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

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280749	NM_153364.4(GARIN6):c.552G>T (p.Arg184Ser)	ANKS1B, GARIN6 (R184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280746	NM_153364.4(GARIN6):c.134T>C (p.Met45Thr)	ANKS1B, GARIN6 (M45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244442	NC_000012.11:g.(?_100091767)_(100270969_?)del	ANKS1B	Deletion	not provided	GPathogenic
Select item 3098535	NM_153364.4(GARIN6):c.646G>A (p.Glu216Lys)	ANKS1B, GARIN6 (E216K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098534	NM_153364.4(GARIN6):c.613G>A (p.Val205Met)	ANKS1B, GARIN6 (V205M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098533	NM_153364.4(GARIN6):c.575T>C (p.Leu192Ser)	ANKS1B, GARIN6 (L192S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098532	NM_153364.4(GARIN6):c.44G>A (p.Ser15Asn)	ANKS1B, GARIN6 (S15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098531	NM_153364.4(GARIN6):c.437G>A (p.Arg146His)	ANKS1B, GARIN6 (R146H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098530	NM_153364.4(GARIN6):c.380A>G (p.Lys127Arg)	ANKS1B, GARIN6 (K127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098529	NM_153364.4(GARIN6):c.32C>T (p.Thr11Met)	ANKS1B, GARIN6 (T11M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098528	NM_153364.4(GARIN6):c.280G>A (p.Val94Ile)	ANKS1B, GARIN6 (V94I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098527	NM_153364.4(GARIN6):c.269G>A (p.Arg90Gln)	ANKS1B, GARIN6 (R90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098526	NM_153364.4(GARIN6):c.179T>C (p.Ile60Thr)	ANKS1B, GARIN6 (I60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098525	NM_153364.4(GARIN6):c.103G>A (p.Gly35Ser)	ANKS1B, GARIN6 (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685447	GRCh37/hg19 12q23.1(chr12:99829068-99981207)x1	ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 2643228	NM_001352186.2(ANKS1B):c.1272+6673C>T	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)	not specified	GUncertain significance
Select item 2605673	NM_153364.4(GARIN6):c.488T>C (p.Phe163Ser)	ANKS1B, GARIN6 (F163S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510198	NM_153364.4(GARIN6):c.674T>A (p.Met225Lys)	ANKS1B, GARIN6 (M225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495078	NM_153364.4(GARIN6):c.661A>C (p.Ser221Arg)	ANKS1B, GARIN6 (S221R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2463386	NM_153364.4(GARIN6):c.183C>A (p.Asp61Glu)	ANKS1B, GARIN6 (D61E)	Single nucleotide variant (missense variant +1 more)	not specified	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

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Links from Gene

Items: 30