23120[Gene ID] - 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	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	LOC129995100, LOC129995101 +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	LINC02159, LINC02202 +279 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +110 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	ADRA1B, ATP10B +107 more	Copy number loss	See cases	GPathogenic
Select item 2520934	NM_025153.3(ATP10B):c.4346G>A (p.Arg1449Lys)	ATP10B (R1437K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238733	NM_025153.3(ATP10B):c.4321A>G (p.Thr1441Ala)	ATP10B (T1441A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207776	NM_025153.3(ATP10B):c.4318C>G (p.Gln1440Glu)	ATP10B (Q1428E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474567	NM_025153.3(ATP10B):c.4250C>T (p.Ser1417Phe)	ATP10B (S1389F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245255	NM_025153.3(ATP10B):c.4244G>T (p.Gly1415Val)	ATP10B (G1387V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324984	NM_025153.3(ATP10B):c.4003G>T (p.Asp1335Tyr)	ATP10B (D1307Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411385	NM_025153.3(ATP10B):c.3979C>G (p.Leu1327Val)	ATP10B (L1315V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535930	NM_025153.3(ATP10B):c.3975G>T (p.Lys1325Asn)	ATP10B (K1325N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283973	NM_025153.3(ATP10B):c.3971G>A (p.Gly1324Glu)	ATP10B (G1296E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378142	NM_025153.3(ATP10B):c.3960A>T (p.Gln1320His)	ATP10B (Q1320H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309301	NM_025153.3(ATP10B):c.3901G>A (p.Val1301Ile)	ATP10B (V1289I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271405	NM_025153.3(ATP10B):c.3778G>A (p.Gly1260Ser)	ATP10B (G1248S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515636	NM_025153.3(ATP10B):c.3745A>G (p.Thr1249Ala)	ATP10B (T1221A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2464652	NM_025153.3(ATP10B):c.3269G>A (p.Arg1090His)	ATP10B (R1078H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392923	NM_025153.3(ATP10B):c.3203T>C (p.Ile1068Thr)	ATP10B (I1040T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310086	NM_025153.3(ATP10B):c.3142G>T (p.Val1048Phe)	ATP10B, LOC126807574 (V1020F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	LOC126807574, ATP10B (I994V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495880	NM_025153.3(ATP10B):c.2950T>C (p.Ser984Pro)	ATP10B, LOC126807574 (S984P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2286276	NM_025153.3(ATP10B):c.2904G>T (p.Lys968Asn)	ATP10B, LOC126807574 (K956N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319551	NM_025153.3(ATP10B):c.2891G>A (p.Arg964His)	ATP10B, LOC126807574 (R936H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2298464	NM_025153.3(ATP10B):c.2875G>A (p.Glu959Lys)	ATP10B, LOC126807574 (E947K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597354	NM_025153.3(ATP10B):c.2714G>A (p.Arg905Gln)	ATP10B (R877Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344285	NM_025153.3(ATP10B):c.2714G>C (p.Arg905Pro)	ATP10B (R877P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2490324	NM_025153.3(ATP10B):c.2620G>T (p.Ala874Ser)	ATP10B (A862S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2375193	NM_025153.3(ATP10B):c.2515A>T (p.Ile839Phe)	ATP10B (I839F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2612445	NM_025153.3(ATP10B):c.2321C>T (p.Ser774Phe)	ATP10B (S762F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519302	NM_025153.3(ATP10B):c.2305G>T (p.Val769Phe)	ATP10B (V757F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525302	NM_025153.3(ATP10B):c.2215G>A (p.Val739Met)	ATP10B (V711M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397108	NM_025153.3(ATP10B):c.2194C>T (p.His732Tyr)	ATP10B (H732Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493389	NM_025153.3(ATP10B):c.2169T>G (p.Asp723Glu)	ATP10B (D695E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259172	NM_025153.3(ATP10B):c.2049C>A (p.Ser683Arg)	ATP10B (S655R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2454422	NM_025153.3(ATP10B):c.1970C>T (p.Thr657Ile)	ATP10B (T645I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555940	NM_025153.3(ATP10B):c.1963G>A (p.Val655Met)	ATP10B (V627M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 2517889	NM_025153.3(ATP10B):c.1807C>A (p.Gln603Lys)	ATP10B (Q591K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394421	NM_025153.3(ATP10B):c.1715C>G (p.Ala572Gly)	ATP10B (A572G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465744	NM_025153.3(ATP10B):c.1664G>T (p.Arg555Leu)	ATP10B (R555L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462491	NM_025153.3(ATP10B):c.1535G>A (p.Arg512Gln)	ATP10B (R500Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476903	NM_025153.3(ATP10B):c.1463G>C (p.Arg488Thr)	ATP10B (R460T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260018	NM_025153.3(ATP10B):c.1304C>T (p.Thr435Met)	ATP10B (T479M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213930	NM_025153.3(ATP10B):c.1288A>C (p.Ile430Leu)	ATP10B (I474L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289525	NM_025153.3(ATP10B):c.1273G>A (p.Gly425Ser)	ATP10B (G397S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475262	NM_025153.3(ATP10B):c.1267G>C (p.Asp423His)	ATP10B (D395H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263294	NM_025153.3(ATP10B):c.1222G>C (p.Glu408Gln)	ATP10B (E396Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2553568	NM_025153.3(ATP10B):c.1091G>T (p.Gly364Val)	ATP10B (G336V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545874	NM_025153.3(ATP10B):c.961A>G (p.Ile321Val)	ATP10B (I365V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399759	NM_025153.3(ATP10B):c.931C>T (p.Arg311Trp)	ATP10B (R311W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559648	NM_025153.3(ATP10B):c.910T>A (p.Tyr304Asn)	ATP10B (Y304N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215589	NM_025153.3(ATP10B):c.878C>T (p.Thr293Met)	ATP10B (T265M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336518	NM_025153.3(ATP10B):c.860T>A (p.Ile287Asn)	ATP10B (I287N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337727	NM_025153.3(ATP10B):c.838G>A (p.Glu280Lys)	ATP10B (E324K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513924	NM_025153.3(ATP10B):c.676G>A (p.Glu226Lys)	ATP10B (E226K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535063	NM_025153.3(ATP10B):c.586C>T (p.Pro196Ser)	ATP10B (P168S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656018	NM_025153.3(ATP10B):c.482C>A (p.Thr161Asn)	ATP10B (T133N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656017	NM_025153.3(ATP10B):c.482C>T (p.Thr161Ile)	ATP10B (T133I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2316409	NM_025153.3(ATP10B):c.393C>G (p.Ile131Met)	ATP10B (I131M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398399	NM_025153.3(ATP10B):c.328A>G (p.Met110Val)	ATP10B (M110V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599898	NM_025153.3(ATP10B):c.250C>T (p.Arg84Trp)	ATP10B (R128W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476185	NM_025153.3(ATP10B):c.193A>G (p.Arg65Gly)	ATP10B (R109G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516546	NM_025153.3(ATP10B):c.184G>A (p.Val62Ile)	ATP10B (V62I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568584	NM_025153.3(ATP10B):c.137G>A (p.Arg46Gln)	ATP10B (R90Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623683	NM_025153.3(ATP10B):c.86C>A (p.Pro29Gln)	ATP10B (P73Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542583	NM_025153.3(ATP10B):c.34T>C (p.Trp12Arg)	ATP10B (W56R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590970	NM_025153.3(ATP10B):c.16G>C (p.Asp6His)	ATP10B (D6H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808993	GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3	ATP10B, C1QTNF2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814759	GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1	C1QTNF2, GABRB2 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814758	GRCh37/hg19 5q33.3-34(chr5:159623973-160000962)x3	CCNJL, SLU7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563116	GRCh37/hg19 5q33.3-34(chr5:159694389-160048347)x1	SLU7, CCNJL +5 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic

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