CRELD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	MTMR14, OGG1 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	LOC129936144, LOC129936145 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	LOC129929025, LOC129929026 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	ARPC4, ARPC4-TTLL3 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	LOC129936140, LOC129936141 +58 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1164864	NM_153460.4(IL17RC):c.2133C>G (p.Gly711=)	CRELD1, IL17RC +1 more	Single nucleotide variant (synonymous variant +1 more)	Candidiasis, familial, 9 +2 more	GBenign
Select item 1253493	NC_000003.12:g.9933669A>G	CRELD1, LOC129936144	Single nucleotide variant	not provided	GBenign
Select item 1257973	NC_000003.12:g.9933702C>G	LOC129936144, CRELD1	Single nucleotide variant	not provided	GBenign
Select item 1259816	NM_001077415.3(CRELD1):c.-52C>T	CRELD1, LOC129936145	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1279512	NM_001077415.3(CRELD1):c.-19-244T>C	CRELD1, LOC129936145	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1275722	NM_001077415.3(CRELD1):c.-19-86G>T	CRELD1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 700490	NM_001077415.3(CRELD1):c.33A>G (p.Pro11=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1164100	NM_001077415.3(CRELD1):c.37A>G (p.Met13Val)	CRELD1 (M13V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GBenign
Select item 137033	NM_001077415.3(CRELD1):c.37= (p.Met13=)	CRELD1	Single nucleotide variant (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 2268320	NM_001077415.3(CRELD1):c.47G>A (p.Gly16Asp)	CRELD1 (G16D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1606950	NM_001077415.3(CRELD1):c.66C>T (p.Asn22=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 1518524	NM_001077415.3(CRELD1):c.80T>G (p.Ile27Ser)	CRELD1 (I27S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1615675	NM_001077415.3(CRELD1):c.93C>T (p.Pro31=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GBenign
Select item 849743	NM_001077415.3(CRELD1):c.95C>T (p.Ser32Phe)	CRELD1 (S32F)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2401510	NM_001077415.3(CRELD1):c.119C>T (p.Pro40Leu)	CRELD1 (P40L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211407	NM_001077415.3(CRELD1):c.119C>G (p.Pro40Arg)	CRELD1 (P40R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1311086	NM_001077415.3(CRELD1):c.136T>G (p.Cys46Gly)	CRELD1 (C46G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889992	NM_001077415.3(CRELD1):c.174+11C>T	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 1615718	NM_001077415.3(CRELD1):c.175-19A>G	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 451405	NM_001077415.3(CRELD1):c.215A>G (p.Asn72Ser)	CRELD1 (N72S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2574123	NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)	CRELD1 (W75R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1699713	NM_001077415.3(CRELD1):c.232G>C (p.Glu78Gln)	CRELD1 (E78Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858136	NM_001077415.3(CRELD1):c.234G>T (p.Glu78Asp)	CRELD1 (E78D)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 817355	NM_001077415.3(CRELD1):c.254_257del (p.Asp85fs)	CRELD1 (D85fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 700432	NM_001077415.3(CRELD1):c.257+10T>G	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GBenign
Select item 1223326	NM_001077415.3(CRELD1):c.257+263C>T	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1605652	NM_001077415.3(CRELD1):c.258-13C>A	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GBenign/Likely benign
Select item 2040817	NM_001077415.3(CRELD1):c.258-7C>T	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2653504	NM_001077415.3(CRELD1):c.258-6G>A	CRELD1	Single nucleotide variant (intron variant)	CRELD1-related condition +1 more	GBenign/Likely benign
Select item 624205	NM_001077415.3(CRELD1):c.264C>T (p.Thr88=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 465834	NM_001077415.3(CRELD1):c.266G>A (p.Arg89His)	CRELD1 (R89H)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1087397	NM_001077415.3(CRELD1):c.288T>C (p.Gly96=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2247569	NM_001077415.3(CRELD1):c.310G>A (p.Glu104Lys)	CRELD1 (E104K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 701563	NM_001077415.3(CRELD1):c.312G>A (p.Glu104=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968907	NM_001077415.3(CRELD1):c.319C>T (p.Arg107Cys)	CRELD1 (R107C)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 3429	NM_001077415.3(CRELD1):c.320G>A (p.Arg107His)	CRELD1 (R107H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1677738	NM_001077415.3(CRELD1):c.357G>A (p.Trp119Ter)	CRELD1 (W119*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1571007	NM_001077415.3(CRELD1):c.368+7G>A	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 1252369	NM_001077415.3(CRELD1):c.369-39A>G	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 414253	NM_001077415.3(CRELD1):c.369-3C>T	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GLikely benign
Select item 238217	NM_001077415.3(CRELD1):c.383C>G (p.Pro128Arg)	CRELD1 (P128R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GBenign
Select item 1575974	NM_001077415.3(CRELD1):c.390C>G (p.Leu130=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2440560	NM_001077415.3(CRELD1):c.430C>G (p.Pro144Ala)	CRELD1 (P144A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2187780	NM_001077415.3(CRELD1):c.432C>T (p.Pro144=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2512498	NM_001077415.3(CRELD1):c.433G>A (p.Ala145Thr)	CRELD1 (A145T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1126836	NM_001077415.3(CRELD1):c.441C>T (p.Thr147=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2332245	NM_001077415.3(CRELD1):c.445G>A (p.Gly149Arg)	CRELD1 (G149R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1081799	NM_001077415.3(CRELD1):c.456C>T (p.Cys152=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 956320	NM_001077415.3(CRELD1):c.460C>T (p.Pro154Ser)	CRELD1 (P154S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1282127	NM_001077415.3(CRELD1):c.461-217A>G	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263162	NM_001077415.3(CRELD1):c.461-89A>G	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229493	NM_001077415.3(CRELD1):c.461-88AGGGAG[6]	CRELD1	Microsatellite (intron variant)	not provided	GBenign
Select item 3430	NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala)	CRELD1 (P162A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	Grisk factor
Select item 2306988	NM_001077415.3(CRELD1):c.490G>A (p.Gly164Ser)	CRELD1 (G164S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 197827	NM_001077415.3(CRELD1):c.498C>T (p.Tyr166=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 465835	NM_001077415.3(CRELD1):c.523C>T (p.Arg175Ter)	CRELD1 (R175*)	Single nucleotide variant (nonsense +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 534231	NM_001077415.3(CRELD1):c.524G>A (p.Arg175Gln)	CRELD1 (R175Q)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2672927	NM_001077415.3(CRELD1):c.561C>T (p.Tyr187=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1522151	NM_001077415.3(CRELD1):c.566del (p.Gly189fs)	CRELD1 (G189fs)	Deletion (frameshift variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1480454	NM_001077415.3(CRELD1):c.562G>A (p.Gly188Arg)	CRELD1 (G188R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1698941	NM_001077415.3(CRELD1):c.565G>A (p.Gly189Ser)	CRELD1 (G189S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 238218	NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)	CRELD1 (C192Y)	Single nucleotide variant (missense variant +1 more)	CRELD1-related condition +2 more	GUncertain significance
Select item 2574124	NM_001077415.3(CRELD1):c.587G>T (p.Gly196Val)	CRELD1 (G196V)	Single nucleotide variant (missense variant +1 more)	Ventricular septal defect 1	GPathogenic
Select item 1662012	NM_001077415.3(CRELD1):c.600T>C (p.Phe200=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2194155	NM_001077415.3(CRELD1):c.611G>A (p.Arg204His)	CRELD1 (R204H)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1499992	NM_001077415.3(CRELD1):c.613A>G (p.Asn205Asp)	CRELD1 (N205D)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 414254	NM_001077415.3(CRELD1):c.616G>A (p.Ala206Thr)	CRELD1 (A206T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GBenign
Select item 647903	NM_001077415.3(CRELD1):c.635C>T (p.Ser212Leu)	CRELD1 (S212L)	Single nucleotide variant (missense variant)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GUncertain significance
Select item 697377	NM_001077415.3(CRELD1):c.636G>A (p.Ser212=)	CRELD1	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 1674496	NM_001077415.3(CRELD1):c.637+20G>A	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GBenign
Select item 930822	NM_001077415.3(CRELD1):c.658C>T (p.Arg220Ter)	CRELD1 (R220*)	Single nucleotide variant (nonsense +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1165985	NM_001077415.3(CRELD1):c.659G>A (p.Arg220Gln)	CRELD1 (R220Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2720451	NM_001077415.3(CRELD1):c.661T>C (p.Cys221Arg)	CRELD1 (C221R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 730776	NM_001077415.3(CRELD1):c.666A>G (p.Ser222=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 1305555	NM_001077415.3(CRELD1):c.699G>C (p.Lys233Asn)	CRELD1 (K233N)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 1559799	NM_001077415.3(CRELD1):c.712C>T (p.Leu238=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign

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