RGD:13830856 Rat Genome Database

Variant: RGD:13830856 - Homo sapiens

RGD ID:

13830856

RS ID:

rs1565922388

ClinVar ID:

CV581220

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SYT1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	79,747,379
GRCh38	12	79,353,599

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005639.2:c.908T>A NC_000012.12:g.79353599T>A NC_000012.11:g.79747379T>A NP_005630.1:p.Met303Lys More...	02/18/2019	missense variant	pathogenic\|likely pathogenic	BAKER-GORDON SYNDROME; NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM

Disease Annotations Click to see Annotation Detail View

Baker-Gordon Syndrome (IAGP)

Neurodevelopmental Disorders (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SYT1
Accession:	NM_001291901
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGE FKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQNGKR LKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIA QWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	XM_047429481
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001415943
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGE FKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQNGKR LKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIA QWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001415941
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGE FKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQNGKR LKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIA QWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001415942
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGE FKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQNGKR LKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIA QWHTLQVEEEVDAMLAVKK*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGE FKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQNGKR LKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIA QWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001135806
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	XM_047429482
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	XM_047429479
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	XM_047429484
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGE FKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQNGKR LKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIA QWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001135805
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGI IQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGE FKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQNGKR LKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIA QWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	XM_047429480
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001415940
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001415938
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	XM_047429483
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_005639
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Gene Symbol:	SYT1
Accession:	NM_001415939
Location:	EXON
Amino Acid Prediction:	M to K (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCIC KKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKKDVGGLSDPYVKIHLMQN GKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRR PIAQWHTLQVEEEVDAMLAVKK*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25712080	PMID:25741868	PMID:30107533

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000721122	CLINVAR
	RCV000735271	CLINVAR
dbSNP (RS)	rs1565922388	CLINVAR
MedGen	C4748715	CLINVAR
NCBI Gene	SYT1	CLINVAR
OMIM	185605	CLINVAR
	618218	CLINVAR
OMIM Allele	185605.0004	CLINVAR

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13830856 - Homo sapiens

Imported Disease Annotations - ClinVar