ClinVar for MedGen (Select 381193) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3012037	NM_001077415.3(CRELD1):c.1049-346del	CRELD1 (P393fs +1 more)	Deletion (frameshift 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	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 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 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)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
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 1686601	NM_001077415.3(CRELD1):c.857C>G (p.Pro286Arg)	CRELD1 (P258R +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	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)	Atrioventricular septal defect, susceptibility to, 2 +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)	Atrioventricular septal defect, susceptibility to, 2	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 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 +2 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 +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)	not provided +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 1305555	NM_001077415.3(CRELD1):c.699G>C (p.Lys233Asn)	CRELD1 (K233N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1165985	NM_001077415.3(CRELD1):c.659G>A (p.Arg220Gln)	CRELD1 (R220Q)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
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 +1 more	GBenign
Select item 1142884	NM_001077415.3(CRELD1):c.924G>A (p.Glu308=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
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 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 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 1007012	NC_000003.11:g.(?_9976103)_(10191669_?)del	EMC3, FANCD2 +5 more	Deletion	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1002300	NM_001077415.3(CRELD1):c.1049-323G>A	CRELD1 (A397T +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 984431	NM_001077415.3(CRELD1):c.726G>T (p.Lys242Asn)	CRELD1 (K242N)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
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 954306	NM_001077415.3(CRELD1):c.935_936del (p.Glu312fs)	CRELD1 (E284fs +1 more)	Microsatellite (frameshift variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 951797	NM_001077415.3(CRELD1):c.806A>G (p.Tyr269Cys)	CRELD1 (Y269C)	Single nucleotide variant (missense variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
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 861074	NM_001077415.3(CRELD1):c.1048+417_1048+418del	CRELD1 (P360fs +1 more)	Deletion (frameshift variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 849743	NM_001077415.3(CRELD1):c.95C>T (p.Ser32Phe)	CRELD1 (S32F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841606	NM_001077415.3(CRELD1):c.796dup (p.Glu266fs)	CRELD1 (E266fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GUncertain significance
Select item 830761	NC_000003.12:g.(?_9701780)_(9944589_?)dup	ARPC4, ARPC4-TTLL3 +13 more	Duplication	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 700432	NM_001077415.3(CRELD1):c.257+10T>G	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GBenign
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 697196	NM_001077415.3(CRELD1):c.1018G>A (p.Glu340Lys)	CRELD1 (E312K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 643428	NM_001077415.3(CRELD1):c.846G>T (p.Met282Ile)	CRELD1 (M282I +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 633463	NM_001077415.3(CRELD1):c.822_823del (p.Ala275fs)	CRELD1 (A275fs +1 more)	Microsatellite (frameshift variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GLikely pathogenic
Select item 627519	NM_001077415.3(CRELD1):c.1049-376T>G	CRELD1 (M379R +1 more)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot +1 more	GUncertain significance
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 546928	NM_001077415.3(CRELD1):c.959del (p.Gln320fs)	CRELD1 (Q320fs +1 more)	Deletion (frameshift variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 534232	NM_001077415.3(CRELD1):c.1049-352C>T	CRELD1 (T387I +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GBenign/Likely benign
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 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 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 465833	NM_001077415.3(CRELD1):c.1049-299C>G	CRELD1 (Q405E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 465832	NM_001077415.3(CRELD1):c.1048+388T>G	CRELD1	Single nucleotide variant (synonymous variant +1 more)	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 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 414253	NM_001077415.3(CRELD1):c.369-3C>T	CRELD1	Single nucleotide variant (intron variant)	Atrioventricular septal defect, susceptibility to, 2	GLikely benign
Select item 407065	NM_001077415.3(CRELD1):c.1049-364G>C	CRELD1 (R383T +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 407064	NM_001077415.3(CRELD1):c.1049-389A>G	CRELD1 (T375A +1 more)	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)	Atrioventricular septal defect, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
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 197827	NM_001077415.3(CRELD1):c.498C>T (p.Tyr166=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 137034	NM_001077415.3(CRELD1):c.912C>T (p.Leu304=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	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 137031	NM_001077415.3(CRELD1):c.1049-376T>C	CRELD1 (M379T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 137030	NM_001077415.3(CRELD1):c.1049-393C>T	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 137029	NM_001077415.3(CRELD1):c.945G>A (p.Pro315=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3431	NM_001077415.3(CRELD1):c.1240G>A (p.Glu414Lys)	CRELD1 (E414K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Atrioventricular septal defect, susceptibility to, 2	Grisk factor
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 3429	NM_001077415.3(CRELD1):c.320G>A (p.Arg107His)	CRELD1 (R107H)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 3428	NM_001077415.3(CRELD1):c.932C>T (p.Thr311Ile)	CRELD1 (T311I +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GLikely benign
Select item 3427	NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys)	CRELD1 (R329C +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GLikely benign

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Items: 100