"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 856369	NM_020297.4(ABCC9):c.4512+711G>A	ABCC9, KCNJ8-AS1 (A1513T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +5 more	GConflicting classifications of pathogenicity
Select item 510223	NM_020297.4(ABCC9):c.4512+7A>G	ABCC9, KCNJ8-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +1 more	GLikely benign
Select item 35634	NM_020297.4(ABCC9):c.4450-5del	ABCC9, KCNJ8-AS1	Deletion (intron variant)	Dilated cardiomyopathy 1O +4 more	GBenign/Likely benign
Select item 45411	NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 35633	NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1284931	NM_020297.4(ABCC9):c.3492C>T (p.Asp1164=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 31947	NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)	ABCC9 (R1154Q +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GPathogenic
Select item 31946	NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9 (R1154W +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +18 more	GPathogenic/Likely pathogenic
Select item 45409	NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)	ABCC9 (V1137I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 35534	NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)	ABCC9 (R1116C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 416405	NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +2 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)	not provided +2 more	GUncertain significance
Select item 35631	NM_020297.4(ABCC9):c.2644-11G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +3 more	GBenign/Likely benign
Select item 35628	NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 967398	NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val)	ABCC9 (A536V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 45405	NM_020297.4(ABCC9):c.2424+9T>C	ABCC9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1174865	NM_020297.4(ABCC9):c.2324C>A (p.Pro775His)	ABCC9 (P486H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 35627	NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)	ABCC9 (V734I +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 45402	NM_020297.4(ABCC9):c.2199-11=	ABCC9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 45399	NM_020297.4(ABCC9):c.2093-7T>C	ABCC9	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 45397	NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)	ABCC9 (G684S +1 more)	Single nucleotide variant (missense variant)	not specified +6 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 45388	NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +4 more	GConflicting classifications of pathogenicity
Select item 533292	NM_020297.4(ABCC9):c.1416T>C (p.Phe472=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +1 more	GLikely benign
Select item 45386	NM_020297.4(ABCC9):c.1296= (p.Pro432=)	ABCC9	Single nucleotide variant (no sequence alteration)	Cardiomyopathy +5 more	GBenign
Select item 45385	NM_020297.4(ABCC9):c.1165-6dup	ABCC9	Duplication (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 308043	NM_020297.4(ABCC9):c.1165-7_1165-6del	ABCC9	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 35626	NM_020297.4(ABCC9):c.1165-6del	ABCC9	Deletion (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 261213	NM_020297.4(ABCC9):c.1164+23=	ABCC9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 45384	NM_020297.4(ABCC9):c.1164+11=	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GBenign
Select item 1285172	NM_020297.4(ABCC9):c.1137T>C (p.Thr379=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 45424	NM_020297.4(ABCC9):c.924T>C (p.Asp308=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +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 +3 more	GUncertain significance
Select item 45422	NM_020297.4(ABCC9):c.817-7del	ABCC9	Deletion (intron variant)	Dilated cardiomyopathy 1O +3 more	GBenign/Likely benign
Select item 918160	NM_020297.4(ABCC9):c.817-18dup	ABCC9	Duplication (intron variant)	Dilated cardiomyopathy 1O +1 more	GBenign
Select item 928912	NM_020297.4(ABCC9):c.817-18del	ABCC9	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 45419	NM_020297.4(ABCC9):c.574-5C>A	ABCC9	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 45412	NM_020297.4(ABCC9):c.407-14C>A	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +4 more	GConflicting classifications of pathogenicity
Select item 45410	NM_020297.4(ABCC9):c.372T>C (p.Asn124=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	not specified +5 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

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Items: 41