ClinVar for Gene (Select 6011) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058671	NM_002929.3(GRK1):c.264C>T (p.Leu88=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related condition	GLikely benign
Select item 3053999	NM_002929.3(GRK1):c.*2T>C	GRK1	Single nucleotide variant (3 prime UTR variant)	GRK1-related condition	GLikely benign
Select item 3053309	NM_002929.3(GRK1):c.1098C>G (p.Gly366=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related condition	GLikely benign
Select item 3052792	NM_002929.3(GRK1):c.1161G>A (p.Ala387=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related condition	GLikely benign
Select item 3044080	NM_002929.3(GRK1):c.1194+7G>A	GRK1	Single nucleotide variant (intron variant)	GRK1-related condition	GLikely benign
Select item 3043523	NM_002929.3(GRK1):c.1407G>A (p.Met469Ile)	GRK1 (M469I)	Single nucleotide variant (missense variant)	GRK1-related condition	GLikely benign
Select item 3035717	NM_002929.3(GRK1):c.1050G>A (p.Lys350=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related condition	GLikely benign
Select item 3035446	NM_002929.3(GRK1):c.1575G>A (p.Thr525=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related condition	GLikely benign
Select item 3034515	NM_002929.3(GRK1):c.234G>A (p.Ser78=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related condition	GLikely benign
Select item 2615785	NM_000705.4(ATP4B):c.497C>A (p.Ala166Glu)	ATP4B, GRK1 (A166E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606349	NM_000705.4(ATP4B):c.139T>C (p.Phe47Leu)	ATP4B, GRK1 (F47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592775	NM_002929.3(GRK1):c.746T>C (p.Phe249Ser)	GRK1 (F249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582915	NM_002929.3(GRK1):c.655A>C (p.Lys219Gln)	GRK1 (K219Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2546257	NM_000705.4(ATP4B):c.769G>A (p.Ala257Thr)	ATP4B, GRK1 (A257T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544527	NM_000705.4(ATP4B):c.424T>G (p.Phe142Val)	ATP4B, GRK1 (F142V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540913	NM_002929.3(GRK1):c.430G>T (p.Gly144Trp)	GRK1 (G144W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538849	NM_002929.3(GRK1):c.464C>T (p.Ala155Val)	GRK1 (A155V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533287	NM_002929.3(GRK1):c.297C>G (p.Asp99Glu)	GRK1 (D99E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525644	NM_002929.3(GRK1):c.572T>A (p.Leu191Gln)	GRK1 (L191Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516827	NM_000705.4(ATP4B):c.623G>A (p.Arg208His)	ATP4B, GRK1 (R208H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465374	NM_000705.4(ATP4B):c.638C>T (p.Pro213Leu)	ATP4B, GRK1 (P213L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458107	NM_000705.4(ATP4B):c.464C>T (p.Thr155Met)	ATP4B, GRK1 (T155M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408765	NM_002929.3(GRK1):c.467A>T (p.His156Leu)	GRK1 (H156L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388297	NM_000705.4(ATP4B):c.865A>T (p.Ile289Phe)	ATP4B, GRK1 (I289F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374105	NM_002929.3(GRK1):c.621C>G (p.Cys207Trp)	GRK1 (C207W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365979	NM_002929.3(GRK1):c.463G>T (p.Ala155Ser)	GRK1 (A155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362249	NM_002929.3(GRK1):c.767C>T (p.Ala256Val)	GRK1 (A256V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359801	NM_000705.4(ATP4B):c.778G>A (p.Ala260Thr)	ATP4B, GRK1 (A260T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354093	NM_002929.3(GRK1):c.368G>A (p.Cys123Tyr)	GRK1 (C123Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352391	NM_002929.3(GRK1):c.151C>T (p.Arg51Cys)	GRK1 (R51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347511	NM_000705.4(ATP4B):c.662C>G (p.Pro221Arg)	GRK1, ATP4B (P221R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314547	NM_000705.4(ATP4B):c.178T>C (p.Tyr60His)	GRK1, ATP4B (Y60H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309392	NM_000705.4(ATP4B):c.37C>A (p.Arg13Ser)	ATP4B, GRK1 (R13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278550	NM_000705.4(ATP4B):c.808G>A (p.Val270Met)	GRK1, ATP4B (V270M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264041	NM_000705.4(ATP4B):c.77C>T (p.Thr26Met)	GRK1, ATP4B (T26M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237806	NM_002929.3(GRK1):c.289A>C (p.Thr97Pro)	GRK1 (T97P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233589	NM_002929.3(GRK1):c.362T>C (p.Leu121Pro)	GRK1 (L121P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228238	NM_002929.3(GRK1):c.395C>T (p.Ala132Val)	GRK1 (A132V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227223	NM_002929.3(GRK1):c.178A>C (p.Ser60Arg)	GRK1 (S60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221771	NM_000705.4(ATP4B):c.604G>A (p.Ala202Thr)	GRK1, ATP4B (A202T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2217593	NM_002929.3(GRK1):c.412C>A (p.Pro138Thr)	GRK1 (P138T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210175	NM_000705.4(ATP4B):c.220C>G (p.Gln74Glu)	GRK1, ATP4B (Q74E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710125	NM_002929.3(GRK1):c.508_516del (p.Tyr170_Leu172del)	GRK1	Deletion (inframe_deletion)	Oguchi disease-2	GLikely pathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 1288366	NM_002929.3(GRK1):c.700-113C>T	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281729	NM_002929.3(GRK1):c.1195-50A>G	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253118	NM_002929.3(GRK1):c.700-5T>C	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252362	NM_002929.3(GRK1):c.1397-44C>G	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245710	NM_002929.3(GRK1):c.986-13A>G	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243596	NC_000013.11:g.113667152G>A	GRK1	Single nucleotide variant	not provided	GBenign
Select item 871657	NM_002929.3(GRK1):c.1220G>A (p.Arg407Gln)	GRK1 (R407Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870442	NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys)	GRK1 (R438C)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870441	NM_002929.3(GRK1):c.55C>T (p.Arg19Ter)	GRK1 (R19*)	Single nucleotide variant (nonsense)	Oguchi disease-2	GLikely pathogenic
Select item 870440	NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)	GRK1 (D537fs)	Deletion (frameshift variant)	Oguchi disease-2 +1 more	GPathogenic/Likely pathogenic
Select item 870439	NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs)	GRK1 (P517fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 870438	NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs)	GRK1 (P471fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 870437	NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter)	GRK1 (R393*)	Single nucleotide variant (nonsense)	Oguchi disease-2	GLikely pathogenic
Select item 870436	NM_002929.3(GRK1):c.1138G>T (p.Val380Phe)	GRK1 (V380F)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870435	NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro)	GRK1 (A377P)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870434	NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys)	GRK1 (E362K)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870433	NM_002929.3(GRK1):c.971del (p.Leu324fs)	GRK1 (L324fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 870432	NM_002929.3(GRK1):c.923T>C (p.Leu308Pro)	GRK1 (L308P)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870431	NM_002929.3(GRK1):c.827+625_883del	GRK1	Deletion (splice acceptor variant)	Oguchi disease-2	GLikely pathogenic
Select item 870430	NM_002929.3(GRK1):c.614C>A (p.Ser205Ter)	GRK1 (S205*)	Single nucleotide variant (nonsense)	Oguchi disease-2	GLikely pathogenic
Select item 870429	NM_002929.3(GRK1):c.595G>C (p.Gly199Arg)	GRK1 (G199R)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870428	NM_002929.3(GRK1):c.470T>C (p.Leu157Pro)	GRK1 (L157P)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870427	NM_002929.3(GRK1):c.142_145del (p.Glu48fs)	GRK1 (E48fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 638310	NM_002929.3(GRK1):c.92G>A (p.Arg31Gln)	GRK1 (R31Q)	Single nucleotide variant (missense variant)	Oguchi disease	GUncertain significance
Select item 636033	NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)	GRK1 (Q462*)	Single nucleotide variant (nonsense)	Oguchi disease-2 +1 more	GLikely pathogenic
Select item 623833	NM_002929.3(GRK1):c.1313G>A (p.Arg438His)	GRK1 (R438H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 623832	NM_002929.3(GRK1):c.892A>G (p.Thr298Ala)	GRK1 (T298A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 522307	NM_002929.3(GRK1):c.162C>T (p.Leu54=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related condition +1 more	GBenign/Likely benign
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	LINC03082, LOC100506016 +325 more	Copy number gain	See cases	GUncertain significance
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	LINC02337, LINC03032 +332 more	Copy number loss	See cases	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	LOC124946347, LOC124946348 +179 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC130010070, LOC130010071 +663 more	Copy number gain	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	MCF2L-AS1, METTL21C +706 more	Copy number gain	See cases	GPathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	ABHD13, ADPRHL1 +321 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	LOC110008580, LOC110120930 +544 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130009994, LOC130009995 +705 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	ABHD13, ADPRHL1 +339 more	Copy number loss	See cases	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	ADPRHL1, ARHGEF7 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130010106, LOC130010107 +638 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic

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