13543[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 3131268	NM_025153.3(ATP10B):c.4357C>T (p.Arg1453Cys)	ATP10B (R1441C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520934	NM_025153.3(ATP10B):c.4346G>A (p.Arg1449Lys)	ATP10B (R1437K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238733	NM_025153.3(ATP10B):c.4321A>G (p.Thr1441Ala)	ATP10B (T1441A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207776	NM_025153.3(ATP10B):c.4318C>G (p.Gln1440Glu)	ATP10B (Q1428E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474567	NM_025153.3(ATP10B):c.4250C>T (p.Ser1417Phe)	ATP10B (S1389F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245255	NM_025153.3(ATP10B):c.4244G>T (p.Gly1415Val)	ATP10B (G1387V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327443	NM_025153.3(ATP10B):c.4229A>T (p.Asp1410Val)	ATP10B (D1410V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131267	NM_025153.3(ATP10B):c.4222A>T (p.Met1408Leu)	ATP10B (M1380L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327492	NM_025153.3(ATP10B):c.4209T>G (p.Cys1403Trp)	ATP10B (C1391W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324984	NM_025153.3(ATP10B):c.4003G>T (p.Asp1335Tyr)	ATP10B (D1307Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411385	NM_025153.3(ATP10B):c.3979C>G (p.Leu1327Val)	ATP10B (L1315V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535930	NM_025153.3(ATP10B):c.3975G>T (p.Lys1325Asn)	ATP10B (K1325N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283973	NM_025153.3(ATP10B):c.3971G>A (p.Gly1324Glu)	ATP10B (G1296E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378142	NM_025153.3(ATP10B):c.3960A>T (p.Gln1320His)	ATP10B (Q1320H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309301	NM_025153.3(ATP10B):c.3901G>A (p.Val1301Ile)	ATP10B (V1289I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131265	NM_025153.3(ATP10B):c.3875A>G (p.Gln1292Arg)	ATP10B (Q1292R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327501	NM_025153.3(ATP10B):c.3854C>T (p.Pro1285Leu)	ATP10B (P1257L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131264	NM_025153.3(ATP10B):c.3843C>A (p.Ser1281Arg)	ATP10B (S1281R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131263	NM_025153.3(ATP10B):c.3791T>C (p.Met1264Thr)	ATP10B (M1236T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271405	NM_025153.3(ATP10B):c.3778G>A (p.Gly1260Ser)	ATP10B (G1248S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515636	NM_025153.3(ATP10B):c.3745A>G (p.Thr1249Ala)	ATP10B (T1221A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024776	NM_025153.3(ATP10B):c.3665T>C (p.Ile1222Thr)	ATP10B (I1194T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2524343	NM_025153.3(ATP10B):c.3577T>C (p.Ser1193Pro)	ATP10B (S1181P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809830	NM_025153.3(ATP10B):c.3565-3C>T	ATP10B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 549597	NC_000005.10:g.160592205_161364688dup	ATP10B, GABRB2 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 2614449	NM_025153.3(ATP10B):c.3505A>T (p.Ile1169Phe)	ATP10B (I1169F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131262	NM_025153.3(ATP10B):c.3494T>C (p.Leu1165Pro)	ATP10B (L1153P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131261	NM_025153.3(ATP10B):c.3361G>A (p.Val1121Met)	ATP10B (V1121M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464652	NM_025153.3(ATP10B):c.3269G>A (p.Arg1090His)	ATP10B (R1078H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392923	NM_025153.3(ATP10B):c.3203T>C (p.Ile1068Thr)	ATP10B (I1040T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310086	NM_025153.3(ATP10B):c.3142G>T (p.Val1048Phe)	ATP10B, LOC126807574 (V1020F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131259	NM_025153.3(ATP10B):c.3130G>A (p.Asp1044Asn)	ATP10B, LOC126807574 (D1016N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656011	NM_025153.3(ATP10B):c.3086G>A (p.Arg1029His)	ATP10B, LOC126807574 (R1001H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2610533	NM_025153.3(ATP10B):c.3085C>T (p.Arg1029Cys)	ATP10B, LOC126807574 (R1017C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656012	NM_025153.3(ATP10B):c.3068G>A (p.Arg1023Gln)	ATP10B, LOC126807574 (R1011Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2367021	NM_025153.3(ATP10B):c.3016A>G (p.Ile1006Val)	ATP10B, LOC126807574 (I994V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495880	NM_025153.3(ATP10B):c.2950T>C (p.Ser984Pro)	ATP10B, LOC126807574 (S984P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286276	NM_025153.3(ATP10B):c.2904G>T (p.Lys968Asn)	ATP10B, LOC126807574 (K956N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319551	NM_025153.3(ATP10B):c.2891G>A (p.Arg964His)	ATP10B, LOC126807574 (R936H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298464	NM_025153.3(ATP10B):c.2875G>A (p.Glu959Lys)	ATP10B, LOC126807574 (E947K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131257	NM_025153.3(ATP10B):c.2779C>G (p.His927Asp)	ATP10B (H927D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597354	NM_025153.3(ATP10B):c.2714G>A (p.Arg905Gln)	ATP10B (R877Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344285	NM_025153.3(ATP10B):c.2714G>C (p.Arg905Pro)	ATP10B (R877P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656013	NM_025153.3(ATP10B):c.2713C>A (p.Arg905=)	ATP10B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484245	NM_025153.3(ATP10B):c.2713C>T (p.Arg905Trp)	ATP10B (R905W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131255	NM_025153.3(ATP10B):c.2702T>C (p.Ile901Thr)	ATP10B (I873T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490324	NM_025153.3(ATP10B):c.2620G>T (p.Ala874Ser)	ATP10B (A862S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656014	NM_025153.3(ATP10B):c.2595C>A (p.Asn865Lys)	ATP10B (N837K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549768	NM_025153.3(ATP10B):c.2525A>T (p.Lys842Met)	ATP10B (K814M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375193	NM_025153.3(ATP10B):c.2515A>T (p.Ile839Phe)	ATP10B (I839F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131254	NM_025153.3(ATP10B):c.2504G>T (p.Arg835Leu)	ATP10B (R807L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696727	NM_025153.3(ATP10B):c.2415C>A (p.Cys805Ter)	ATP10B (C793* +1 more)	Single nucleotide variant (nonsense)	ATP10B-associated developmental disorder	GUncertain significance
Select item 2482055	NM_025153.3(ATP10B):c.2386A>G (p.Ile796Val)	ATP10B (I768V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612445	NM_025153.3(ATP10B):c.2321C>T (p.Ser774Phe)	ATP10B (S762F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519302	NM_025153.3(ATP10B):c.2305G>T (p.Val769Phe)	ATP10B (V757F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131253	NM_025153.3(ATP10B):c.2276G>A (p.Ser759Asn)	ATP10B (S731N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131252	NM_025153.3(ATP10B):c.2258G>A (p.Gly753Asp)	ATP10B (G725D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525302	NM_025153.3(ATP10B):c.2215G>A (p.Val739Met)	ATP10B (V711M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397108	NM_025153.3(ATP10B):c.2194C>T (p.His732Tyr)	ATP10B (H732Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493389	NM_025153.3(ATP10B):c.2169T>G (p.Asp723Glu)	ATP10B (D695E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259172	NM_025153.3(ATP10B):c.2049C>A (p.Ser683Arg)	ATP10B (S655R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656015	NM_025153.3(ATP10B):c.2011G>A (p.Gly671Arg)	ATP10B (G643R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3327433	NM_025153.3(ATP10B):c.2008A>G (p.Ser670Gly)	ATP10B (S658G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454422	NM_025153.3(ATP10B):c.1970C>T (p.Thr657Ile)	ATP10B (T645I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555940	NM_025153.3(ATP10B):c.1963G>A (p.Val655Met)	ATP10B (V627M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131250	NM_025153.3(ATP10B):c.1948A>G (p.Ser650Gly)	ATP10B (S622G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656016	NM_025153.3(ATP10B):c.1942G>A (p.Gly648Arg)	ATP10B (G620R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210553	NM_025153.3(ATP10B):c.1876C>G (p.Gln626Glu)	ATP10B (Q598E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517889	NM_025153.3(ATP10B):c.1807C>A (p.Gln603Lys)	ATP10B (Q591K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131249	NM_025153.3(ATP10B):c.1739T>C (p.Ile580Thr)	ATP10B (I552T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394421	NM_025153.3(ATP10B):c.1715C>G (p.Ala572Gly)	ATP10B (A572G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465744	NM_025153.3(ATP10B):c.1664G>T (p.Arg555Leu)	ATP10B (R555L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131248	NM_025153.3(ATP10B):c.1580G>A (p.Arg527His)	ATP10B (R499H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462491	NM_025153.3(ATP10B):c.1535G>A (p.Arg512Gln)	ATP10B (R500Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131247	NM_025153.3(ATP10B):c.1534C>T (p.Arg512Trp)	ATP10B (R484W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476903	NM_025153.3(ATP10B):c.1463G>C (p.Arg488Thr)	ATP10B (R460T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327385	NM_025153.3(ATP10B):c.1388G>A (p.Arg463Gln)	ATP10B (R435Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131246	NM_025153.3(ATP10B):c.1373A>G (p.Gln458Arg)	ATP10B (Q446R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327412	NM_025153.3(ATP10B):c.1360G>A (p.Glu454Lys)	ATP10B (E426K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260018	NM_025153.3(ATP10B):c.1304C>T (p.Thr435Met)	ATP10B (T479M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213930	NM_025153.3(ATP10B):c.1288A>C (p.Ile430Leu)	ATP10B (I474L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289525	NM_025153.3(ATP10B):c.1273G>A (p.Gly425Ser)	ATP10B (G397S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475262	NM_025153.3(ATP10B):c.1267G>C (p.Asp423His)	ATP10B (D395H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327374	NM_025153.3(ATP10B):c.1247G>A (p.Arg416Gln)	ATP10B (R416Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327483	NM_025153.3(ATP10B):c.1237A>T (p.Ile413Phe)	ATP10B (I385F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131245	NM_025153.3(ATP10B):c.1228G>A (p.Asp410Asn)	ATP10B (D410N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263294	NM_025153.3(ATP10B):c.1222G>C (p.Glu408Gln)	ATP10B (E396Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553569	NM_025153.3(ATP10B):c.1160T>C (p.Ile387Thr)	ATP10B (I387T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553568	NM_025153.3(ATP10B):c.1091G>T (p.Gly364Val)	ATP10B (G336V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327512	NM_025153.3(ATP10B):c.1062T>G (p.Asn354Lys)	ATP10B (N354K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545874	NM_025153.3(ATP10B):c.961A>G (p.Ile321Val)	ATP10B (I365V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399759	NM_025153.3(ATP10B):c.931C>T (p.Arg311Trp)	ATP10B (R311W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131273	NM_025153.3(ATP10B):c.911A>G (p.Tyr304Cys)	ATP10B (Y348C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559648	NM_025153.3(ATP10B):c.910T>A (p.Tyr304Asn)	ATP10B (Y304N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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