8526[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 1238240	NM_003647.3(DGKE):c.-19+217G>T	DGKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249672	NM_003647.3(DGKE):c.-18-210G>A	DGKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047492	NM_003647.3(DGKE):c.-6G>A	DGKE	Single nucleotide variant (5 prime UTR variant)	DGKE-related disorder	GLikely benign
Select item 988188	NM_003647.3(DGKE):c.1A>T (p.Met1Leu)	DGKE (M1L)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 2088496	NM_003647.3(DGKE):c.20C>T (p.Pro7Leu)	DGKE (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708612	NM_003647.3(DGKE):c.21G>C (p.Pro7=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996411	NM_003647.3(DGKE):c.21G>A (p.Pro7=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 50789	NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)	DGKE (S11*)	Single nucleotide variant (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 7 +1 more	GLikely pathogenic; risk factor
Select item 290120	NM_003647.3(DGKE):c.35C>T (p.Pro12Leu)	DGKE (P12L)	Single nucleotide variant (missense variant)	DGKE-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2691387	NM_003647.3(DGKE):c.41A>G (p.Glu14Gly)	DGKE (E14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2040859	NM_003647.3(DGKE):c.42G>A (p.Glu14=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378134	NM_003647.3(DGKE):c.47_48delinsCT (p.Leu16Pro)	DGKE (L16P)	Indel (missense variant)	not provided	GUncertain significance
Select item 783790	NM_003647.3(DGKE):c.59G>A (p.Gly20Glu)	DGKE (G20E)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GBenign/Likely benign
Select item 1179079	NM_003647.3(DGKE):c.62_65dup (p.Ile23fs)	DGKE (I23fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 1694854	NM_003647.3(DGKE):c.64C>T (p.Leu22=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997951	NM_003647.3(DGKE):c.83G>A (p.Cys28Tyr)	DGKE (C28Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416172	NM_003647.3(DGKE):c.86C>G (p.Ser29Trp)	DGKE (S29W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193200	NM_003647.3(DGKE):c.97C>T (p.Pro33Ser)	DGKE (P33S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096237	NM_003647.3(DGKE):c.98C>G (p.Pro33Arg)	DGKE (P33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336879	NM_003647.3(DGKE):c.117G>C (p.Trp39Cys)	DGKE (W39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 39578	NM_003647.3(DGKE):c.127C>T (p.Gln43Ter)	DGKE (Q43*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 731569	NM_003647.3(DGKE):c.129G>A (p.Gln43=)	DGKE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2867481	NM_003647.3(DGKE):c.130C>A (p.Arg44=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961003	NM_003647.3(DGKE):c.141G>A (p.Arg47=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116234	NM_003647.3(DGKE):c.155G>A (p.Arg52Lys)	DGKE (R52K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859672	NM_003647.3(DGKE):c.162C>T (p.Ile54=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017611	NM_003647.3(DGKE):c.165C>T (p.Phe55=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985910	NM_003647.3(DGKE):c.166C>T (p.Arg56Cys)	DGKE (R56C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522494	NM_003647.3(DGKE):c.178C>G (p.His60Asp)	DGKE (H60D)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GLikely pathogenic
Select item 1235190	NM_003647.3(DGKE):c.183G>A (p.Gly61=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 50788	NM_003647.2(DGKE):c.188G>C (p.Arg63Pro)	DGKE (R63P)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 7	Grisk factor
Select item 2076260	NM_003647.3(DGKE):c.219C>G (p.Tyr73Ter)	DGKE (Y73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2758276	NM_003647.3(DGKE):c.225C>T (p.Cys75=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 992474	NM_003647.3(DGKE):c.233C>G (p.Ala78Gly)	DGKE (A78G)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +1 more	GUncertain significance
Select item 1163610	NM_003647.3(DGKE):c.235C>G (p.Gln79Glu)	DGKE (Q79E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1914744	NM_003647.3(DGKE):c.237G>A (p.Gln79=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965642	NM_003647.3(DGKE):c.246G>T (p.Leu82=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714226	NM_003647.3(DGKE):c.255C>T (p.Ala85=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163611	NM_003647.3(DGKE):c.259T>C (p.Cys87Arg)	DGKE (C87R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2285145	NM_003647.3(DGKE):c.277C>A (p.Arg93Ser)	DGKE (R93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608009	NM_003647.3(DGKE):c.284A>G (p.Asp95Gly)	DGKE (D95G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1507066	NM_003647.3(DGKE):c.288G>C (p.Glu96Asp)	DGKE (E96D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339010	NM_003647.3(DGKE):c.293G>A (p.Cys98Tyr)	DGKE (C98Y)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 446215	NM_003647.3(DGKE):c.301A>T (p.Lys101Ter)	DGKE (K101*)	Single nucleotide variant (nonsense)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 1032142	NM_003647.3(DGKE):c.303G>C (p.Lys101Asn)	DGKE (K101N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2046511	NM_003647.3(DGKE):c.318C>G (p.Phe106Leu)	DGKE (F106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705390	NM_003647.3(DGKE):c.322T>A (p.Cys108Ser)	DGKE (C108S)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 1409113	NM_003647.3(DGKE):c.328G>T (p.Glu110Ter)	DGKE (E110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3236025	NM_003647.3(DGKE):c.379T>A (p.Trp127Arg)	DGKE (W127R)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 1913232	NM_003647.3(DGKE):c.399C>G (p.Pro133=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071220	NM_003647.3(DGKE):c.427C>G (p.Gln143Glu)	DGKE (Q143E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409980	NM_003647.3(DGKE):c.427C>T (p.Gln143Ter)	DGKE (Q143*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2899581	NM_003647.3(DGKE):c.438C>T (p.Gly146=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074892	NM_003647.3(DGKE):c.445C>G (p.Pro149Ala)	DGKE (P149A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 812509	NM_003647.3(DGKE):c.447del (p.Lys150fs)	DGKE (K150fs)	Deletion (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 2131980	NM_003647.3(DGKE):c.457G>A (p.Asp153Asn)	DGKE (D153N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236183	NM_003647.3(DGKE):c.464G>A (p.Arg155Lys)	DGKE (R155K)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 1286426	NM_003647.3(DGKE):c.464+117A>G	DGKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292022	NM_003647.3(DGKE):c.465-205dup	DGKE	Duplication (intron variant)	not provided	GBenign
Select item 1243279	NM_003647.3(DGKE):c.465-209_465-205dup	DGKE	Duplication (intron variant)	not provided	GBenign
Select item 1238428	NM_003647.3(DGKE):c.465-210_465-205dup	DGKE	Duplication (intron variant)	not provided	GBenign
Select item 1242093	NM_003647.3(DGKE):c.465-58G>A	DGKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2024743	NM_003647.3(DGKE):c.465-10del	DGKE	Deletion (intron variant)	not provided	GLikely benign
Select item 2111117	NM_003647.3(DGKE):c.465-5C>T	DGKE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718637	NM_003647.3(DGKE):c.465-3C>T	DGKE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3068304	NM_003647.3(DGKE):c.465-2A>G	DGKE	Single nucleotide variant (splice acceptor variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GLikely pathogenic
Select item 135638	NM_003647.3(DGKE):c.472dup (p.Trp158fs)	DGKE (W158fs)	Duplication (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 2996189	NM_003647.3(DGKE):c.480G>A (p.Gln160=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 135639	NM_003647.3(DGKE):c.486dup (p.Val163fs)	DGKE (V163fs)	Duplication (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 7 +1 more	GLikely pathogenic; risk factor
Select item 2062617	NM_003647.3(DGKE):c.504G>A (p.Met168Ile)	DGKE (M168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081633	NM_003647.3(DGKE):c.519G>A (p.Lys173=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585436	NM_003647.3(DGKE):c.531T>G (p.Cys177Trp)	DGKE (C177W)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 1986460	NM_003647.3(DGKE):c.560T>A (p.Ile187Asn)	DGKE (I187N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2376306	NM_003647.3(DGKE):c.562C>A (p.Pro188Thr)	DGKE (P188T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1986461	NM_003647.3(DGKE):c.562_583del (p.Pro188fs)	DGKE (P188fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 636422	NM_003647.3(DGKE):c.568A>G (p.Ser190Gly)	DGKE (S190G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979311	NM_003647.3(DGKE):c.579A>T (p.Thr193=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259116	NM_003647.3(DGKE):c.579A>C (p.Thr193=)	DGKE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2183438	NM_003647.3(DGKE):c.601G>C (p.Asp201His)	DGKE (D201H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 635454	NM_003647.3(DGKE):c.610dup (p.Thr204fs)	DGKE (T204fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GPathogenic
Select item 39579	NM_003647.3(DGKE):c.610del (p.Thr204fs)	DGKE (T204fs)	Deletion (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GPathogenic
Select item 1700509	NM_003647.3(DGKE):c.624+4A>T	DGKE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2995710	NM_003647.3(DGKE):c.624+15T>C	DGKE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897688	NM_003647.3(DGKE):c.624+20C>G	DGKE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260841	NM_003647.3(DGKE):c.624+175C>T	DGKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241400	NM_003647.3(DGKE):c.625-247G>C	DGKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2791181	NM_003647.3(DGKE):c.625-20C>T	DGKE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634589	NM_003647.3(DGKE):c.625-13C>A	DGKE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2967947	NM_003647.3(DGKE):c.625-3dup	DGKE	Duplication (intron variant)	not provided	GBenign
Select item 1601113	NM_003647.3(DGKE):c.625-3del	DGKE	Deletion (intron variant)	not provided	GBenign
Select item 2007188	NM_003647.3(DGKE):c.625C>T (p.Leu209=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2416439	NM_003647.3(DGKE):c.626T>C (p.Leu209Pro)	DGKE (L209P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3055880	NM_003647.3(DGKE):c.640G>C (p.Gly214Arg)	DGKE (G214R)	Single nucleotide variant (missense variant)	DGKE-related disorder	GUncertain significance
Select item 2074128	NM_003647.3(DGKE):c.666C>T (p.Ile222=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270446	NM_003647.3(DGKE):c.697G>A (p.Gly233Arg)	DGKE (G233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416666	NM_003647.3(DGKE):c.708G>T (p.Leu236=)	DGKE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312987	NM_003647.3(DGKE):c.713G>A (p.Gly238Glu)	DGKE (G238E)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +3 more	GUncertain significance

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