ANKS1B[gene] and "single gene"[properties] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1386926	NC_000012.12:g.98735616G>A	ANKS1B (H457Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738742	NM_001352186.2(ANKS1B):c.3823G>A (p.Gly1275Ser)	ANKS1B (G1250S +30 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3126990	NM_001352186.2(ANKS1B):c.3745G>A (p.Val1249Met)	ANKS1B (V155M +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126989	NM_001352186.2(ANKS1B):c.3704C>G (p.Ser1235Cys)	ANKS1B (S1210C +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316839	NM_001352186.2(ANKS1B):c.3445A>G (p.Ile1149Val)	ANKS1B (I1149V +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708480	NM_001352186.2(ANKS1B):c.3442-2A>G	ANKS1B	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 1067469	NM_001352186.2(ANKS1B):c.3441+2T>C	ANKS1B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2260885	NM_001352186.2(ANKS1B):c.3283A>G (p.Met1095Val)	ANKS1B (M100V +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3347865	NM_001352186.2(ANKS1B):c.3216C>A (p.Tyr1072Ter)	ANKS1B (Y1047* +19 more)	Single nucleotide variant (nonsense +1 more)	ANKS1B-related disorder	GUncertain significance
Select item 2525660	NM_001352186.2(ANKS1B):c.3196G>A (p.Ala1066Thr)	ANKS1B (A139T +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318272	NM_001352186.2(ANKS1B):c.3194C>T (p.Thr1065Ile)	ANKS1B (T1064I +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255319	NM_001352186.2(ANKS1B):c.2981T>G (p.Ile994Ser)	ANKS1B (I189S +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126988	NM_001352186.2(ANKS1B):c.2980A>G (p.Ile994Val)	ANKS1B (I220V +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2225136	NM_001352186.2(ANKS1B):c.2908C>T (p.Pro970Ser)	ANKS1B (P165S +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2613135	NM_001352186.2(ANKS1B):c.2845G>A (p.Asp949Asn)	ANKS1B (D949N +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126987	NM_001352186.2(ANKS1B):c.2774T>C (p.Ile925Thr)	ANKS1B (I120T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126986	NM_001352186.2(ANKS1B):c.2663C>T (p.Ser888Phe)	ANKS1B (S888F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228045	NM_001352186.2(ANKS1B):c.2598T>G (p.Ile866Met)	ANKS1B (I35M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746071	NM_001352186.2(ANKS1B):c.2580T>C (p.Ser860=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549976	NM_001352186.2(ANKS1B):c.2534A>G (p.Asn845Ser)	ANKS1B (N40S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717156	NM_001352186.2(ANKS1B):c.2469G>A (p.Gly823=)	ANKS1B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 737272	NM_001352186.2(ANKS1B):c.2420-59C>T	ANKS1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2232936	NM_001352186.2(ANKS1B):c.2373T>G (p.Asp791Glu)	ANKS1B (D792E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126985	NM_001352186.2(ANKS1B):c.2303G>C (p.Gly768Ala)	ANKS1B (G769A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773680	NM_001352186.2(ANKS1B):c.2293A>G (p.Ser765Gly)	ANKS1B (S765G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3298240	NM_001352186.2(ANKS1B):c.2288A>G (p.Glu763Gly)	ANKS1B (E763G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672517	NM_001352186.2(ANKS1B):c.2242A>G (p.Asn748Asp)	ANKS1B (N748D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2532417	NM_001352186.2(ANKS1B):c.2221G>A (p.Asp741Asn)	ANKS1B (D741N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298229	NM_001352186.2(ANKS1B):c.2186T>C (p.Met729Thr)	ANKS1B (M729T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126984	NM_001352186.2(ANKS1B):c.2182G>C (p.Asp728His)	ANKS1B (D728H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532824	NM_001352186.2(ANKS1B):c.2135G>C (p.Arg712Thr)	ANKS1B (R712T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344185	NM_001352186.2(ANKS1B):c.2131G>A (p.Glu711Lys)	ANKS1B (E711K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229421	NM_001352186.2(ANKS1B):c.2102A>G (p.Gln701Arg)	ANKS1B (Q701R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126983	NM_001352186.2(ANKS1B):c.2098G>A (p.Asp700Asn)	ANKS1B (D700N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126982	NM_001352186.2(ANKS1B):c.2050C>A (p.His684Asn)	ANKS1B (H684N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773264	NM_001352186.2(ANKS1B):c.2043C>T (p.Leu681=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621278	NM_001352186.2(ANKS1B):c.1958T>C (p.Ile653Thr)	ANKS1B (I653T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126981	NM_001352186.2(ANKS1B):c.1900A>G (p.Lys634Glu)	ANKS1B (K635E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518640	NM_001352186.2(ANKS1B):c.1891C>A (p.Gln631Lys)	ANKS1B (Q632K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267714	NM_001352186.2(ANKS1B):c.1817C>G (p.Ala606Gly)	ANKS1B (A606G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541719	NM_001352186.2(ANKS1B):c.1790C>G (p.Pro597Arg)	ANKS1B (P597R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520101	NM_001352186.2(ANKS1B):c.1769G>A (p.Arg590Gln)	ANKS1B (R590Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 712182	NM_001352186.2(ANKS1B):c.1757-10C>T	ANKS1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1999096	NM_001352186.2(ANKS1B):c.1700C>T (p.Pro567Leu)	ANKS1B (P568L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2464224	NM_001352186.2(ANKS1B):c.1687C>G (p.Pro563Ala)	ANKS1B (P563A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2887664	NM_001352186.2(ANKS1B):c.1502G>A (p.Gly501Asp)	ANKS1B (G502D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2532823	NM_001352186.2(ANKS1B):c.1452G>T (p.Glu484Asp)	ANKS1B (E484D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363680	NM_001352186.2(ANKS1B):c.1439A>G (p.Asp480Gly)	ANKS1B (D480G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2003710	NM_001352186.2(ANKS1B):c.1394A>C (p.Lys465Thr)	ANKS1B (K465T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758623	NM_001352186.2(ANKS1B):c.1389A>G (p.Thr463=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3126980	NM_001352186.2(ANKS1B):c.1374G>T (p.Met458Ile)	ANKS1B (M458I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347712	NM_001352186.2(ANKS1B):c.1301C>A (p.Thr434Asn)	ANKS1B (T435N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126979	NM_001352186.2(ANKS1B):c.1295A>G (p.Asn432Ser)	ANKS1B (N432S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1400437	NM_001352186.2(ANKS1B):c.1286A>T (p.Lys429Met)	ANKS1B (K429M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3126978	NM_001352186.2(ANKS1B):c.1274A>G (p.Glu425Gly)	ANKS1B (E425G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145291	GRCh38/hg38 12q23.1(chr12:99564637-99611495)x1	ANKS1B	Copy number loss	See cases	GBenign
Select item 157260	NM_001352186.2(ANKS1B):c.1272+40072_1272+46159del	ANKS1B	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 746088	NM_001352186.2(ANKS1B):c.1194G>A (p.Thr398=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769829	NM_001352186.2(ANKS1B):c.1166T>C (p.Val389Ala)	ANKS1B (V389A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 759288	NM_001352186.2(ANKS1B):c.1140T>C (p.Ser380=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208799	NM_001352186.2(ANKS1B):c.1031C>T (p.Ser344Leu)	ANKS1B (S345L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298218	NM_001352186.2(ANKS1B):c.970G>C (p.Val324Leu)	ANKS1B (V325L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126993	NM_001352186.2(ANKS1B):c.966A>C (p.Glu322Asp)	ANKS1B (E323D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126992	NM_001352186.2(ANKS1B):c.965A>C (p.Glu322Ala)	ANKS1B (E322A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258988	NM_001352186.2(ANKS1B):c.874A>G (p.Thr292Ala)	ANKS1B (T293A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 709113	NM_001352186.2(ANKS1B):c.862G>A (p.Val288Met)	ANKS1B (V288M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2622625	NM_001352186.2(ANKS1B):c.857A>G (p.Glu286Gly)	ANKS1B (E286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472223	NM_001352186.2(ANKS1B):c.548C>A (p.Ala183Glu)	ANKS1B (A183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714542	NM_001352186.2(ANKS1B):c.471A>G (p.Arg157=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2617864	NM_001352186.2(ANKS1B):c.313G>A (p.Val105Met)	ANKS1B (V105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721801	NM_001352186.2(ANKS1B):c.276G>T (p.Gly92=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742107	NM_001352186.2(ANKS1B):c.201C>A (p.Ala67=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788655	NM_001352186.2(ANKS1B):c.6G>A (p.Gly2=)	ANKS1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3244442	NC_000012.11:g.(?_100091767)_(100270969_?)del	ANKS1B	Deletion	not provided	GPathogenic
Select item 2685447	GRCh37/hg19 12q23.1(chr12:99829068-99981207)x1	ANKS1B	Copy number loss	not provided	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 1176615	GRCh37/hg19 12q23.1(chr12:100166700-100175875)x1	ANKS1B	Copy number loss	not provided	GLikely pathogenic
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

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Items: 83