13549[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2274250	NM_020453.4(ATP10D):c.77G>A (p.Gly26Glu)	ATP10D (G26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131288	NM_020453.4(ATP10D):c.80C>G (p.Pro27Arg)	ATP10D (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410908	NM_020453.4(ATP10D):c.89A>G (p.Tyr30Cys)	ATP10D (Y30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369356	NM_020453.4(ATP10D):c.95C>T (p.Ser32Leu)	ATP10D (S32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269885	NM_020453.4(ATP10D):c.285T>A (p.Phe95Leu)	ATP10D (F95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283738	NM_020453.4(ATP10D):c.329A>G (p.Asn110Ser)	ATP10D (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131284	NM_020453.4(ATP10D):c.410A>C (p.Lys137Thr)	ATP10D (K137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131287	NM_020453.4(ATP10D):c.431G>A (p.Arg144Gln)	ATP10D (R144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611484	NM_020453.4(ATP10D):c.439A>G (p.Lys147Glu)	ATP10D (K147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269690	NM_020453.4(ATP10D):c.479A>G (p.Tyr160Cys)	ATP10D (Y160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2798130	NM_020453.4(ATP10D):c.486-18dup	ATP10D	Duplication (intron variant)	not provided	GLikely benign
Select item 791977	NM_020453.4(ATP10D):c.545G>A (p.Arg182His)	ATP10D (R182H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2403538	NM_020453.4(ATP10D):c.559G>A (p.Glu187Lys)	ATP10D (E187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272139	NM_020453.4(ATP10D):c.660G>C (p.Gln220His)	ATP10D (Q220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327575	NM_020453.4(ATP10D):c.721A>G (p.Ser241Gly)	ATP10D (S241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470269	NM_020453.4(ATP10D):c.767G>A (p.Arg256Gln)	ATP10D (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214054	NM_020453.4(ATP10D):c.797G>A (p.Arg266His)	ATP10D (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359674	NM_020453.4(ATP10D):c.799G>A (p.Val267Met)	ATP10D (V267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327528	NM_020453.4(ATP10D):c.886C>T (p.His296Tyr)	ATP10D (H296Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398710	NM_020453.4(ATP10D):c.932G>A (p.Arg311His)	ATP10D (R311H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327594	NM_020453.4(ATP10D):c.979A>G (p.Met327Val)	ATP10D (M327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547287	NM_020453.4(ATP10D):c.1028G>T (p.Trp343Leu)	ATP10D (W343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615083	NM_020453.4(ATP10D):c.1035C>A (p.Ser345Arg)	ATP10D (S345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371681	NM_020453.4(ATP10D):c.1046A>G (p.Lys349Arg)	ATP10D (K349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327542	NM_020453.4(ATP10D):c.1166A>C (p.Tyr389Ser)	ATP10D (Y389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228934	NM_020453.4(ATP10D):c.1201T>C (p.Tyr401His)	ATP10D (Y401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131274	NM_020453.4(ATP10D):c.1207A>G (p.Ile403Val)	ATP10D (I403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509620	NM_020453.4(ATP10D):c.1237A>G (p.Lys413Glu)	ATP10D (K413E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559541	NM_020453.4(ATP10D):c.1257G>T (p.Gln419His)	ATP10D (Q419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327535	NM_020453.4(ATP10D):c.1312G>A (p.Asp438Asn)	ATP10D (D438N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368580	NM_020453.4(ATP10D):c.1436A>T (p.Asp479Val)	ATP10D (D479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333327	NM_020453.4(ATP10D):c.1441G>A (p.Asp481Asn)	ATP10D (D481N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285423	NM_020453.4(ATP10D):c.1487C>T (p.Pro496Leu)	ATP10D (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278549	NM_020453.4(ATP10D):c.1498A>G (p.Ser500Gly)	ATP10D (S500G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469507	NM_020453.4(ATP10D):c.1502G>A (p.Cys501Tyr)	ATP10D (C501Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131276	NM_020453.4(ATP10D):c.1634T>C (p.Ile545Thr)	ATP10D (I545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217969	NM_020453.4(ATP10D):c.1670A>G (p.Asp557Gly)	ATP10D (D557G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375266	NM_020453.4(ATP10D):c.1693C>T (p.Arg565Trp)	ATP10D (R565W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510495	NM_020453.4(ATP10D):c.1817G>A (p.Arg606Gln)	ATP10D (R606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254129	NM_020453.4(ATP10D):c.1847G>A (p.Gly616Glu)	ATP10D (G616E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204145	NM_020453.4(ATP10D):c.1904G>A (p.Arg635Gln)	ATP10D (R635Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386955	NM_020453.4(ATP10D):c.1922C>T (p.Ser641Leu)	ATP10D (S641L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327602	NM_020453.4(ATP10D):c.1994G>C (p.Arg665Pro)	ATP10D (R665P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521236	NM_020453.4(ATP10D):c.2039G>A (p.Cys680Tyr)	ATP10D (C680Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407332	NM_020453.4(ATP10D):c.2048C>T (p.Pro683Leu)	ATP10D (P683L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312493	NM_020453.4(ATP10D):c.2104G>A (p.Ala702Thr)	ATP10D (A702T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522583	NM_020453.4(ATP10D):c.2108G>C (p.Gly703Ala)	ATP10D (G703A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131278	NM_020453.4(ATP10D):c.2125G>A (p.Ala709Thr)	ATP10D (A709T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607881	NM_020453.4(ATP10D):c.2176G>A (p.Glu726Lys)	ATP10D (E726K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323967	NM_020453.4(ATP10D):c.2239C>T (p.Arg747Trp)	ATP10D (R747W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396528	NM_020453.4(ATP10D):c.2269G>C (p.Ala757Pro)	ATP10D (A757P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215925	NM_020453.4(ATP10D):c.2279G>A (p.Gly760Glu)	ATP10D (G760E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607882	NM_020453.4(ATP10D):c.2287A>G (p.Thr763Ala)	ATP10D (T763A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131279	NM_020453.4(ATP10D):c.2640G>A (p.Met880Ile)	ATP10D (M880I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276235	NM_020453.4(ATP10D):c.2717T>C (p.Ile906Thr)	ATP10D (I906T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211486	NM_020453.4(ATP10D):c.2728C>A (p.His910Asn)	ATP10D (H910N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465308	NM_020453.4(ATP10D):c.2740A>G (p.Ile914Val)	ATP10D (I914V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369579	NM_020453.4(ATP10D):c.2782G>A (p.Val928Ile)	ATP10D (V928I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211663	NM_020453.4(ATP10D):c.2881A>G (p.Ile961Val)	ATP10D (I961V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476994	NM_020453.4(ATP10D):c.2965C>G (p.Arg989Gly)	ATP10D (R989G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486020	NM_020453.4(ATP10D):c.3044A>G (p.Gln1015Arg)	ATP10D (Q1015R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131280	NM_020453.4(ATP10D):c.3089G>A (p.Arg1030Gln)	ATP10D (R1030Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337672	NM_020453.4(ATP10D):c.3233G>T (p.Gly1078Val)	ATP10D (G1078V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408805	NM_020453.4(ATP10D):c.3237G>T (p.Met1079Ile)	ATP10D (M1079I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468488	NM_020453.4(ATP10D):c.3265G>A (p.Val1089Ile)	ATP10D (V1089I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131281	NM_020453.4(ATP10D):c.3399C>G (p.Phe1133Leu)	ATP10D (F1133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213409	NM_020453.4(ATP10D):c.3505G>A (p.Asp1169Asn)	ATP10D (D1169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391411	NM_020453.4(ATP10D):c.3614A>G (p.Tyr1205Cys)	ATP10D (Y1205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327582	NM_020453.4(ATP10D):c.3668C>T (p.Thr1223Ile)	ATP10D (T1223I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212330	NM_020453.4(ATP10D):c.3698A>T (p.Asn1233Ile)	ATP10D (N1233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327553	NM_020453.4(ATP10D):c.3706G>A (p.Ala1236Thr)	ATP10D (A1236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392137	NM_020453.4(ATP10D):c.3779T>C (p.Ile1260Thr)	ATP10D (I1260T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3327613	NM_020453.4(ATP10D):c.3840C>G (p.Cys1280Trp)	ATP10D (C1280W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131282	NM_020453.4(ATP10D):c.3880A>G (p.Met1294Val)	ATP10D (M1294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474782	NM_020453.4(ATP10D):c.3898T>A (p.Tyr1300Asn)	ATP10D (Y1300N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257442	NM_020453.4(ATP10D):c.3904G>A (p.Val1302Ile)	ATP10D (V1302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131283	NM_020453.4(ATP10D):c.3917C>T (p.Thr1306Met)	ATP10D (T1306M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277865	NM_020453.4(ATP10D):c.3965G>A (p.Gly1322Glu)	ATP10D (G1322E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327564	NM_020453.4(ATP10D):c.4088A>G (p.Tyr1363Cys)	ATP10D (Y1363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282819	NM_020453.4(ATP10D):c.4145T>C (p.Val1382Ala)	ATP10D (V1382A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257249	NM_020453.4(ATP10D):c.4177A>G (p.Ile1393Val)	ATP10D (I1393V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569723	NM_020453.4(ATP10D):c.4180G>C (p.Glu1394Gln)	ATP10D (E1394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371373	NM_020453.4(ATP10D):c.4195T>C (p.Ser1399Pro)	ATP10D (S1399P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131285	NM_020453.4(ATP10D):c.4268G>A (p.Gly1423Asp)	ATP10D (G1423D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024632	GRCh37/hg19 4p12(chr4:47163266-47538581)x3	ATP10D, COMMD8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685964	GRCh37/hg19 4p12(chr4:47375627-47618689)x3	ATP10D, COMMD8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527085	GRCh37/hg19 4p12(chr4:47488430-47906770)	ATP10D, CORIN +1 more	Copy number gain	not specified	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 694454	GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	ATP10D, CNGA1 +11 more	Copy number gain	Autism	GLikely pathogenic

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