ClinVar for Gene (Select 78987) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064667	NM_001077415.3(CRELD1):c.1128_1129del (p.Ala377fs)	CRELD1 (A349fs +1 more)	Microsatellite (3 prime UTR variant +2 more)	JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3032730	NM_001077415.3(CRELD1):c.1080A>G (p.Glu360=)	CRELD1	Single nucleotide variant (3 prime UTR variant +2 more)	CRELD1-related condition	GLikely benign
Select item 3012037	NM_001077415.3(CRELD1):c.1049-346del	CRELD1 (P393fs +1 more)	Deletion (intron variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2993162	NM_001077415.3(CRELD1):c.828G>A (p.Lys276=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	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 2914467	NM_001077415.3(CRELD1):c.733+16G>A	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GBenign
Select item 2898252	NM_001077415.3(CRELD1):c.1049-282G>C	CRELD1	Single nucleotide variant (synonymous variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2893816	NM_001077415.3(CRELD1):c.1049-270C>T	CRELD1	Single nucleotide variant (synonymous variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	GBenign
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 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 2851570	NM_001077415.3(CRELD1):c.1048+369T>C	CRELD1	Single nucleotide variant (3 prime UTR variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2790048	NM_001077415.3(CRELD1):c.1049-317C>T	CRELD1	Single nucleotide variant (synonymous variant +2 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GLikely benign
Select item 2727150	NM_001077415.3(CRELD1):c.1049-418G>A	CRELD1 (R369H +1 more)	Single nucleotide variant (missense variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
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 2706681	NM_001077415.3(CRELD1):c.1049-259C>G	CRELD1	Single nucleotide variant (3 prime UTR variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2682432	NM_001077415.3(CRELD1):c.*184G>A	CRELD1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 2653505	NM_001077415.3(CRELD1):c.744G>A (p.Glu248=)	CRELD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2579857	NM_001077415.3(CRELD1):c.1055C>T (p.Ala352Val)	CRELD1 (A324V +3 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 2579575	NM_001077415.3(CRELD1):c.848G>C (p.Gly283Ala)	CRELD1 (G255A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574126	NM_001077415.3(CRELD1):c.1049-401C>A	CRELD1 (H371N +1 more)	Single nucleotide variant (missense variant +2 more)	Ventricular septal defect 1	GPathogenic
Select item 2574125	NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)	CRELD1 (R260L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
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 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 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 2485289	NM_001077415.3(CRELD1):c.738T>G (p.Ile246Met)	CRELD1 (I246M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2446700	NM_001077415.3(CRELD1):c.1071G>C (p.Glu357Asp)	CRELD1 (E329D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2440559	NM_001077415.3(CRELD1):c.874T>C (p.Cys292Arg)	CRELD1 (C264R +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2440558	NM_001077415.3(CRELD1):c.913G>A (p.Asp305Asn)	CRELD1 (D277N +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 2429682	NM_001077415.3(CRELD1):c.1246T>C (p.Phe416Leu)	CRELD1 (F388L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2427431	NC_000003.11:g.(?_9908818)_(10085568_?)del	CRELD1, CIDEC +6 more	Deletion	Candidiasis, familial, 9	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 2371580	NM_001077415.3(CRELD1):c.1222C>T (p.Arg408Cys)	CRELD1 (R380C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 2300503	NM_001077415.3(CRELD1):c.1042A>C (p.Ile348Leu)	CRELD1 (I320L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294402	NM_001077415.3(CRELD1):c.938T>C (p.Val313Ala)	CRELD1 (V313A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289442	NM_001077415.3(CRELD1):c.1193C>T (p.Ala398Val)	CRELD1 (A398V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 2171092	NM_001077415.3(CRELD1):c.1048+380G>A	CRELD1 (V352I)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2161832	NM_001077415.3(CRELD1):c.1049-405T>G	CRELD1	Single nucleotide variant (synonymous variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 2043980	NM_001077415.3(CRELD1):c.978C>A (p.Gly326=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GBenign
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 2012520	NM_001077415.3(CRELD1):c.914-9C>T	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 1913184	NM_001077415.3(CRELD1):c.733+9G>A	CRELD1	Single nucleotide variant (intron variant)	CRELD1-related condition +1 more	GLikely benign
Select item 1809978	NM_001077415.3(CRELD1):c.983A>G (p.Tyr328Cys)	CRELD1 (Y300C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807789	GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	BRK1, CIDEC +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	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 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 1686602	NM_001077415.3(CRELD1):c.973G>A (p.Glu325Lys)	CRELD1 (E297K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686601	NM_001077415.3(CRELD1):c.857C>G (p.Pro286Arg)	CRELD1 (P258R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1677863	NM_001077415.3(CRELD1):c.914-2A>C	CRELD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
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 1674496	NM_001077415.3(CRELD1):c.637+20G>A	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GBenign
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 1655660	NM_001077415.3(CRELD1):c.1048+14C>T	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GBenign
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 1615675	NM_001077415.3(CRELD1):c.93C>T (p.Pro31=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 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 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 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 1570626	NM_001077415.3(CRELD1):c.1011G>A (p.Lys337=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	CRELD1-related condition +1 more	GLikely benign
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
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
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 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 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 1484998	NM_001077415.3(CRELD1):c.1049-283C>T	CRELD1 (T410M +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	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 1433113	NM_001077415.3(CRELD1):c.1049-368C>G	CRELD1 (Q382E +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1427379	NM_001077415.3(CRELD1):c.1049-289G>A	CRELD1 (R408H +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	MTMR14, OGG1 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1412574	NC_000003.11:g.(?_9908818)_(10191649_?)dup	BRK1, CIDEC +9 more	Duplication	Candidiasis, familial, 9 +1 more	GUncertain significance
Select item 1408913	NM_001077415.3(CRELD1):c.1049-401C>T	CRELD1 (H375Y +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GUncertain significance
Select item 1397618	NM_001077415.3(CRELD1):c.1000G>A (p.Glu334Lys)	CRELD1 (E306K +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1397145	NM_001077415.3(CRELD1):c.979G>A (p.Gly327Ser)	CRELD1 (G327S +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1328451	GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	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 1311085	NM_001077415.3(CRELD1):c.1090GTG[1] (p.Val365del)	CRELD1 (V337del +1 more)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1308176	NM_001077415.3(CRELD1):c.784T>C (p.Cys262Arg)	CRELD1 (C262R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1307344	NM_001077415.3(CRELD1):c.913+5G>A	CRELD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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

<< First< Prev

Page of 3