"Clinical Genetics, Academic Medical Center"[submitter] AND "ABCC9"[ge - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379564	NM_020297.4(ABCC9):c.*19T>C	ABCC9	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 178859	NM_020297.4(ABCC9):c.4450-5dup	ABCC9	Duplication (intron variant)	not specified +2 more	GBenign
Select item 695803	NM_020297.4(ABCC9):c.4450-6_4450-5del	ABCC9	Deletion (intron variant)	Intellectual disability and myopathy syndrome +3 more	GBenign/Likely benign
Select item 35634	NM_020297.4(ABCC9):c.4450-5del	ABCC9	Deletion (intron variant)	Primary dilated cardiomyopathy +4 more	GBenign/Likely benign
Select item 45411	NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1284572	NM_020297.4(ABCC9):c.4024-17G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 227163	NM_020297.4(ABCC9):c.3993C>T (p.His1331=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1299884	NM_020297.4(ABCC9):c.3892+1G>A	ABCC9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 35633	NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)	ABCC9	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 227161	NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1174718	NM_020297.4(ABCC9):c.3640G>A (p.Ala1214Thr)	ABCC9 (A1214T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1284714	NM_020297.4(ABCC9):c.3559G>T (p.Ala1187Ser)	ABCC9 (A1187S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 45409	NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)	ABCC9 (V1137I +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 35632	NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=)	ABCC9	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 379777	NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser)	ABCC9 (N1074S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 449748	NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)	ABCC9 (I1024V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 513648	NM_020297.4(ABCC9):c.2867-5T>C	ABCC9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 35631	NM_020297.4(ABCC9):c.2644-11G>A	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GBenign/Likely benign
Select item 977725	NM_020297.4(ABCC9):c.2644-19G>A	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 136250	NM_020297.4(ABCC9):c.2643+17G>C	ABCC9	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 35630	NM_020297.4(ABCC9):c.2631G>A (p.Thr877=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 35628	NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 45405	NM_020297.4(ABCC9):c.2424+9T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +3 more	GBenign/Likely benign
Select item 162688	NM_020297.4(ABCC9):c.2238-1G>A	ABCC9	Single nucleotide variant (intron variant +1 more)	ABCC9-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 35627	NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)	ABCC9 (V734I +1 more)	Single nucleotide variant (missense variant)	Myocardial infarction +6 more	GConflicting classifications of pathogenicity
Select item 45402	NM_020297.4(ABCC9):c.2199-11=	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 45397	NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)	ABCC9 (G684S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1284737	NM_020297.4(ABCC9):c.2020-6T>C	ABCC9	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 45392	NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)	ABCC9 (E629D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +6 more	GConflicting classifications of pathogenicity
Select item 1284358	NM_020297.4(ABCC9):c.1803-18G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 45390	NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 45388	NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 533292	NM_020297.4(ABCC9):c.1416T>C (p.Phe472=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 45386	NM_020297.4(ABCC9):c.1296= (p.Pro432=)	ABCC9	Single nucleotide variant (no sequence alteration)	not specified +4 more	GBenign
Select item 308043	NM_020297.4(ABCC9):c.1165-7_1165-6del	ABCC9	Deletion (intron variant)	Dilated Cardiomyopathy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 45384	NM_020297.4(ABCC9):c.1164+11=	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 45380	NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=)	ABCC9	Single nucleotide variant (synonymous variant)	ABCC9-related condition +3 more	GBenign
Select item 308044	NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln)	ABCC9 (R281Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +2 more	GUncertain significance
Select item 45422	NM_020297.4(ABCC9):c.817-7del	ABCC9	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 918160	NM_020297.4(ABCC9):c.817-18dup	ABCC9	Duplication (intron variant)	not specified +1 more	GBenign
Select item 928912	NM_020297.4(ABCC9):c.817-18del	ABCC9	Deletion (intron variant)	Dilated cardiomyopathy 1O +2 more	GBenign/Likely benign
Select item 35635	NM_020297.4(ABCC9):c.789C>T (p.Cys263=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type +5 more	GBenign/Likely benign
Select item 45419	NM_020297.4(ABCC9):c.574-5C>A	ABCC9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 45412	NM_020297.4(ABCC9):c.407-14C>A	ABCC9	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 201610	NM_020297.4(ABCC9):c.285-16G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +2 more	GBenign
Select item 162698	NM_020297.4(ABCC9):c.142+15dup	ABCC9	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign

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Items: 46