4179[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1280415	NC_000001.11:g.207751561G>A	CD46	Single nucleotide variant	not provided	GBenign
Select item 1247101	NC_000001.11:g.207751847G>A	CD46	Single nucleotide variant	not provided	GBenign
Select item 1222340	NC_000001.11:g.207752016C>G	CD46	Single nucleotide variant	not provided	GBenign
Select item 874783	NM_172351.3(CD46):c.-127A>G	CD46	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 875706	NM_172351.3(CD46):c.-11C>A	CD46, LOC129932405	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GLikely benign
Select item 875707	NM_172351.3(CD46):c.-10C>T	CD46, LOC129932405	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294966	NM_172351.3(CD46):c.-6C>T	LOC129932405, CD46	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 2600764	NM_172351.3(CD46):c.10C>T (p.Pro4Ser)	CD46, LOC129932405 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2090466	NM_172351.3(CD46):c.11C>T (p.Pro4Leu)	CD46, LOC129932405 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459428	NM_172351.3(CD46):c.12C>T (p.Pro4=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044739	NM_172351.3(CD46):c.15C>A (p.Gly5=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	CD46-related disorder	GLikely benign
Select item 1415199	NM_172351.3(CD46):c.17G>T (p.Arg6Leu)	CD46, LOC129932405 (R6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617725	NM_172351.3(CD46):c.30C>G (p.Pro10=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962729	NM_172351.3(CD46):c.35C>T (p.Pro12Leu)	CD46, LOC129932405 (P12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875708	NM_172351.3(CD46):c.38C>T (p.Ser13Phe)	CD46, LOC129932405 (S13F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign
Select item 1503301	NM_172351.3(CD46):c.40T>C (p.Trp14Arg)	CD46, LOC129932405 (W14R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953339	NM_172351.3(CD46):c.52G>A (p.Gly18Arg)	CD46, LOC129932405 (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716916	NM_172351.3(CD46):c.57G>T (p.Leu19Phe)	CD46, LOC129932405 (L19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550663	NM_172351.3(CD46):c.58C>T (p.Leu20Phe)	CD46, LOC129932405 (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2091812	NM_172351.3(CD46):c.59T>C (p.Leu20Pro)	CD46, LOC129932405 (L20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351454	NM_172351.3(CD46):c.65C>A (p.Ala22Glu)	CD46, LOC129932405 (A22E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542840	NM_172351.3(CD46):c.68C>G (p.Ala23Gly)	CD46, LOC129932405 (A23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3010146	NM_172351.3(CD46):c.70A>C (p.Met24Leu)	CD46, LOC129932405 (M24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988105	NM_172351.3(CD46):c.70A>G (p.Met24Val)	CD46, LOC129932405 (M24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380033	NM_172351.3(CD46):c.71T>C (p.Met24Thr)	CD46, LOC129932405 (M24T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185016	NM_172351.3(CD46):c.72G>A (p.Met24Ile)	CD46, LOC129932405 (M24I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GUncertain significance
Select item 1712459	NM_172351.3(CD46):c.83del (p.Leu28fs)	CD46, LOC129932405 (L28fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 2798920	NM_172351.3(CD46):c.89_91del (p.Ser30del)	CD46, LOC129932405 (S30del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1434982	NM_172351.3(CD46):c.89C>G (p.Ser30Cys)	CD46, LOC129932405 (S30C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785845	NM_172351.3(CD46):c.96C>T (p.Ser32=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2129654	NM_172351.3(CD46):c.97G>T (p.Asp33Tyr)	CD46, LOC129932405 (D33Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163185	NM_172351.3(CD46):c.97G>C (p.Asp33His)	CD46, LOC129932405 (D33H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2837973	NM_172351.3(CD46):c.97+5G>T	CD46, LOC129932405	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2754080	NM_172351.3(CD46):c.97+7C>A	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665242	NM_172351.3(CD46):c.97+7C>T	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973275	NM_172351.3(CD46):c.97+8C>T	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944691	NM_172351.3(CD46):c.97+10C>T	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245951	NM_172351.3(CD46):c.98-192T>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257176	NM_172351.3(CD46):c.98-156G>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 17047	NM_172351.3(CD46):c.98-1G>C	CD46	Single nucleotide variant (splice acceptor variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Grisk factor
Select item 829967	NM_172351.3(CD46):c.101C>T (p.Ala34Val)	CD46 (A34V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 17049	NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)	CD46 (C35Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2167008	NM_172351.3(CD46):c.109G>A (p.Glu37Lys)	CD46 (E37K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 294967	NM_172351.3(CD46):c.118A>G (p.Thr40Ala)	CD46 (T40A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3236244	NM_172351.3(CD46):c.126_127del (p.Glu42fs)	CD46 (E42fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 2130701	NM_172351.3(CD46):c.128C>T (p.Ala43Val)	CD46 (A43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647199	NM_172351.3(CD46):c.130A>C (p.Met44Leu)	CD46 (M44L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2094251	NM_172351.3(CD46):c.132G>A (p.Met44Ile)	CD46 (M44I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163186	NM_172351.3(CD46):c.153del (p.Lys51fs)	CD46 (K51fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2991539	NM_172351.3(CD46):c.162T>C (p.Tyr54=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786722	NM_172351.3(CD46):c.166A>G (p.Ile56Val)	CD46 (I56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057788	NM_172351.3(CD46):c.167T>C (p.Ile56Thr)	CD46 (I56T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163187	NM_172351.3(CD46):c.169G>A (p.Gly57Ser)	CD46 (G57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17048	NM_172351.3(CD46):c.175C>T (p.Arg59Ter)	CD46 (R59*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1953780	NM_172351.3(CD46):c.176G>A (p.Arg59Gln)	CD46 (R59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635705	NM_172351.3(CD46):c.179T>C (p.Val60Ala)	CD46 (V60A)	Single nucleotide variant (missense variant)	CD46-related disorder +1 more	GUncertain significance
Select item 1940455	NM_172351.3(CD46):c.183T>A (p.Asp61Glu)	CD46 (D61E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697869	NM_172351.3(CD46):c.185A>G (p.Tyr62Cys)	CD46 (Y62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698741	NM_172351.3(CD46):c.191G>T (p.Cys64Phe)	CD46 (C64F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +2 more	GUncertain significance
Select item 1356334	NM_172351.3(CD46):c.191G>A (p.Cys64Tyr)	CD46 (C64Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185017	NM_172351.3(CD46):c.198A>T (p.Lys66Asn)	CD46 (K66N)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GConflicting classifications of pathogenicity
Select item 2847196	NM_172351.3(CD46):c.210_211delinsCG (p.Ile71Val)	CD46 (I71V)	Indel (missense variant)	not provided	GUncertain significance
Select item 2019070	NM_172351.3(CD46):c.216T>G (p.Pro72=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3061864	NM_172351.3(CD46):c.217C>T (p.Pro73Ser)	CD46 (P73S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 2842332	NM_172351.3(CD46):c.218C>T (p.Pro73Leu)	CD46 (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3140599	NM_172351.3(CD46):c.220C>T (p.Leu74Phe)	CD46 (L74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2885458	NM_172351.3(CD46):c.224C>T (p.Ala75Val)	CD46 (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771465	NM_172351.3(CD46):c.230A>G (p.His77Arg)	CD46 (H77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2463275	NM_172351.3(CD46):c.235A>G (p.Ile79Val)	CD46 (I79V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2202925	NM_172351.3(CD46):c.244C>T (p.Arg82Trp)	CD46 (R82W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875709	NM_172351.3(CD46):c.245G>A (p.Arg82Gln)	CD46 (R82Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2799169	NM_172351.3(CD46):c.251A>G (p.His84Arg)	CD46 (H84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2244751	NM_172351.3(CD46):c.251A>C (p.His84Pro)	CD46 (H84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1970652	NM_172351.3(CD46):c.251A>T (p.His84Leu)	CD46 (H84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650720	NM_172351.3(CD46):c.255A>G (p.Thr85=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010523	NM_172351.3(CD46):c.257G>A (p.Trp86Ter)	CD46 (W86*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1591086	NM_172351.3(CD46):c.261A>G (p.Leu87=)	CD46	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1722168	NM_172351.3(CD46):c.268T>G (p.Ser90Ala)	CD46 (S90A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 294968	NM_172351.3(CD46):c.276C>T (p.Asp92=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GConflicting classifications of pathogenicity
Select item 1951302	NM_172351.3(CD46):c.277G>T (p.Ala93Ser)	CD46 (A93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995268	NM_172351.3(CD46):c.278C>T (p.Ala93Val)	CD46 (A93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875710	NM_172351.3(CD46):c.285T>C (p.Tyr95=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +2 more	GConflicting classifications of pathogenicity
Select item 1163188	NM_172351.3(CD46):c.286+1G>C	CD46	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 505831	NM_172351.3(CD46):c.286+2T>G	CD46	Single nucleotide variant (splice donor variant)	Familial Atypical Hemolytic-Uremic Syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2008133	NM_172351.3(CD46):c.286+11_286+14del	CD46	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1167201	NM_172351.3(CD46):c.286+27dup	CD46	Duplication (intron variant)	not provided	GBenign
Select item 1642599	NM_172351.3(CD46):c.286+26_286+27del	CD46	Deletion (intron variant)	not provided	GBenign
Select item 1601347	NM_172351.3(CD46):c.286+27del	CD46	Deletion (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GBenign/Likely benign
Select item 2985953	NM_172351.3(CD46):c.287-17A>G	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1163189	NM_172351.3(CD46):c.287-2A>G	CD46	Single nucleotide variant (splice acceptor variant)	Thrombotic microangiopathy +2 more	GPathogenic/Likely pathogenic
Select item 875711	NM_172351.3(CD46):c.293C>T (p.Thr98Ile)	CD46 (T98I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1395997	NM_172351.3(CD46):c.304A>G (p.Ile102Val)	CD46 (I102V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035343	NM_172351.3(CD46):c.330A>G (p.Ala110=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374983	NM_172351.3(CD46):c.335C>T (p.Pro112Leu)	CD46 (P112L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173129	NM_172351.3(CD46):c.348T>G (p.Thr116=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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