ClinVar for Gene (Select 10396) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131957	NM_006095.2(ATP8A1):c.3259C>A (p.Leu1087Met)	ATP8A1 (L1072M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131955	NM_006095.2(ATP8A1):c.3058G>C (p.Val1020Leu)	ATP8A1 (V1020L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131954	NM_006095.2(ATP8A1):c.2185A>G (p.Thr729Ala)	ATP8A1 (T550A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131953	NM_006095.2(ATP8A1):c.2177A>G (p.His726Arg)	ATP8A1 (H726R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131952	NM_006095.2(ATP8A1):c.2099A>G (p.Lys700Arg)	ATP8A1 (K521R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131951	NM_006095.2(ATP8A1):c.1994A>G (p.Asp665Gly)	ATP8A1 (D486G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131950	NM_006095.2(ATP8A1):c.1898T>C (p.Val633Ala)	ATP8A1 (V633A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131949	NM_006095.2(ATP8A1):c.1861G>A (p.Glu621Lys)	ATP8A1 (E606K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131948	NM_006095.2(ATP8A1):c.14G>A (p.Arg5Gln)	ATP8A1, LOC129992536 (R5Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131947	NM_006095.2(ATP8A1):c.1432T>C (p.Cys478Arg)	ATP8A1 (C463R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131946	NM_006095.2(ATP8A1):c.1412A>C (p.His471Pro)	ATP8A1 (H292P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2622196	NM_006095.2(ATP8A1):c.1492A>G (p.Lys498Glu)	ATP8A1 (K319E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2557469	NM_006095.2(ATP8A1):c.2178C>G (p.His726Gln)	ATP8A1 (H711Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523568	NM_006095.2(ATP8A1):c.786G>T (p.Trp262Cys)	ATP8A1 (W262C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493065	NM_006095.2(ATP8A1):c.1732A>G (p.Ile578Val)	ATP8A1 (I399V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480278	NM_006095.2(ATP8A1):c.1412A>T (p.His471Leu)	ATP8A1 (H292L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461713	NM_006095.2(ATP8A1):c.2383G>A (p.Val795Ile)	ATP8A1 (V787I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458145	NM_006095.2(ATP8A1):c.716G>C (p.Gly239Ala)	ATP8A1 (G239A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455667	NM_006095.2(ATP8A1):c.1508C>T (p.Ala503Val)	ATP8A1 (A324V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398413	NM_006095.2(ATP8A1):c.3211G>A (p.Val1071Ile)	ATP8A1 (V1071I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395922	NM_006095.2(ATP8A1):c.3181G>A (p.Ala1061Thr)	ATP8A1 (A1046T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390962	NM_006095.2(ATP8A1):c.2173C>T (p.Arg725Cys)	ATP8A1 (R546C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320310	NM_006095.2(ATP8A1):c.1391T>C (p.Leu464Pro)	ATP8A1 (L285P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301062	NM_006095.2(ATP8A1):c.1013G>C (p.Ser338Thr)	ATP8A1 (S338T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298245	NM_006095.2(ATP8A1):c.440A>C (p.His147Pro)	ATP8A1 (H147P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296760	NM_006095.2(ATP8A1):c.2839A>C (p.Asn947His)	ATP8A1 (N932H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292740	NM_006095.2(ATP8A1):c.2834G>C (p.Cys945Ser)	ATP8A1 (C930S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287906	NM_006095.2(ATP8A1):c.1528G>A (p.Ala510Thr)	ATP8A1 (A495T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279587	NM_006095.2(ATP8A1):c.1396A>T (p.Asn466Tyr)	ATP8A1 (N287Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277300	NM_006095.2(ATP8A1):c.694G>C (p.Val232Leu)	ATP8A1 (V232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276869	NM_006095.2(ATP8A1):c.2503G>A (p.Ala835Thr)	ATP8A1 (A820T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253965	NM_006095.2(ATP8A1):c.2254G>T (p.Ala752Ser)	ATP8A1 (A752S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249153	NM_006095.2(ATP8A1):c.1417A>G (p.Thr473Ala)	ATP8A1 (T458A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233701	NM_006095.2(ATP8A1):c.65A>T (p.Asp22Val)	ATP8A1 (D22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225670	NM_006095.2(ATP8A1):c.2525A>T (p.Asn842Ile)	ATP8A1 (N663I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807662	GRCh37/hg19 4p13(chr4:42473871-43049269)x3	ATP8A1, GRXCR1	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 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814546	GRCh37/hg19 4p13-12(chr4:42626603-45438191)x1	YIPF7, GRXCR1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 771141	NM_006095.2(ATP8A1):c.3213-4G>T	ATP8A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 562908	GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3	COX7B2, GABRG1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 395403	GRCh37/hg19 4p13(chr4:42507384-43027048)x3	ATP8A1, GRXCR1	Copy number gain	See cases	GLikely benign
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57