Related gene-specific medical variations for Gene (Select 1600) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2638845	NM_145243.5(OMA1):c.1349A>T (p.Asp450Val)	DAB1, OMA1 (D450V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2440675	NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr)	DAB1 (A15T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37	GUncertain significance
Select item 1527026	GRCh37/hg19 1p32.2(chr1:58079242-58254266)	DAB1	Copy number loss	not specified	GUncertain significance
Select item 1527015	GRCh37/hg19 1p32.2(chr1:57710492-57762795)	DAB1	Copy number loss	not specified	GUncertain significance
Select item 1319666	NM_001365792.1(DAB1):c.1310C>T (p.Thr437Ile)	DAB1 (T435I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298313	NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp)	DAB1 (G70D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37	GUncertain significance
Select item 1287065	NM_145243.5(OMA1):c.632T>G (p.Phe211Cys)	DAB1, OMA1 (F211C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785790	NM_145243.5(OMA1):c.924C>T (p.Phe308=)	DAB1, OMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780242	NM_145243.5(OMA1):c.201C>A (p.Asn67Lys)	DAB1, OMA1 (N67K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780241	NM_145243.5(OMA1):c.595T>C (p.Leu199=)	DAB1, OMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780003	NM_145243.5(OMA1):c.1366-9T>G	DAB1, OMA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773636	NM_145243.5(OMA1):c.880A>G (p.Ile294Val)	DAB1, OMA1 (I294V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767673	NM_145243.5(OMA1):c.205C>T (p.His69Tyr)	DAB1, OMA1 (H69Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729080	NM_145243.5(OMA1):c.755T>C (p.Met252Thr)	DAB1, OMA1 (M252T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722109	NM_145243.5(OMA1):c.1565C>T (p.Thr522Met)	DAB1, OMA1 (T522M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713749	NM_145243.5(OMA1):c.1093G>T (p.Asp365Tyr)	DAB1, OMA1 (D365Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 148218	GRCh38/hg38 1p32.2(chr1:57336111-57665103)x1	DAB1	Copy number loss	See cases	GUncertain significance