGCAGCTAAGCTGCTTTCTGCTCTTTGTATTCTACCG
CAGCCAGAGGACATGAATGAAAGGGTTTTGGAGGCAATGACAGAAAGAGCTGAGATGGATGAAGTGGAACGTTTCCAGCCGCTGCTGGATGGATTAAAAAGTGGAACCACTATTGCACTGAAGGTTGG
ATGCCTACAGCTGATCAATGCTCTCATCACACCAGCGGAGGAACTTGACTTCCGAGTTCACATCAGAAGTGAACTGATGCGTTTGGGGCTACATCAGGTGTTGCAGGACCTTCGAGAGATTGAAAATG
AAGATATGAGAGTGCAACTAAATGTGTTTGATGAACAAGGGGAAGAGGATTCCTATGACCTGAAGGGACGGCTGGATGACATTCGCATGGAGATGGATGACTTTAATGAAGTCTTTCAGATTCTCTTA
AACACAGTGAAGGATTCAAAGGCAGAGCCACACTTCCTTTCCATCCTGCAGCACTTACTCTTGGTCCGAAATGACTATGAGGCCAGACCTCAGTACTATAAGTTGATTGAAGAATGTATTTCCCAGAT
AGTTCTGCACAAGAACGGGGCTGATCCTGACTTCAAGTGCCGGCACCTCCAGATTGAGATTGAGGGATTAATTGATCAAATGATTGATAAGACAAAGGTGGAGAAATCTGAAGCCAAAGCTGCAGAGC
TGGAAAAGAAGTTGGACTCAGAGTTAACAGCCCGACATGAGCTACAGGTGGAAATGAAAAAGATGGAAAGTGACTTTGAGCAGAAGCTTCAAGATCTTCAGGGAGAAAAAGATGCACTGCATTCTGAA
AAGCAGCAAATTGCCACAGAGAAACAGGACCTGGAAGCAGAGGTGTCCCAGCTCACAGGAGAGGTTGCCAAGCTGACAAAGGAACTGGAAGATGCCAAGAAAGAAATGGCTTCCCTCTCTGCGGCAGC
TATTACTGTACCTCCTTCTGTTCCTAGTCGTGCTCCTGTTCCCCCTGCCCCTCCTTTACCTGGTGACTCTGGCACTATTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTCCTCCTCCTCCTC
CTCCTCCTCCTCCTCCTCCACCTCCTTTGCCTGGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCC
CCTCCTTTGCCTGAGGGTGTTGGCATCCCTTCACCCTCTTCTTTGCCTGGAGGTACTGCCATCCCCCCACCTCCTCCTTTGCCTGGGAGTGCTAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAG
TGCTGGAATTCCCCCCCCACCTCCTCCCTTGCCTGGAGAAGCAGGAATGCCACCTCCTCCTCCCCCTCTTCCTGGTGGTCCTGGAATCCCTCCACCTCCTCCATTTCCCGGAGGCCCTGGCATTCCTC
CACCTCCACCCGGAATGGGTATGCCTCCACCTCCCCCATTTGGATTTGGAGTTCCTGCAGCCCCAGTTCTGCCATTTGGATTAACCCCCAAAAAGCTTTATAAGCCAGAGGTGCAGCTCCGGAGGCCA
AACTGGTCCAAGCTTGTGGCTGAGGACCTCTCCCAGGACTGCTTCTGGACAAAGGTGAAGGAGGACCGCTTTGAGAACAATGAACTTTTCGCCAAACTTACCCTTACCTTCTCTGCCCAGACCAAGAC
TTCCAAAGCCAAGAAGGATCAAGAAGGTGGAGAAGAAAAGAAATCTGTGCAAAAGAAAAAAGTAAAAGAGTTAAAGGTGTTGGATTCAAAGACAGCCCAGAATCTCTCAATCTTTTTGGGTTCCTTCC
GCATGCCCTATCAAGAGATTAAGAATGTCATCCTGGAGGTGAATGAGGCTGTTCTGACTGAGTCTATGATCCAGAACCTCATTAAGCAAATGCCAGAGCCAGAGCAGTTAAAAATGCTTTCTGAACTG
AAGGATGAATATGATGACCTGGCTGAGTCAGAGCAGTTTGGCGTGGTGATGGGCACTGTGCCCCGACTGCGGCCTCGCCTCAATGCCATTCTCTTCAAGCTACAATTCAGCGAGCAAGTGGAGAATAT
CAAGCCAGAGATTGTGTCTGTCACTGCTGCATGTGAGGAGTTACGTAAGAGTGAGAGCTTTTCCAATCTCCTAGAGATTACCTTGCTTGTTGGAAATTACATGAATGCTGGCTCCAGAAATGCTGGTG
CTTTTGGCTTCAATATCAGCTTCCTCTGTAAGCTTCGAGACACCAAGTCCACAGATCAGAAGATGACGTTGTTACACTTCTTGGCTGAGTTGTGTGAGAATGACTATCCCGATGTCCTCAAGTTTCCA
GACGAGCTTGCCCATGTGGAGAAAGCCAGCCGAGTTTCTGCTGAAAACTTGCAAAAGAACCTAGATCAGATGAAGAAACAAATTTCTGATGTGGAACGTGATGTTCAGAATTTCCCAGCTGCCACAGA
TGAAAAAGACAAGTTTGTTGAAAAAATGACCAGCTTTGTGAAGGATGCACAGGAACAGTATAACAAGCTGCGGATGATGCATTCTAACATGGAGACCCTCTATAAGGAGCTGGGCGAGTACTTCCTCT
TTGACCCCAAGAAGTTGTCTGTTGAAGAATTTTTCATGGATCTTCACAATTTTCGGAATATGTTTTTGCAAGCAGTCAAGGAGAACCAGAAGCGGCGGGAGACAGAAGAAAAGATGAGGCGAGCAAAA
CTAGCCAAGGAGAAGGCAGAGAAGGAGCGGCTAGAGAAGCAGCAGAAGAGAGAGCAACTCATAGACATGAATGCAGAGGGCGATGAGACAGGTGTGATGGACAGTCTTCTAGAAGCCCTGCAGTCAGG
GGCAGCATTCCGACGGAAGAGAGGGCCCCGTCAAGACAACCTCTTGTGCCCCTGGGAAGTAGAGGAGGAGGAGGAGACCTTTAAATTGCCAACAGGAAGGCCGGGTGTGCAGTCACATCTCTGCTAGC
TTCGGAGCTGACCAAGGATGATGCCATGGCTGCTGTTCCTGCCAAGGTGTCCAAGAACAGTGAGACATTCCCCACAATCCTTGAGGAAGCCAAGGAGTTGGTTGGCCGTGCAAGCTAATGTGGGTCCT
GTGACCGCGGCAGCTCCTCAGCGGAGCCGCAGACTGTCCTGCCCTGCAGCATGTGCCTAAAGGCTCAAGGGGATATTCCTCTGGGGTGGCCACTCCCACCACCCTGACCCTGTCTTTCTCTCTGGCCT
GCTGCTCTCTCAACATCACATACAGCTTCAGCTGCCTGGAGGCCAGAAGGAAAGGGCAGTGCAGGGGAGGCCTGAGCCCGACTTAGCCAGCCCTGGCTGTTGTATTACCAAAGCAGGGTCCATGTTTG
CTGCCTTAACCCTGTCTCCTCTCTGTTACTCAGAGGGCCTCATCTCAGACAAGGCCCAGCCTGCTTTTTCTCAGCCCTGACTTTCTAATGGGCTTTCCCCCCTAGGTCAGTCTTGCTGGATTTGTGCT
TTTCTTTTGTGGTTTCTCTGGCCCTGAGAATAGCATGGGGCTTGTAAACCTTTGGGCTAGATCCCTCCTTTCATTGCTGTTGTCTCTGCTCTTCCCTCTCCTGGCTGTGGTTATTTATTATTAGTGGT
GTGGCACTGGGAGCTGCTCCTAAGGAAGCAGGGAGCAAATCCCACCTTTACCCCACCTTCCTGGGAAAGGCCTCCAAAGCAAAGGATCTGGACCAGTTTCCCTGCTGTGCTGTGGCCCAGGCCAGAGC
CTGTGGGCAGGCAGGCAGGGCATAGCGACAGTGTGGGACCTGCCCCCAGCTTCTGCCACGCTTTATGCCCTTGCCTCTCTGGACGCTCTGCACCAACCCCAGGCTACTGAGCCACCTTCCCTCCTCAT
GCCTTCCCTGAGCTTTGGTGCATCTCATCTGGACTATGGGTTGTACTGTGACCATCCCAACACCTCACCCTCTGTCTACAAGGAAATGGGAGGTGGAGCCTCCTGGCTGAGAAATTGTTTTGCAAATG
GATCTATTTTTGTATGAAAAAAAAAATTTTTTTAAAGAAAACTGTTCCTTCCCCCTTTCCCCTCCATAATGTAAGAAGCTTTGGTGGCAGGTTACAGAGTTCTGGGATTTCTTCTCACAGGCCCAATC
CTGAATGTGCCCCTGGACCTTCTGGACCCTTGAGTCCAAGGCAGATCCTCTCTCCCAGGGAATCCGACACAGGAGGAACCCCTTCTCTGGTTGAGCTGGGCCAGGCCTAAGAGTAGCAGGAACTCTAA
GACCACAGAGTTTTTTATAAATGTATAAATGTATCAAGCCAAATGTGCAGATGCTAACTGGACATTCTGGGGAACTGGGCACCAGGAGTGCCTTCATACACTGTACCCCAGCTCTCTTCTAAAAGAGA
AGTGGGTGGGCACACTGAACTGTTTGGTGGCCCCAACCACAGGAAGCTGCAATTCTCTGGCTTAGGGTGATACTTTTGCCCTCCTTGTGCCCCTCTCAGCTTTCCATCCCCAGCTAGGAAGAAAGAAT
GGCACTCTTGGGCTTGGCCCAGAATTAGAGTTATTAGAGCAAGAGAGAGCTTAGGAAGCATGAGGGCAACTATAGTGAGGCCTTATTGCCAGGAGGGAGGGTTTTGGTTGCTGGCGCTTGTGTATAAA
GGGGCAAGAGCAGCTCCTTTGGACTATTCCTGGGAGGACTCTGATGCAGGGCGTCTGTTGCTCCCCTGGGTCACCTCCTCCCTGCTCGCTGACATCTGGGGCTTTGACCCTTTCTTTTTTAATCTACT
TTTGCTAAGATGCATTTAATAAAAAAAAAGAGAGAGAGAGAGAGGTGTGAGGGACAAAATGCAAACCTATTTCCCTTGCCTCATAGGCTTCTGGGATGTCATCACCTCCAGTTTGTTGGTTTTGTTTC
CAACTGTTAATAAAGCATTGAAACAGTA

hide sequence

RefSeq Acc Id:

NM_005219 ⟹ NP_005210

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,515,021 - 141,619,000 (-)	NCBI
GRCh37	5	140,894,588 - 140,998,622 (-)	ENTREZGENE
Build 36	5	140,874,772 - 140,978,747 (-)	NCBI Archive
HuRef	5	136,039,428 - 136,143,262 (-)	ENTREZGENE
CHM1_1	5	140,327,865 - 140,431,904 (-)	NCBI
T2T-CHM13v2.0	5	142,041,005 - 142,145,005 (-)	NCBI

Sequence:

show sequence

TAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTGCCAGGCGGGAGCGGCGTAGGCGCGGGGTC
GCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGGACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAAT
CTAAGAAATTTACTCTGAAGCGGCTCATGGCAGATGAGCTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCATCATATGGGGATGAT
CCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAGAAACAGCAACCTTTGAGGGAGAAGGACATCATCATCAA
GAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCTGGCATGAGCCAGAAGGAGAGCTCTAAGTCTGCCATGATGTATATTCAGGAGTTGAGGTCAGGCTTGCGGGATATGCCTCTGCTCAGCT
GCCTGGAGTCCCTTCGTGTGTCTCTCAACAACAACCCTGTCAGTTGGGTGCAAACATTTGGTGCTGAAGGCTTGGCCTCCTTATTGGACATTCTTAAACGACTTCATGATGAGAAAGAAGAGACTGCT
GGGAGTTACGATAGCCGGAACAAGCATGAGATCATTCGCTGCTTGAAAGCTTTTATGAACAACAAGTTTGGAATCAAGACCATGTTGGAGACAGAAGAAGGAATCCTACTGCTGGTCAGAGCCATGGA
TCCTGCTGTTCCCAACATGATGATTGATGCAGCTAAGCTGCTTTCTGCTCTTTGTATTCTACCGCAGCCAGAGGACATGAATGAAAGGGTTTTGGAGGCAATGACAGAAAGAGCTGAGATGGATGAAG
TGGAACGTTTCCAGCCGCTGCTGGATGGATTAAAAAGTGGAACCACTATTGCACTGAAGGTTGGATGCCTACAGCTGATCAATGCTCTCATCACACCAGCGGAGGAACTTGACTTCCGAGTTCACATC
AGAAGTGAACTGATGCGTTTGGGGCTACATCAGGTGTTGCAGGACCTTCGAGAGATTGAAAATGAAGATATGAGAGTGCAACTAAATGTGTTTGATGAACAAGGGGAAGAGGATTCCTATGACCTGAA
GGGACGGCTGGATGACATTCGCATGGAGATGGATGACTTTAATGAAGTCTTTCAGATTCTCTTAAACACAGTGAAGGATTCAAAGGCAGAGCCACACTTCCTTTCCATCCTGCAGCACTTACTCTTGG
TCCGAAATGACTATGAGGCCAGACCTCAGTACTATAAGTTGATTGAAGAATGTATTTCCCAGATAGTTCTGCACAAGAACGGGGCTGATCCTGACTTCAAGTGCCGGCACCTCCAGATTGAGATTGAG
GGATTAATTGATCAAATGATTGATAAGACAAAGGTGGAGAAATCTGAAGCCAAAGCTGCAGAGCTGGAAAAGAAGTTGGACTCAGAGTTAACAGCCCGACATGAGCTACAGGTGGAAATGAAAAAGAT
GGAAAGTGACTTTGAGCAGAAGCTTCAAGATCTTCAGGGAGAAAAAGATGCACTGCATTCTGAAAAGCAGCAAATTGCCACAGAGAAACAGGACCTGGAAGCAGAGGTGTCCCAGCTCACAGGAGAGG
TTGCCAAGCTGACAAAGGAACTGGAAGATGCCAAGAAAGAAATGGCTTCCCTCTCTGCGGCAGCTATTACTGTACCTCCTTCTGTTCCTAGTCGTGCTCCTGTTCCCCCTGCCCCTCCTTTACCTGGT
GACTCTGGCACTATTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTTTGCCTGGGGGTGTTTGCATCTCCTCACCCCCTTCTTT
ACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGAGGGTGTTGGCATCCCTTCACCCTCTTCTTTGCCTGGAGGTACTGCCATCC
CCCCACCTCCTCCTTTGCCTGGGAGTGCTAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCCCCACCTCCTCCCTTGCCTGGAGAAGCAGGAATGCCACCTCCTCCTCCC
CCTCTTCCTGGTGGTCCTGGAATCCCTCCACCTCCTCCATTTCCCGGAGGCCCTGGCATTCCTCCACCTCCACCCGGAATGGGTATGCCTCCACCTCCCCCATTTGGATTTGGAGTTCCTGCAGCCCC
AGTTCTGCCATTTGGATTAACCCCCAAAAAGCTTTATAAGCCAGAGGTGCAGCTCCGGAGGCCAAACTGGTCCAAGCTTGTGGCTGAGGACCTCTCCCAGGACTGCTTCTGGACAAAGGTGAAGGAGG
ACCGCTTTGAGAACAATGAACTTTTCGCCAAACTTACCCTTACCTTCTCTGCCCAGACCAAGACTTCCAAAGCCAAGAAGGATCAAGAAGGTGGAGAAGAAAAGAAATCTGTGCAAAAGAAAAAAGTA
AAAGAGTTAAAGGTGTTGGATTCAAAGACAGCCCAGAATCTCTCAATCTTTTTGGGTTCCTTCCGCATGCCCTATCAAGAGATTAAGAATGTCATCCTGGAGGTGAATGAGGCTGTTCTGACTGAGTC
TATGATCCAGAACCTCATTAAGCAAATGCCAGAGCCAGAGCAGTTAAAAATGCTTTCTGAACTGAAGGATGAATATGATGACCTGGCTGAGTCAGAGCAGTTTGGCGTGGTGATGGGCACTGTGCCCC
GACTGCGGCCTCGCCTCAATGCCATTCTCTTCAAGCTACAATTCAGCGAGCAAGTGGAGAATATCAAGCCAGAGATTGTGTCTGTCACTGCTGCATGTGAGGAGTTACGTAAGAGTGAGAGCTTTTCC
AATCTCCTAGAGATTACCTTGCTTGTTGGAAATTACATGAATGCTGGCTCCAGAAATGCTGGTGCTTTTGGCTTCAATATCAGCTTCCTCTGTAAGCTTCGAGACACCAAGTCCACAGATCAGAAGAT
GACGTTGTTACACTTCTTGGCTGAGTTGTGTGAGAATGACTATCCCGATGTCCTCAAGTTTCCAGACGAGCTTGCCCATGTGGAGAAAGCCAGCCGAGTTTCTGCTGAAAACTTGCAAAAGAACCTAG
ATCAGATGAAGAAACAAATTTCTGATGTGGAACGTGATGTTCAGAATTTCCCAGCTGCCACAGATGAAAAAGACAAGTTTGTTGAAAAAATGACCAGCTTTGTGAAGGATGCACAGGAACAGTATAAC
AAGCTGCGGATGATGCATTCTAACATGGAGACCCTCTATAAGGAGCTGGGCGAGTACTTCCTCTTTGACCCCAAGAAGTTGTCTGTTGAAGAATTTTTCATGGATCTTCACAATTTTCGGAATATGTT
TTTGCAAGCAGTCAAGGAGAACCAGAAGCGGCGGGAGACAGAAGAAAAGATGAGGCGAGCAAAACTAGCCAAGGAGAAGGCAGAGAAGGAGCGGCTAGAGAAGCAGCAGAAGAGAGAGCAACTCATAG
ACATGAATGCAGAGGGCGATGAGACAGGTGTGATGGACAGTCTTCTAGAAGCCCTGCAGTCAGGGGCAGCATTCCGACGGAAGAGAGGGCCCCGTCAAGCCAACAGGAAGGCCGGGTGTGCAGTCACA
TCTCTGCTAGCTTCGGAGCTGACCAAGGATGATGCCATGGCTGCTGTTCCTGCCAAGGTGTCCAAGAACAGTGAGACATTCCCCACAATCCTTGAGGAAGCCAAGGAGTTGGTTGGCCGTGCAAGCTA
ATGTGGGTCCTGTGACCGCGGCAGCTCCTCAGCGGAGCCGCAGACTGTCCTGCCCTGCAGCATGTGCCTAAAGGCTCAAGGGGATATTCCTCTGGGGTGGCCACTCCCACCACCCTGACCCTGTCTTT
CTCTCTGGCCTGCTGCTCTCTCAACATCACATACAGCTTCAGCTGCCTGGAGGCCAGAAGGAAAGGGCAGTGCAGGGGAGGCCTGAGCCCGACTTAGCCAGCCCTGGCTGTTGTATTACCAAAGCAGG
GTCCATGTTTGCTGCCTTAACCCTGTCTCCTCTCTGTTACTCAGAGGGCCTCATCTCAGACAAGGCCCAGCCTGCTTTTTCTCAGCCCTGACTTTCTAATGGGCTTTCCCCCCTAGGTCAGTCTTGCT
GGATTTGTGCTTTTCTTTTGTGGTTTCTCTGGCCCTGAGAATAGCATGGGGCTTGTAAACCTTTGGGCTAGATCCCTCCTTTCATTGCTGTTGTCTCTGCTCTTCCCTCTCCTGGCTGTGGTTATTTA
TTATTAGTGGTGTGGCACTGGGAGCTGCTCCTAAGGAAGCAGGGAGCAAATCCCACCTTTACCCCACCTTCCTGGGAAAGGCCTCCAAAGCAAAGGATCTGGACCAGTTTCCCTGCTGTGCTGTGGCC
CAGGCCAGAGCCTGTGGGCAGGCAGGCAGGGCATAGCGACAGTGTGGGACCTGCCCCCAGCTTCTGCCACGCTTTATGCCCTTGCCTCTCTGGACGCTCTGCACCAACCCCAGGCTACTGAGCCACCT
TCCCTCCTCATGCCTTCCCTGAGCTTTGGTGCATCTCATCTGGACTATGGGTTGTACTGTGACCATCCCAACACCTCACCCTCTGTCTACAAGGAAATGGGAGGTGGAGCCTCCTGGCTGAGAAATTG
TTTTGCAAATGGATCTATTTTTGTATGAAAAAAAAAATTTTTTTAAAGAAAACTGTTCCTTCCCCCTTTCCCCTCCATAATGTAAGAAGCTTTGGTGGCAGGTTACAGAGTTCTGGGATTTCTTCTCA
CAGGCCCAATCCTGAATGTGCCCCTGGACCTTCTGGACCCTTGAGTCCAAGGCAGATCCTCTCTCCCAGGGAATCCGACACAGGAGGAACCCCTTCTCTGGTTGAGCTGGGCCAGGCCTAAGAGTAGC
AGGAACTCTAAGACCACAGAGTTTTTTATAAATGTATAAATGTATCAAGCCAAATGTGCAGATGCTAACTGGACATTCTGGGGAACTGGGCACCAGGAGTGCCTTCATACACTGTACCCCAGCTCTCT
TCTAAAAGAGAAGTGGGTGGGCACACTGAACTGTTTGGTGGCCCCAACCACAGGAAGCTGCAATTCTCTGGCTTAGGGTGATACTTTTGCCCTCCTTGTGCCCCTCTCAGCTTTCCATCCCCAGCTAG
GAAGAAAGAATGGCACTCTTGGGCTTGGCCCAGAATTAGAGTTATTAGAGCAAGAGAGAGCTTAGGAAGCATGAGGGCAACTATAGTGAGGCCTTATTGCCAGGAGGGAGGGTTTTGGTTGCTGGCGC
TTGTGTATAAAGGGGCAAGAGCAGCTCCTTTGGACTATTCCTGGGAGGACTCTGATGCAGGGCGTCTGTTGCTCCCCTGGGTCACCTCCTCCCTGCTCGCTGACATCTGGGGCTTTGACCCTTTCTTT
TTTAATCTACTTTTGCTAAGATGCATTTAATAAAAAAAAAGAGAGAGAGAGAGAGGTGTGAGGGACAAAATGCAAACCTATTTCCCTTGCCTCATAGGCTTCTGGGATGTCATCACCTCCAGTTTGTT
GGTTTTGTTTCCAACTGTTAATAAAGCATTGAAACAGTA

hide sequence

RefSeq Acc Id:

XM_047416884 ⟹ XP_047272840

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,515,021 - 141,588,162 (-)	NCBI

RefSeq Acc Id:

XM_047416885 ⟹ XP_047272841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,515,021 - 141,618,296 (-)	NCBI

RefSeq Acc Id:

XM_054351936 ⟹ XP_054207911

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	142,041,005 - 142,114,151 (-)	NCBI

RefSeq Acc Id:

XM_054351937 ⟹ XP_054207912

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	142,041,005 - 142,144,301 (-)	NCBI


Protein RefSeqs	NP_001073280	(Get FASTA)	NCBI Sequence Viewer
	NP_001300936	(Get FASTA)	NCBI Sequence Viewer
	NP_005210	(Get FASTA)	NCBI Sequence Viewer
	XP_047272840	(Get FASTA)	NCBI Sequence Viewer
	XP_047272841	(Get FASTA)	NCBI Sequence Viewer
	XP_054207911	(Get FASTA)	NCBI Sequence Viewer
	XP_054207912	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC05373	(Get FASTA)	NCBI Sequence Viewer
	AAH07411	(Get FASTA)	NCBI Sequence Viewer
	AAI17258	(Get FASTA)	NCBI Sequence Viewer
	AAI43414	(Get FASTA)	NCBI Sequence Viewer
	AAP35982	(Get FASTA)	NCBI Sequence Viewer
	AAQ63049	(Get FASTA)	NCBI Sequence Viewer
	AAQ64023	(Get FASTA)	NCBI Sequence Viewer
	AAZ23039	(Get FASTA)	NCBI Sequence Viewer
	AAZ23040	(Get FASTA)	NCBI Sequence Viewer
	BAB14533	(Get FASTA)	NCBI Sequence Viewer
	BAD92719	(Get FASTA)	NCBI Sequence Viewer
	BAG62775	(Get FASTA)	NCBI Sequence Viewer
	BAG65149	(Get FASTA)	NCBI Sequence Viewer
	BAV60993	(Get FASTA)	NCBI Sequence Viewer
	EAW61919	(Get FASTA)	NCBI Sequence Viewer
	EAW61920	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000373706
	ENSP00000373706.4
	ENSP00000428268
	ENSP00000428268.2
	ENSP00000494675
GenBank Protein	O60610	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001073280 ⟸ NM_001079812
- Peptide Label:	isoform 2
- UniProtKB:	A0RZB8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMS QKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSA LCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEV FQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKD ALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDA TIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEV QLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLK MLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPD VLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEK MRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS hide sequence

RefSeq Acc Id:	NP_005210 ⟸ NM_005219
- Peptide Label:	isoform 1
- UniProtKB:	Q59FH8 (UniProtKB/Swiss-Prot), Q17RN4 (UniProtKB/Swiss-Prot), E9PEZ2 (UniProtKB/Swiss-Prot), B7ZKW2 (UniProtKB/Swiss-Prot), A6NF18 (UniProtKB/Swiss-Prot), Q9UC76 (UniProtKB/Swiss-Prot), O60610 (UniProtKB/Swiss-Prot), Q6URC4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQY LYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMM IDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIR MEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQK LQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAIS PPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLT PKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIK QMPEPEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLA ELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKEN QKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS hide sequence

RefSeq Acc Id:	NP_001300936 ⟸ NM_001314007
- Peptide Label:	isoform 3
- UniProtKB:	A0A2R8Y5N1 (UniProtKB/TrEMBL), A0A1E1ERW3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQY LYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMM IDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIR MEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQK LQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAIS PPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLT PKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIK QMPEPEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLA ELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKEN QKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSGAAFRRKRGPRQDNLLCPWEVEEEEETFKLPTGRPGVQSHLC hide sequence

Ensembl Acc Id:

ENSP00000381565 ⟸ ENST00000398557

Ensembl Acc Id:

ENSP00000253811 ⟸ ENST00000253811

Protein Domains

DAD FH1 FH2 GBD/FH3

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O60610-F1-model_v2	AlphaFold	O60610	1-1272	view protein structure

RGD ID:

6802999

Promoter ID:

HG_KWN:51360

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000313775, OTTHUMT00000313779

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	140,884,041 - 140,885,042 (-)	MPROMDB

RGD ID:

6803260

Promoter ID:

HG_KWN:51361

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

NB4

Transcripts:

UC010JFZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	140,885,591 - 140,886,092 (-)	MPROMDB

RGD ID:

6803001

Promoter ID:

HG_KWN:51364

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000313778

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	140,920,591 - 140,921,091 (-)	MPROMDB

RGD ID:

6803000

Promoter ID:

HG_KWN:51368

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:

ENST00000253811, ENST00000389054, ENST00000398557, ENST00000398562, ENST00000398566, NM_001079812, NM_005219, UC003LLB.2, UC003LLC.2, UC010JGB.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	140,978,671 - 140,979,792 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	DIAPH1	COSMIC
Ensembl Genes	ENSG00000131504	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000389054	ENTREZGENE
	ENST00000389054.8	UniProtKB/Swiss-Prot
	ENST00000518047	ENTREZGENE
	ENST00000518047.5	UniProtKB/Swiss-Prot
	ENST00000647433	ENTREZGENE
Gene3D-CATH	1.10.20.40	UniProtKB/Swiss-Prot
	1.20.58.2220	UniProtKB/Swiss-Prot
	1.20.58.630	UniProtKB/Swiss-Prot
	1.25.10.10	UniProtKB/Swiss-Prot
	6.10.30.30	UniProtKB/Swiss-Prot
	Formin, FH3 diaphanous domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000131504	GTEx
HGNC ID	HGNC:2876	ENTREZGENE
Human Proteome Map	DIAPH1	Human Proteome Map
InterPro	ARM-like	UniProtKB/Swiss-Prot
	ARM-type_fold	UniProtKB/Swiss-Prot
	DAD_dom	UniProtKB/Swiss-Prot
	DIA_GBD_sf	UniProtKB/Swiss-Prot
	FH2_Formin	UniProtKB/Swiss-Prot
	FH2_Formin_sf	UniProtKB/Swiss-Prot
	FH3_dom	UniProtKB/Swiss-Prot
	Formin_Homology_Diaphanous_sf	UniProtKB/Swiss-Prot
	GBD/FH3_dom	UniProtKB/Swiss-Prot
	GTPase-bd	UniProtKB/Swiss-Prot
KEGG Report	hsa:1729	UniProtKB/Swiss-Prot
NCBI Gene	1729	ENTREZGENE
OMIM	602121	OMIM
PANTHER	PROTEIN DIAPHANOUS	UniProtKB/Swiss-Prot
	PTHR45691:SF4	UniProtKB/Swiss-Prot
Pfam	Drf_FH1	UniProtKB/Swiss-Prot
	Drf_FH3	UniProtKB/Swiss-Prot
	Drf_GBD	UniProtKB/Swiss-Prot
	FH2	UniProtKB/Swiss-Prot
PharmGKB	PA27333	PharmGKB
PROSITE	DAD	UniProtKB/Swiss-Prot
	FH2	UniProtKB/Swiss-Prot
	GBD_FH3	UniProtKB/Swiss-Prot
SMART	Drf_FH3	UniProtKB/Swiss-Prot
	Drf_GBD	UniProtKB/Swiss-Prot
	FH2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Formin homology 2 domain (FH2 domain)	UniProtKB/Swiss-Prot
	SSF48371	UniProtKB/Swiss-Prot
UniProt	A0A1E1ERW3	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8Y5N1	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8YEF8_HUMAN	UniProtKB/TrEMBL
	A0RZB7_HUMAN	UniProtKB/TrEMBL
	A0RZB8	ENTREZGENE, UniProtKB/TrEMBL
	A6NF18	ENTREZGENE
	B4E2I7_HUMAN	UniProtKB/TrEMBL
	B7ZKW2	ENTREZGENE
	DIAP1_HUMAN	UniProtKB/Swiss-Prot
	E9PEZ2	ENTREZGENE
	H7C2W8_HUMAN	UniProtKB/TrEMBL
	O60610	ENTREZGENE
	Q17RN4	ENTREZGENE
	Q59FH8	ENTREZGENE
	Q6URC4	ENTREZGENE, UniProtKB/TrEMBL
	Q96IL1_HUMAN	UniProtKB/TrEMBL
	Q9UC76	ENTREZGENE
UniProt Secondary	A6NF18	UniProtKB/Swiss-Prot
	B7ZKW2	UniProtKB/Swiss-Prot
	E9PEZ2	UniProtKB/Swiss-Prot
	Q17RN4	UniProtKB/Swiss-Prot
	Q59FH8	UniProtKB/Swiss-Prot
	Q9UC76	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	DIAPH1	diaphanous related formin 1	DIAPH1	diaphanous-related formin 1	Symbol and/or name change	5135510	APPROVED
2013-06-04	DIAPH1	diaphanous-related formin 1	DIAPH1	diaphanous homolog 1 (Drosophila)	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 - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar