29329[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 2347628	NM_020959.3(ANO8):c.3685A>G (p.Ser1229Gly)	ANO8, LOC130063928 (S1229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225214	NM_020959.3(ANO8):c.3676T>C (p.Cys1226Arg)	ANO8, LOC130063928 (C1226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299162	NM_020959.3(ANO8):c.3638C>T (p.Ala1213Val)	ANO8 (A1213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277551	NM_020959.3(ANO8):c.3620A>G (p.Asp1207Gly)	ANO8 (D1207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127170	NM_020959.3(ANO8):c.3558G>C (p.Gln1186His)	ANO8 (Q1186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299133	NM_020959.3(ANO8):c.3550G>A (p.Ala1184Thr)	ANO8 (A1184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228819	NM_020959.3(ANO8):c.3541C>G (p.Pro1181Ala)	ANO8 (P1181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127169	NM_020959.3(ANO8):c.3509C>A (p.Ala1170Asp)	ANO8 (A1170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127168	NM_020959.3(ANO8):c.3508G>A (p.Ala1170Thr)	ANO8 (A1170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560920	NM_020959.3(ANO8):c.3499G>A (p.Ala1167Thr)	ANO8 (A1167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299097	NM_020959.3(ANO8):c.3482G>T (p.Gly1161Val)	ANO8 (G1161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548588	NM_020959.3(ANO8):c.3472G>A (p.Gly1158Arg)	ANO8 (G1158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334006	NM_020959.3(ANO8):c.3461C>T (p.Pro1154Leu)	ANO8 (P1154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399728	NM_020959.3(ANO8):c.3431C>T (p.Pro1144Leu)	ANO8 (P1144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282402	NM_020959.3(ANO8):c.3421C>A (p.Pro1141Thr)	ANO8 (P1141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385094	NM_020959.3(ANO8):c.3398C>T (p.Pro1133Leu)	ANO8 (P1133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464106	NM_020959.3(ANO8):c.3356C>T (p.Ala1119Val)	ANO8 (A1119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464105	NM_020959.3(ANO8):c.3355G>A (p.Ala1119Thr)	ANO8 (A1119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247655	NM_020959.3(ANO8):c.3346C>T (p.Pro1116Ser)	ANO8 (P1116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127167	NM_020959.3(ANO8):c.3332G>A (p.Gly1111Glu)	ANO8 (G1111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594128	NM_020959.3(ANO8):c.3319G>A (p.Glu1107Lys)	ANO8 (E1107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127166	NM_020959.3(ANO8):c.3310C>T (p.Arg1104Trp)	ANO8 (R1104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508578	NM_020959.3(ANO8):c.3295G>A (p.Glu1099Lys)	ANO8 (E1099K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551825	NM_020959.3(ANO8):c.3272C>T (p.Pro1091Leu)	ANO8 (P1091L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127165	NM_020959.3(ANO8):c.3256G>C (p.Val1086Leu)	ANO8 (V1086L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240019	NM_020959.3(ANO8):c.3253C>T (p.Arg1085Trp)	ANO8 (R1085W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649537	NM_020959.3(ANO8):c.3210C>T (p.Gly1070=)	ANO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127163	NM_020959.3(ANO8):c.3122G>A (p.Arg1041His)	ANO8 (R1041H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466687	NM_020959.3(ANO8):c.2845A>G (p.Lys949Glu)	ANO8 (K949E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299152	NM_020959.3(ANO8):c.2830G>A (p.Glu944Lys)	ANO8 (E944K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211307	NM_020959.3(ANO8):c.2780G>A (p.Arg927Gln)	ANO8 (R927Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127162	NM_020959.3(ANO8):c.2759G>A (p.Arg920Gln)	ANO8 (R920Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363068	NM_020959.3(ANO8):c.2758C>T (p.Arg920Trp)	ANO8 (R920W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250673	NM_020959.3(ANO8):c.2735G>A (p.Arg912His)	ANO8 (R912H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513021	NM_020959.3(ANO8):c.2705G>C (p.Arg902Pro)	ANO8 (R902P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127161	NM_020959.3(ANO8):c.2687G>A (p.Arg896His)	ANO8 (R896H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391781	NM_020959.3(ANO8):c.2633T>A (p.Leu878Gln)	ANO8 (L878Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537583	NM_020959.3(ANO8):c.2596G>A (p.Asp866Asn)	ANO8 (D866N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522361	NM_020959.3(ANO8):c.2530G>C (p.Val844Leu)	ANO8 (V844L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541184	NM_020959.3(ANO8):c.2405T>A (p.Ile802Asn)	ANO8 (I802N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272512	NM_020959.3(ANO8):c.2324A>G (p.Asn775Ser)	ANO8 (N775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211786	NM_020959.3(ANO8):c.2239G>A (p.Asp747Asn)	ANO8 (D747N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389117	NM_020959.3(ANO8):c.2164G>A (p.Glu722Lys)	ANO8 (E722K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601135	NM_020959.3(ANO8):c.2041C>T (p.Arg681Trp)	ANO8 (R681W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297146	NM_020959.3(ANO8):c.1991A>G (p.Glu664Gly)	ANO8 (E664G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299119	NM_020959.3(ANO8):c.1985A>C (p.Glu662Ala)	ANO8 (E662A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299111	NM_020959.3(ANO8):c.1982A>C (p.Asp661Ala)	ANO8 (D661A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524608	NM_020959.3(ANO8):c.1963A>G (p.Thr655Ala)	ANO8 (T655A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269540	NM_020959.3(ANO8):c.1942G>C (p.Gly648Arg)	ANO8 (G648R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481270	NM_020959.3(ANO8):c.1912G>A (p.Glu638Lys)	ANO8 (E638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488125	NM_020959.3(ANO8):c.1896C>G (p.Ser632Arg)	ANO8 (S632R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517333	NM_020959.3(ANO8):c.1831G>C (p.Gly611Arg)	ANO8 (G611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127160	NM_020959.3(ANO8):c.1829G>T (p.Cys610Phe)	ANO8 (C610F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127159	NM_020959.3(ANO8):c.1828T>A (p.Cys610Ser)	ANO8 (C610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401089	NM_020959.3(ANO8):c.1797G>C (p.Glu599Asp)	ANO8 (E599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206100	NM_020959.3(ANO8):c.1786G>C (p.Glu596Gln)	ANO8 (E596Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328326	NM_020959.3(ANO8):c.1766A>G (p.Glu589Gly)	ANO8 (E589G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254342	NM_020959.3(ANO8):c.1711G>A (p.Gly571Arg)	ANO8 (G571R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127157	NM_020959.3(ANO8):c.1694G>A (p.Arg565Gln)	ANO8 (R565Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342638	NM_020959.3(ANO8):c.1603G>C (p.Gly535Arg)	ANO8 (G535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127155	NM_020959.3(ANO8):c.1579G>A (p.Glu527Lys)	ANO8 (E527K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618378	NM_020959.3(ANO8):c.1573C>T (p.Arg525Cys)	ANO8 (R525C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127154	NM_020959.3(ANO8):c.1535T>G (p.Leu512Arg)	ANO8 (L512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127153	NM_020959.3(ANO8):c.1535T>A (p.Leu512Gln)	ANO8 (L512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466397	NM_020959.3(ANO8):c.1497G>C (p.Glu499Asp)	ANO8 (E499D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622705	NM_020959.3(ANO8):c.1447G>A (p.Val483Met)	ANO8 (V483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127151	NM_020959.3(ANO8):c.1442A>G (p.Gln481Arg)	ANO8 (Q481R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127149	NM_020959.3(ANO8):c.1148A>T (p.Glu383Val)	ANO8 (E383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061645	NM_020959.3(ANO8):c.1059G>T (p.Leu353=)	ANO8	Single nucleotide variant (synonymous variant)	ANO8-related disorder	GLikely benign
Select item 2327195	NM_020959.3(ANO8):c.1042C>T (p.Pro348Ser)	ANO8 (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299144	NM_020959.3(ANO8):c.1016T>C (p.Ile339Thr)	ANO8 (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336305	NM_020959.3(ANO8):c.970G>A (p.Glu324Lys)	ANO8 (E324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299109	NM_020959.3(ANO8):c.940G>A (p.Gly314Arg)	ANO8 (G314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127176	NM_020959.3(ANO8):c.937T>C (p.Trp313Arg)	ANO8 (W313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602945	NM_020959.3(ANO8):c.838C>T (p.Arg280Trp)	ANO8 (R280W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299093	NM_020959.3(ANO8):c.802G>A (p.Val268Ile)	ANO8 (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299106	NM_020959.3(ANO8):c.800C>T (p.Ser267Phe)	ANO8 (S267F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127175	NM_020959.3(ANO8):c.773C>T (p.Ala258Val)	ANO8 (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466398	NM_020959.3(ANO8):c.736G>T (p.Ala246Ser)	ANO8 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254487	NM_020959.3(ANO8):c.679G>A (p.Ala227Thr)	ANO8 (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338678	NM_020959.3(ANO8):c.646A>G (p.Ile216Val)	ANO8 (I216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127173	NM_020959.3(ANO8):c.644G>A (p.Arg215His)	ANO8 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212997	NM_020959.3(ANO8):c.626T>C (p.Phe209Ser)	ANO8 (F209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299122	NM_020959.3(ANO8):c.593A>G (p.Glu198Gly)	ANO8 (E198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127172	NM_020959.3(ANO8):c.521A>G (p.Gln174Arg)	ANO8 (Q174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299103	NM_020959.3(ANO8):c.383G>T (p.Arg128Leu)	ANO8 (R128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347629	NM_020959.3(ANO8):c.382C>T (p.Arg128Cys)	ANO8 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491017	NM_020959.3(ANO8):c.247C>A (p.Leu83Met)	ANO8 (L83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127156	NM_020959.3(ANO8):c.159C>A (p.His53Gln)	ANO8 (H53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352919	NM_020959.3(ANO8):c.145T>C (p.Tyr49His)	ANO8 (Y49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517559	NM_020959.3(ANO8):c.143G>A (p.Arg48His)	ANO8 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237006	NM_020959.3(ANO8):c.143G>C (p.Arg48Pro)	ANO8 (R48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206235	NM_020959.3(ANO8):c.89C>T (p.Pro30Leu)	ANO8, LOC130063929 (P30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621341	NM_020959.3(ANO8):c.86C>T (p.Ala29Val)	ANO8, LOC130063929 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2