ClinVar for MedGen (Select 381193) - ClinVar

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Items: 85

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24405601.	NM_001077415.3(CRELD1):c.430C>G (p.Pro144Ala) GRCh37: Chr3:9979760 GRCh38: Chr3:9938076	CRELD1	P144A	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 24405592.	NM_001077415.3(CRELD1):c.874T>C (p.Cys292Arg) GRCh37: Chr3:9984817 GRCh38: Chr3:9943133	CRELD1	C264R, C292R	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 24405583.	NM_001077415.3(CRELD1):c.913G>A (p.Asp305Asn) GRCh37: Chr3:9984856 GRCh38: Chr3:9943172	CRELD1	D277N, D305N	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 14, 2019)	criteria provided, single submitter
Select item 21941554.	NM_001077415.3(CRELD1):c.611G>A (p.Arg204His) GRCh37: Chr3:9982684 GRCh38: Chr3:9941000	CRELD1	R204H	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 21877805.	NM_001077415.3(CRELD1):c.432C>T (p.Pro144=) GRCh37: Chr3:9979762 GRCh38: Chr3:9938078	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 21710926.	NM_001077415.3(CRELD1):c.1048+380G>A GRCh37: Chr3:9985579 GRCh38: Chr3:9943895	CRELD1	V352I	Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 21618327.	NM_001077415.3(CRELD1):c.1049-405T>G GRCh37: Chr3:9985644 GRCh38: Chr3:9943960	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 20439808.	NM_001077415.3(CRELD1):c.978C>A (p.Gly326=) GRCh37: Chr3:9985129 GRCh38: Chr3:9943445	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 20408179.	NM_001077415.3(CRELD1):c.258-7C>T GRCh37: Chr3:9979239 GRCh38: Chr3:9937555	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 201252010.	NM_001077415.3(CRELD1):c.914-9C>T GRCh37: Chr3:9985056 GRCh38: Chr3:9943372	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Apr 29, 2019)	criteria provided, single submitter
Select item 191318411.	NM_001077415.3(CRELD1):c.733+9G>A GRCh37: Chr3:9982899 GRCh38: Chr3:9941215	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 169894112.	NM_001077415.3(CRELD1):c.565G>A (p.Gly189Ser) GRCh37: Chr3:9982638 GRCh38: Chr3:9940954	CRELD1	G189S	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 168660113.	NM_001077415.3(CRELD1):c.857C>G (p.Pro286Arg) GRCh37: Chr3:9984800 GRCh38: Chr3:9943116	CRELD1	P258R, P286R	Atrioventricular septal defect, susceptibility to, 2, not specified	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167449614.	NM_001077415.3(CRELD1):c.637+20G>A GRCh37: Chr3:9982730 GRCh38: Chr3:9941046	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign (Jul 5, 2022)	criteria provided, single submitter
Select item 166201215.	NM_001077415.3(CRELD1):c.600T>C (p.Phe200=) GRCh37: Chr3:9982673 GRCh38: Chr3:9940989	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jun 25, 2021)	criteria provided, single submitter
Select item 165566016.	NM_001077415.3(CRELD1):c.1048+14C>T GRCh37: Chr3:9985213 GRCh38: Chr3:9943529	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign (Jun 10, 2022)	criteria provided, single submitter
Select item 161571817.	NM_001077415.3(CRELD1):c.175-19A>G GRCh37: Chr3:9976500 GRCh38: Chr3:9934816	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Apr 11, 2021)	criteria provided, single submitter
Select item 161567518.	NM_001077415.3(CRELD1):c.93C>T (p.Pro31=) GRCh37: Chr3:9976215 GRCh38: Chr3:9934531	CRELD1		not provided, Atrioventricular septal defect, susceptibility to, 2	Benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160695019.	NM_001077415.3(CRELD1):c.66C>T (p.Asn22=) GRCh37: Chr3:9976188 GRCh38: Chr3:9934504	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 160565220.	NM_001077415.3(CRELD1):c.258-13C>A GRCh37: Chr3:9979233 GRCh38: Chr3:9937549	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157597421.	NM_001077415.3(CRELD1):c.390C>G (p.Leu130=) GRCh37: Chr3:9979720 GRCh38: Chr3:9938036	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 157100722.	NM_001077415.3(CRELD1):c.368+7G>A GRCh37: Chr3:9979363 GRCh38: Chr3:9937679	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 157062623.	NM_001077415.3(CRELD1):c.1011G>A (p.Lys337=) GRCh37: Chr3:9985162 GRCh38: Chr3:9943478	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 155979924.	NM_001077415.3(CRELD1):c.712C>T (p.Leu238=) GRCh37: Chr3:9982869 GRCh38: Chr3:9941185	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Feb 3, 2021)	criteria provided, single submitter
Select item 152215125.	NM_001077415.3(CRELD1):c.566del (p.Gly189fs) GRCh37: Chr3:9982635 GRCh38: Chr3:9940951	CRELD1	G189fs	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Nov 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151852426.	NM_001077415.3(CRELD1):c.80T>G (p.Ile27Ser) GRCh37: Chr3:9976202 GRCh38: Chr3:9934518	CRELD1	I27S	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 149999227.	NM_001077415.3(CRELD1):c.613A>G (p.Asn205Asp) GRCh37: Chr3:9982686 GRCh38: Chr3:9941002	CRELD1	N205D	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 148499828.	NM_001077415.3(CRELD1):c.1049-283C>T GRCh37: Chr3:9985766 GRCh38: Chr3:9944082	CRELD1	T410M, T414M	Atrioventricular septal defect, susceptibility to, 2, CRELD1-related condition	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148045429.	NM_001077415.3(CRELD1):c.562G>A (p.Gly188Arg) GRCh37: Chr3:9982635 GRCh38: Chr3:9940951	CRELD1	G188R	Inborn genetic diseases, Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Mar 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143311330.	NM_001077415.3(CRELD1):c.1049-368C>G GRCh37: Chr3:9985681 GRCh38: Chr3:9943997	CRELD1	Q382E, Q386E	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 142737931.	NM_001077415.3(CRELD1):c.1049-289G>A GRCh37: Chr3:9985760 GRCh38: Chr3:9944076	CRELD1	R408H, R412H	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 21, 2021)	criteria provided, single submitter
Select item 140891332.	NM_001077415.3(CRELD1):c.1049-401C>T GRCh37: Chr3:9985648 GRCh38: Chr3:9943964	CRELD1	H375Y, H371Y	not provided, Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jan 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139761833.	NM_001077415.3(CRELD1):c.1000G>A (p.Glu334Lys) GRCh37: Chr3:9985151 GRCh38: Chr3:9943467	CRELD1	E306K, E334K	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Nov 14, 2021)	criteria provided, single submitter
Select item 139714534.	NM_001077415.3(CRELD1):c.979G>A (p.Gly327Ser) GRCh37: Chr3:9985130 GRCh38: Chr3:9943446	CRELD1	G327S, G299S	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 137339035.	NC_000003.11:g.(?_7782024)_(11078652_?)dup GRCh37: Chr3:7782024-11078652	ARPC4, ARPC4-TTLL3, ATP2B2, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00312, LMCD1, MTMR14, OGG1, OXTR, PRRT3, RAD18, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A11, SRGAP3, SSUH2, TADA3, TATDN2, THUMPD3, TTLL3, VHL		Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 130555536.	NM_001077415.3(CRELD1):c.699G>C (p.Lys233Asn) GRCh37: Chr3:9982856 GRCh38: Chr3:9941172	CRELD1	K233N	Atrioventricular septal defect, susceptibility to, 2, not provided	Conflicting interpretations of pathogenicity (Jan 21, 2021)	criteria provided, conflicting interpretations
Select item 116598537.	NM_001077415.3(CRELD1):c.659G>A (p.Arg220Gln) GRCh37: Chr3:9982816 GRCh38: Chr3:9941132	CRELD1	R220Q	Inborn genetic diseases, not provided, Atrioventricular septal defect, susceptibility to, 2	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 116410038.	NM_001077415.3(CRELD1):c.37A>G (p.Met13Val) GRCh37: Chr3:9976159 GRCh38: Chr3:9934475	CRELD1	M13V	Atrioventricular septal defect, susceptibility to, 2	Benign (Nov 4, 2022)	criteria provided, single submitter
Select item 114288439.	NM_001077415.3(CRELD1):c.924G>A (p.Glu308=) GRCh37: Chr3:9985075 GRCh38: Chr3:9943391	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 112683640.	NM_001077415.3(CRELD1):c.441C>T (p.Thr147=) GRCh37: Chr3:9979771 GRCh38: Chr3:9938087	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Aug 19, 2020)	criteria provided, single submitter
Select item 108739741.	NM_001077415.3(CRELD1):c.288T>C (p.Gly96=) GRCh37: Chr3:9979276 GRCh38: Chr3:9937592	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 108179942.	NM_001077415.3(CRELD1):c.456C>T (p.Cys152=) GRCh37: Chr3:9979786 GRCh38: Chr3:9938102	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jul 6, 2019)	criteria provided, single submitter
Select item 100701243.	NC_000003.11:g.(?_9976103)_(10191669_?)del GRCh37: Chr3:9976103-10191669	FANCD2OS, FANCD2, PRRT3, BRK1, CRELD1, EMC3, VHL		Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 100230044.	NM_001077415.3(CRELD1):c.1049-323G>A GRCh37: Chr3:9985726 GRCh38: Chr3:9944042	CRELD1	A397T, A401T	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 98443145.	NM_001077415.3(CRELD1):c.726G>T (p.Lys242Asn) GRCh37: Chr3:9982883 GRCh38: Chr3:9941199	CRELD1	K242N	Atrioventricular septal defect, susceptibility to, 2, CRELD1-related condition	Uncertain significance (Oct 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95632046.	NM_001077415.3(CRELD1):c.460C>T (p.Pro154Ser) GRCh37: Chr3:9979790 GRCh38: Chr3:9938106	CRELD1	P154S	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 95430647.	NM_001077415.3(CRELD1):c.935_936del (p.Glu312fs) GRCh37: Chr3:9985084-9985085 GRCh38: Chr3:9943400-9943401	CRELD1	E284fs, E312fs	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Sep 25, 2019)	criteria provided, single submitter
Select item 95179748.	NM_001077415.3(CRELD1):c.806A>G (p.Tyr269Cys) GRCh37: Chr3:9984569 GRCh38: Chr3:9942885	CRELD1	Y269C	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jun 3, 2019)	criteria provided, single submitter
Select item 93082249.	NM_001077415.3(CRELD1):c.658C>T (p.Arg220Ter) GRCh37: Chr3:9982815 GRCh38: Chr3:9941131	CRELD1	R220*	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Dec 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 86107450.	NM_001077415.3(CRELD1):c.1048+417_1048+418del GRCh37: Chr3:9985616-9985617 GRCh38: Chr3:9943932-9943933	CRELD1	P360fs, P364fs	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Apr 2, 2019)	criteria provided, single submitter
Select item 84974351.	NM_001077415.3(CRELD1):c.95C>T (p.Ser32Phe) GRCh37: Chr3:9976217 GRCh38: Chr3:9934533	CRELD1	S32F	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 84160652.	NM_001077415.3(CRELD1):c.796dup (p.Glu266fs) GRCh37: Chr3:9984558-9984559 GRCh38: Chr3:9942874-9942875	CRELD1	E266fs	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83076153.	NC_000003.12:g.(?_9701780)_(9944589_?)dup GRCh37: Chr3:9743464-9986273	ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, IL17RC, IL17RE, JAGN1, MTMR14, OGG1, RPUSD3, TADA3, TTLL3		Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Sep 25, 2019)	criteria provided, single submitter
Select item 73077654.	NM_001077415.3(CRELD1):c.666A>G (p.Ser222=) GRCh37: Chr3:9982823 GRCh38: Chr3:9941139	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 70043255.	NM_001077415.3(CRELD1):c.257+10T>G GRCh37: Chr3:9976611 GRCh38: Chr3:9934927	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Benign (Jan 11, 2022)	criteria provided, single submitter
Select item 69719656.	NM_001077415.3(CRELD1):c.1018G>A (p.Glu340Lys) GRCh37: Chr3:9985169 GRCh38: Chr3:9943485	CRELD1	E312K, E340K	Atrioventricular septal defect, susceptibility to, 2, not provided	Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64790357.	NM_001077415.3(CRELD1):c.635C>T (p.Ser212Leu) GRCh37: Chr3:9982708 GRCh38: Chr3:9941024	CRELD1	S212L	Inborn genetic diseases, Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64342858.	NM_001077415.3(CRELD1):c.846G>T (p.Met282Ile) GRCh37: Chr3:9984789 GRCh38: Chr3:9943105	CRELD1	M282I, M254I	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 63346359.	NM_001077415.3(CRELD1):c.822_823del (p.Ala275fs) GRCh37: Chr3:9984763-9984764 GRCh38: Chr3:9943079-9943080	CRELD1	A275fs, A247fs	Atrioventricular septal defect, susceptibility to, 2	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 62751960.	NM_001077415.3(CRELD1):c.1049-376T>G GRCh37: Chr3:9985673 GRCh38: Chr3:9943989	CRELD1	M379R, M383R	Tetralogy of Fallot, Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (May 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62420561.	NM_001077415.3(CRELD1):c.264C>T (p.Thr88=) GRCh37: Chr3:9979252 GRCh38: Chr3:9937568	CRELD1		Atrioventricular septal defect, susceptibility to, 2, not provided	Likely benign (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54692862.	NM_001077415.3(CRELD1):c.959del (p.Gln320fs) GRCh37: Chr3:9985110 GRCh38: Chr3:9943426	CRELD1	Q320fs, Q292fs	not provided, Atrioventricular septal defect, susceptibility to, 2, CRELD1-related condition	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 53423263.	NM_001077415.3(CRELD1):c.1049-352C>T GRCh37: Chr3:9985697 GRCh38: Chr3:9944013	CRELD1	T387I, T391I	not provided, Atrioventricular septal defect, susceptibility to, 2	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53423164.	NM_001077415.3(CRELD1):c.524G>A (p.Arg175Gln) GRCh37: Chr3:9982597 GRCh38: Chr3:9940913	CRELD1	R175Q	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 46583565.	NM_001077415.3(CRELD1):c.523C>T (p.Arg175Ter) GRCh37: Chr3:9982596 GRCh38: Chr3:9940912	CRELD1	R175*	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Jul 22, 2017)	criteria provided, single submitter
Select item 46583466.	NM_001077415.3(CRELD1):c.266G>A (p.Arg89His) GRCh37: Chr3:9979254 GRCh38: Chr3:9937570	CRELD1	R89H	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 46583367.	NM_001077415.3(CRELD1):c.1049-299C>G GRCh37: Chr3:9985750 GRCh38: Chr3:9944066	CRELD1	Q405E, Q409E	not provided, Atrioventricular septal defect, susceptibility to, 2	Benign/Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 46583268.	NM_001077415.3(CRELD1):c.1048+388T>G GRCh37: Chr3:9985587 GRCh38: Chr3:9943903	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Feb 19, 2017)	criteria provided, single submitter
Select item 41425469.	NM_001077415.3(CRELD1):c.616G>A (p.Ala206Thr) GRCh37: Chr3:9982689 GRCh38: Chr3:9941005	CRELD1	A206T	Atrioventricular septal defect, susceptibility to, 2	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 41425370.	NM_001077415.3(CRELD1):c.369-3C>T GRCh37: Chr3:9979696 GRCh38: Chr3:9938012	CRELD1		Atrioventricular septal defect, susceptibility to, 2	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 40706571.	NM_001077415.3(CRELD1):c.1049-364G>C GRCh37: Chr3:9985685 GRCh38: Chr3:9944001	CRELD1	R383T, R387T	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 40706472.	NM_001077415.3(CRELD1):c.1049-389A>G GRCh37: Chr3:9985660 GRCh38: Chr3:9943976	CRELD1	T375A, T379A	Atrioventricular septal defect, susceptibility to, 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 23821873.	NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) GRCh37: Chr3:9982648 GRCh38: Chr3:9940964	CRELD1	C192Y	Atrioventricular septal defect, susceptibility to, 2, CRELD1-related condition, not provided	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23821774.	NM_001077415.3(CRELD1):c.383C>G (p.Pro128Arg) GRCh37: Chr3:9979713 GRCh38: Chr3:9938029	CRELD1	P128R	Atrioventricular septal defect, susceptibility to, 2	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 19782775.	NM_001077415.3(CRELD1):c.498C>T (p.Tyr166=) GRCh37: Chr3:9982571 GRCh38: Chr3:9940887	CRELD1		not specified, Atrioventricular septal defect, susceptibility to, 2	Benign/Likely benign (Apr 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13703476.	NM_001077415.3(CRELD1):c.912C>T (p.Leu304=) GRCh37: Chr3:9984855 GRCh38: Chr3:9943171	CRELD1		not specified, Atrioventricular septal defect, susceptibility to, 2	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13703377.	NM_001077415.3(CRELD1):c.37= (p.Met13=) GRCh37: Chr3:9976159 GRCh38: Chr3:9934475	CRELD1		not specified, Atrioventricular septal defect, susceptibility to, 2	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13703178.	NM_001077415.3(CRELD1):c.1049-376T>C GRCh37: Chr3:9985673 GRCh38: Chr3:9943989	CRELD1	M379T, M383T	not specified, Atrioventricular septal defect, susceptibility to, 2	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13703079.	NM_001077415.3(CRELD1):c.1049-393C>T GRCh37: Chr3:9985656 GRCh38: Chr3:9943972	CRELD1		not specified, Atrioventricular septal defect, susceptibility to, 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13702980.	NM_001077415.3(CRELD1):c.945G>A (p.Pro315=) GRCh37: Chr3:9985096 GRCh38: Chr3:9943412	CRELD1		not specified, Atrioventricular septal defect, susceptibility to, 2	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 343181.	NM_001077415.3(CRELD1):c.1240G>A (p.Glu414Lys) GRCh37: Chr3:9986240 GRCh38: Chr3:9944556	CRELD1	E414K, E386K	Atrioventricular septal defect, susceptibility to, 2	risk factor (Oct 5, 2012)	no assertion criteria provided
Select item 343082.	NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala) GRCh37: Chr3:9982557 GRCh38: Chr3:9940873	CRELD1	P162A	Atrioventricular septal defect, susceptibility to, 2	risk factor (Jun 1, 2005)	no assertion criteria provided
Select item 342983.	NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) GRCh37: Chr3:9979308 GRCh38: Chr3:9937624	CRELD1	R107H	not provided, Atrioventricular septal defect, susceptibility to, 2	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 342884.	NM_001077415.3(CRELD1):c.932C>T (p.Thr311Ile) GRCh37: Chr3:9985083 GRCh38: Chr3:9943399	CRELD1	T311I, T283I	not provided, Atrioventricular septal defect, susceptibility to, 2	Likely benign (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 342785.	NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys) GRCh37: Chr3:9985136 GRCh38: Chr3:9943452	CRELD1	R329C, R301C	not provided, Atrioventricular septal defect, susceptibility to, 2	Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 85