23294[Gene ID] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2336375	NM_015245.3(ANKS1A):c.4G>A (p.Gly2Arg)	ANKS1A (G2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126962	NM_015245.3(ANKS1A):c.179C>T (p.Pro60Leu)	ANKS1A (P60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603876	NM_015245.3(ANKS1A):c.198C>T (p.Ser66=)	ANKS1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067220	NM_015245.3(ANKS1A):c.249C>G (p.Pro83=)	ANKS1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721533	NM_015245.3(ANKS1A):c.321C>T (p.Asn107=)	ANKS1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593541	NM_015245.3(ANKS1A):c.343T>C (p.Tyr115His)	ANKS1A (Y115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298207	NM_015245.3(ANKS1A):c.347C>G (p.Pro116Arg)	ANKS1A (P116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298176	NM_015245.3(ANKS1A):c.437A>G (p.Asn146Ser)	ANKS1A (N146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537954	NM_015245.3(ANKS1A):c.545T>G (p.Phe182Cys)	ANKS1A (F182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126976	NM_015245.3(ANKS1A):c.600G>A (p.Met200Ile)	ANKS1A (M200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228534	NM_015245.3(ANKS1A):c.700C>A (p.Leu234Ile)	ANKS1A (L234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126977	NM_015245.3(ANKS1A):c.739A>G (p.Met247Val)	ANKS1A (M247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212912	NM_015245.3(ANKS1A):c.952A>C (p.Thr318Pro)	ANKS1A (T318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474518	NM_015245.3(ANKS1A):c.1001A>G (p.Gln334Arg)	ANKS1A (Q334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298187	NM_015245.3(ANKS1A):c.1073A>C (p.Glu358Ala)	ANKS1A (E358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480657	NM_015245.3(ANKS1A):c.1135G>A (p.Gly379Arg)	ANKS1A (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399101	NM_015245.3(ANKS1A):c.1219C>T (p.Pro407Ser)	ANKS1A (P407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298165	NM_015245.3(ANKS1A):c.1328A>G (p.His443Arg)	ANKS1A (H443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610532	NM_015245.3(ANKS1A):c.1379C>G (p.Thr460Arg)	ANKS1A (T460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298156	NM_015245.3(ANKS1A):c.1387A>G (p.Thr463Ala)	ANKS1A (T463A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768082	NM_015245.3(ANKS1A):c.1417A>G (p.Thr473Ala)	ANKS1A (T473A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721534	NM_015245.3(ANKS1A):c.1424-8A>G	ANKS1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2245856	NM_015245.3(ANKS1A):c.1432C>T (p.Arg478Trp)	ANKS1A (R478W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215988	NM_015245.3(ANKS1A):c.1433G>A (p.Arg478Gln)	ANKS1A (R478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396039	NM_015245.3(ANKS1A):c.1463C>T (p.Ala488Val)	ANKS1A (A488V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126956	NM_015245.3(ANKS1A):c.1514G>A (p.Gly505Asp)	ANKS1A (G505D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559419	NM_015245.3(ANKS1A):c.1531G>A (p.Glu511Lys)	ANKS1A (E511K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227407	NM_015245.3(ANKS1A):c.1567G>A (p.Ala523Thr)	ANKS1A (A523T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223395	NM_015245.3(ANKS1A):c.1567G>C (p.Ala523Pro)	ANKS1A (A523P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370463	NM_015245.3(ANKS1A):c.1579C>T (p.His527Tyr)	ANKS1A (H527Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126957	NM_015245.3(ANKS1A):c.1588G>A (p.Gly530Arg)	ANKS1A (G530R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126958	NM_015245.3(ANKS1A):c.1613A>C (p.His538Pro)	ANKS1A (H538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126959	NM_015245.3(ANKS1A):c.1661C>A (p.Ala554Asp)	ANKS1A (A554D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344086	NM_015245.3(ANKS1A):c.1695A>C (p.Arg565Ser)	ANKS1A (R565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781867	NM_015245.3(ANKS1A):c.1732C>G (p.Arg578Gly)	ANKS1A (R578G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3126960	NM_015245.3(ANKS1A):c.1769C>T (p.Pro590Leu)	ANKS1A (P590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126961	NM_015245.3(ANKS1A):c.1795G>A (p.Asp599Asn)	ANKS1A (D599N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488392	NM_015245.3(ANKS1A):c.1798C>T (p.Arg600Trp)	ANKS1A (R600W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360285	NM_015245.3(ANKS1A):c.1814G>A (p.Ser605Asn)	ANKS1A (S605N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126963	NM_015245.3(ANKS1A):c.1828A>G (p.Thr610Ala)	ANKS1A (T610A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790033	NM_015245.3(ANKS1A):c.1890C>T (p.Leu630=)	ANKS1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2284171	NM_015245.3(ANKS1A):c.1948A>T (p.Asn650Tyr)	ANKS1A (N650Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211650	NM_015245.3(ANKS1A):c.1982C>T (p.Ser661Leu)	ANKS1A (S661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558822	NM_015245.3(ANKS1A):c.2005G>A (p.Asp669Asn)	ANKS1A (D669N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211862	NM_015245.3(ANKS1A):c.2062C>T (p.Arg688Trp)	ANKS1A (R688W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395061	NM_015245.3(ANKS1A):c.2063G>A (p.Arg688Gln)	ANKS1A (R688Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126964	NM_015245.3(ANKS1A):c.2083C>T (p.Arg695Trp)	ANKS1A (R695W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537582	NM_015245.3(ANKS1A):c.2097G>C (p.Gln699His)	ANKS1A (Q699H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126965	NM_015245.3(ANKS1A):c.2116G>A (p.Glu706Lys)	ANKS1A (E706K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336867	NM_015245.3(ANKS1A):c.2123T>C (p.Ile708Thr)	ANKS1A (I708T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337078	NM_015245.3(ANKS1A):c.2170G>A (p.Asp724Asn)	ANKS1A (D724N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258603	NM_015245.3(ANKS1A):c.2189C>G (p.Ser730Cys)	ANKS1A (S730C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537536	NM_015245.3(ANKS1A):c.2215C>T (p.Arg739Trp)	ANKS1A (R739W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250081	NM_015245.3(ANKS1A):c.2216G>A (p.Arg739Gln)	ANKS1A (R739Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227752	NM_015245.3(ANKS1A):c.2266G>T (p.Ala756Ser)	ANKS1A (A756S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126967	NM_015245.3(ANKS1A):c.2270G>A (p.Arg757His)	ANKS1A (R757H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716134	NM_015245.3(ANKS1A):c.2437-10C>T	ANKS1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3126968	NM_015245.3(ANKS1A):c.2438T>G (p.Val813Gly)	ANKS1A (V813G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244945	NM_015245.3(ANKS1A):c.2495G>A (p.Arg832Lys)	ANKS1A (R832K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126969	NM_015245.3(ANKS1A):c.2509C>G (p.Pro837Ala)	ANKS1A (P837A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126970	NM_015245.3(ANKS1A):c.2567C>T (p.Thr856Met)	ANKS1A (T856M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298147	NM_015245.3(ANKS1A):c.2696G>A (p.Arg899His)	ANKS1A (R899H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468218	NM_015245.3(ANKS1A):c.2741G>A (p.Arg914Gln)	ANKS1A (R914Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543815	NM_015245.3(ANKS1A):c.2758G>A (p.Ala920Thr)	ANKS1A (A920T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298197	NM_015245.3(ANKS1A):c.2773G>C (p.Val925Leu)	ANKS1A (V925L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351293	NM_015245.3(ANKS1A):c.2773G>T (p.Val925Leu)	ANKS1A (V925L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298151	NM_015245.3(ANKS1A):c.2812G>A (p.Glu938Lys)	ANKS1A (E938K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716868	NM_015245.3(ANKS1A):c.2835T>C (p.Asn945=)	ANKS1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3126972	NM_015245.3(ANKS1A):c.2867G>A (p.Arg956Gln)	ANKS1A (R956Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295995	NM_015245.3(ANKS1A):c.2890G>A (p.Ala964Thr)	ANKS1A (A964T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126973	NM_015245.3(ANKS1A):c.2946C>G (p.Ile982Met)	ANKS1A (I982M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282322	NM_015245.3(ANKS1A):c.2980G>A (p.Asp994Asn)	ANKS1A (D994N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383138	NM_015245.3(ANKS1A):c.3020G>A (p.Arg1007Gln)	ANKS1A (R1007Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318923	NM_015245.3(ANKS1A):c.3090G>T (p.Gln1030His)	ANKS1A (Q1030H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353125	NM_015245.3(ANKS1A):c.3124G>A (p.Val1042Met)	ANKS1A (V1042M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234451	NM_015245.3(ANKS1A):c.3201G>C (p.Gln1067His)	ANKS1A (Q1067H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025643	NM_015245.3(ANKS1A):c.3225C>T (p.Gly1075=)	ANKS1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2357647	NM_015245.3(ANKS1A):c.3226G>A (p.Ala1076Thr)	ANKS1A (A1076T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398917	NM_015245.3(ANKS1A):c.3266C>G (p.Pro1089Arg)	ANKS1A (P1089R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656506	NM_015245.3(ANKS1A):c.3267G>A (p.Pro1089=)	ANKS1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720733	NM_015245.3(ANKS1A):c.3285C>T (p.Val1095=)	ANKS1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276306	NM_015245.3(ANKS1A):c.3301G>A (p.Ala1101Thr)	ANKS1A (A1101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126975	NM_015245.3(ANKS1A):c.3320T>C (p.Met1107Thr)	ANKS1A (M1107T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 686425	GRCh37/hg19 6p21.31(chr6:34630244-35087148)x3	ANKS1A, BLTP3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 686217	GRCh37/hg19 6p21.31(chr6:34807044-34890868)x1	ANKS1A, BLTP3A +1 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563172	GRCh37/hg19 6p21.31(chr6:34838141-35005084)x1	TAF11, ANKS1A +1 more	Copy number loss	not provided	GLikely benign
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394944	GRCh37/hg19 6p21.31(chr6:34730464-34869018)x3	ANKS1A, BLTP3A +2 more	Copy number gain	See cases	GUncertain significance
Select item 394143	GRCh37/hg19 6p21.31(chr6:34840147-35022430)x3	ANKS1A, BLTP3A +1 more	Copy number gain	See cases	GUncertain significance
Select item 253678	GRCh37/hg19 6p21.31(chr6:34482666-34949939)x3	SNRPC, ANKS1A +5 more	Copy number gain	See cases	GUncertain significance

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Items: 97