Related gene-specific medical variations for Gene (Select 56899) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685447	GRCh37/hg19 12q23.1(chr12:99829068-99981207)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 2643228	NM_153364.4(GARIN6):c.220G>A (p.Val74Ile)	ANKS1B, GARIN6 (V74I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2615454	NM_153364.4(GARIN6):c.229A>T (p.Ser77Cys)	ANKS1B, GARIN6 (S77C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605673	NM_153364.4(GARIN6):c.488T>C (p.Phe163Ser)	ANKS1B, GARIN6 (F163S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510198	NM_153364.4(GARIN6):c.674T>A (p.Met225Lys)	ANKS1B, GARIN6 (M225K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495078	NM_153364.4(GARIN6):c.661A>C (p.Ser221Arg)	ANKS1B, GARIN6 (S221R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2463386	NM_153364.4(GARIN6):c.183C>A (p.Asp61Glu)	ANKS1B, GARIN6 (D61E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808306	GRCh37/hg19 12q23.1(chr12:99780898-99873121)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 1710516	GRCh37/hg19 12q23.1(chr12:100146001-100272737)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 1012626	GRCh37/hg19 12q23.1(chr12:100166700-100175875)x3	ANKS1B	Copy number gain	not provided	GLikely pathogenic
Select item 980451	GRCh37/hg19 12q23.1(chr12:99732086-99986120)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 688497	GRCh37/hg19 12q23.1(chr12:100099743-100233132)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 563910	GRCh37/hg19 12q23.1(chr12:99848061-100007359)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 563891	GRCh37/hg19 12q23.1(chr12:100198773-100255920)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 157260	NM_001352186.2(ANKS1B):c.1272+40072_1272+46159del	ANKS1B	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 145291	GRCh38/hg38 12q23.1(chr12:99564637-99611495)x1	ANKS1B	Copy number loss	See cases	GBenign