819[HGNC] - ClinVar - NCBI

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	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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2765242	NM_000704.3(ATP4A):c.3080-17C>T	ATP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931903	NM_000704.3(ATP4A):c.3065G>A (p.Arg1022His)	ATP4A (R1022H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697507	NM_000704.3(ATP4A):c.3062T>C (p.Val1021Ala)	ATP4A (V1021A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764467	NM_000704.3(ATP4A):c.3018C>T (p.Tyr1006=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509289	NM_000704.3(ATP4A):c.2983A>G (p.Ile995Val)	ATP4A (I995V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337060	NM_000704.3(ATP4A):c.2942G>A (p.Cys981Tyr)	ATP4A (C981Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2857941	NM_000704.3(ATP4A):c.2940G>A (p.Leu980=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131636	NM_000704.3(ATP4A):c.2929G>C (p.Gly977Arg)	ATP4A (G977R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213356	NM_000704.3(ATP4A):c.2911G>A (p.Val971Met)	ATP4A (V971M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1987421	NM_000704.3(ATP4A):c.2885+16C>T	ATP4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2509402	NM_000704.3(ATP4A):c.2851C>T (p.Arg951Cys)	ATP4A (R951C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248046	NM_000704.3(ATP4A):c.2836C>G (p.Leu946Val)	ATP4A (L946V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326634	NM_000704.3(ATP4A):c.2832T>A (p.Asp944Glu)	ATP4A (D944E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131635	NM_000704.3(ATP4A):c.2764C>T (p.Arg922Cys)	ATP4A (R922C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3023906	NM_000704.3(ATP4A):c.2751+15G>A	ATP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714647	NM_000704.3(ATP4A):c.2713C>A (p.His905Asn)	ATP4A (H905N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3131634	NM_000704.3(ATP4A):c.2683G>A (p.Val895Met)	ATP4A (V895M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329801	NM_000704.3(ATP4A):c.2641T>C (p.Phe881Leu)	ATP4A (F881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1902981	NM_000704.3(ATP4A):c.2605+11G>A	ATP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2223124	NM_000704.3(ATP4A):c.2596T>C (p.Phe866Leu)	ATP4A (F866L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131633	NM_000704.3(ATP4A):c.2555G>A (p.Arg852His)	ATP4A (R852H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329200	NM_000704.3(ATP4A):c.2528T>C (p.Met843Thr)	ATP4A (M843T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1987193	NM_000704.3(ATP4A):c.2482-12A>G	ATP4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720455	NM_000704.3(ATP4A):c.2430C>T (p.Pro810=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3329177	NM_000704.3(ATP4A):c.2419G>A (p.Val807Ile)	ATP4A (V807I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326804	NM_000704.3(ATP4A):c.2360T>C (p.Ile787Thr)	ATP4A (I787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601548	NM_000704.3(ATP4A):c.2340C>T (p.Phe780=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 797741	NM_000704.3(ATP4A):c.2327-5C>T	ATP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906263	NM_000704.3(ATP4A):c.2242G>A (p.Ala748Thr)	ATP4A (A748T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921796	NM_000704.3(ATP4A):c.2223C>T (p.Ile741=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530927	NM_000704.3(ATP4A):c.2213A>G (p.Lys738Arg)	ATP4A (K738R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523845	NM_000704.3(ATP4A):c.2152C>T (p.Arg718Trp)	ATP4A (R718W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686485	NM_000704.3(ATP4A):c.2107C>T (p.Arg703Cys)	ATP4A (R703C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2881179	NM_000704.3(ATP4A):c.2098G>C (p.Val700Leu)	ATP4A (V700L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083245	NM_000704.3(ATP4A):c.2091C>T (p.Pro697=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710383	NM_000704.3(ATP4A):c.2070C>T (p.Val690=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2293022	NM_000704.3(ATP4A):c.2060C>T (p.Ser687Leu)	ATP4A (S687L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784832	NM_000704.3(ATP4A):c.2039A>T (p.Gln680Leu)	ATP4A (Q680L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2355699	NM_000704.3(ATP4A):c.2014C>T (p.Arg672Cys)	ATP4A (R672C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601669	NM_000704.3(ATP4A):c.2006+11C>A	ATP4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2396063	NM_000704.3(ATP4A):c.2003G>T (p.Arg668Leu)	ATP4A (R668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2082602	NM_000704.3(ATP4A):c.2002C>T (p.Arg668Cys)	ATP4A (R668C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 711998	NM_000704.3(ATP4A):c.1986C>T (p.Pro662=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131632	NM_000704.3(ATP4A):c.1979G>A (p.Arg660His)	ATP4A (R660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2974845	NM_000704.3(ATP4A):c.1978C>T (p.Arg660Cys)	ATP4A (R660C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442529	NM_000704.3(ATP4A):c.1947C>T (p.Ser649=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 791048	NM_000704.3(ATP4A):c.1857C>T (p.Thr619=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2616765	NM_000704.3(ATP4A):c.1852C>T (p.Arg618Cys)	ATP4A (R618C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388575	NM_000704.3(ATP4A):c.1828G>A (p.Val610Ile)	ATP4A (V610I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2907467	NM_000704.3(ATP4A):c.1819C>T (p.Arg607Trp)	ATP4A (R607W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546196	NM_000704.3(ATP4A):c.1804A>G (p.Met602Val)	ATP4A (M602V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713236	NM_000704.3(ATP4A):c.1752A>G (p.Val584=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131631	NM_000704.3(ATP4A):c.1747G>A (p.Asp583Asn)	ATP4A (D583N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540044	NM_000704.3(ATP4A):c.1697T>G (p.Phe566Cys)	ATP4A (F566C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2077444	NM_000704.3(ATP4A):c.1680C>A (p.Gly560=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2887952	NM_000704.3(ATP4A):c.1675C>T (p.Leu559=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2355534	NM_000704.3(ATP4A):c.1673G>A (p.Gly558Asp)	ATP4A (G558D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733534	NM_000704.3(ATP4A):c.1653C>A (p.Thr551=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131629	NM_000704.3(ATP4A):c.1604A>G (p.Lys535Arg)	ATP4A (K535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717755	NM_000704.3(ATP4A):c.1589G>A (p.Ser530Asn)	ATP4A (S530N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2546917	NM_000704.3(ATP4A):c.1585T>C (p.Cys529Arg)	ATP4A (C529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375237	NM_000704.3(ATP4A):c.1522G>A (p.Asp508Asn)	ATP4A (D508N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1953270	NM_000704.3(ATP4A):c.1514C>A (p.Thr505Lys)	ATP4A (T505K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598599	NM_000704.3(ATP4A):c.1509C>A (p.Ile503=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2190292	NM_000704.3(ATP4A):c.1501-10C>G	ATP4A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956110	NM_000704.3(ATP4A):c.1501-11C>G	ATP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988149	NM_000704.3(ATP4A):c.1501-15C>T	ATP4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600838	NM_000704.3(ATP4A):c.1500+5G>T	ATP4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2053948	NM_000704.3(ATP4A):c.1486A>C (p.Thr496Pro)	ATP4A (T496P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3131628	NM_000704.3(ATP4A):c.1461A>T (p.Lys487Asn)	ATP4A (K487N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549339	NM_000704.3(ATP4A):c.1456C>A (p.Pro486Thr)	ATP4A (P486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2050453	NM_000704.3(ATP4A):c.1428C>T (p.Gly476=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131627	NM_000704.3(ATP4A):c.1370T>A (p.Ile457Asn)	ATP4A (I457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131626	NM_000704.3(ATP4A):c.1360C>T (p.Pro454Ser)	ATP4A (P454S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480146	NM_000704.3(ATP4A):c.1351G>C (p.Val451Leu)	ATP4A (V451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262542	NM_000704.3(ATP4A):c.1344G>C (p.Gln448His)	ATP4A (Q448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072965	NM_000704.3(ATP4A):c.1273T>A (p.Ser425Thr)	ATP4A (S425T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732282	NM_000704.3(ATP4A):c.1256G>A (p.Gly419Glu)	ATP4A (G419E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2288303	NM_000704.3(ATP4A):c.1247A>G (p.Asp416Gly)	ATP4A (D416G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131624	NM_000704.3(ATP4A):c.1189A>G (p.Met397Val)	ATP4A (M397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2784589	NM_000704.3(ATP4A):c.1186C>T (p.Arg396Cys)	ATP4A (R396C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277299	NM_000704.3(ATP4A):c.1157C>G (p.Ser386Trp)	ATP4A (S386W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2858210	NM_000704.3(ATP4A):c.1113C>T (p.Asn371=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2390162	NM_000704.3(ATP4A):c.1111A>G (p.Asn371Asp)	ATP4A (N371D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294711	NM_000704.3(ATP4A):c.1075G>A (p.Ala359Thr)	ATP4A, LOC130064245 (A359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3023162	NM_000704.3(ATP4A):c.1056+16C>T	ATP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764351	NM_000704.3(ATP4A):c.1056+7G>A	ATP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1510662	NM_000704.3(ATP4A):c.1015G>A (p.Val339Met)	ATP4A (V339M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329155	NM_000704.3(ATP4A):c.988C>T (p.Arg330Trp)	ATP4A (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131642	NM_000704.3(ATP4A):c.980C>G (p.Thr327Ser)	ATP4A (T327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462501	NM_000704.3(ATP4A):c.967T>G (p.Cys323Gly)	ATP4A (C323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271791	NM_000704.3(ATP4A):c.956T>C (p.Ile319Thr)	ATP4A (I319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1928990	NM_000704.3(ATP4A):c.931A>G (p.Ile311Val)	ATP4A (I311V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3131641	NM_000704.3(ATP4A):c.898G>A (p.Glu300Lys)	ATP4A (E300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2865313	NM_000704.3(ATP4A):c.897C>T (p.Ile299=)	ATP4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131640	NM_000704.3(ATP4A):c.866A>G (p.Glu289Gly)	ATP4A (E289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305744	NM_000704.3(ATP4A):c.859G>A (p.Gly287Arg)	ATP4A (G287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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