"GeneDx"[submitter] AND "ABCC9"[gene] - ClinVar - NCBI

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	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 1189888	NM_020297.4(ABCC9):c.*7G>A	ABCC9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 682239	NM_020297.4(ABCC9):c.4638C>T (p.Arg1546=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1305624	NM_020297.4(ABCC9):c.4630T>G (p.Phe1544Val)	ABCC9 (F1255V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504478	NM_020297.4(ABCC9):c.4628C>G (p.Ser1543Cys)	ABCC9 (S1254C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1218182	NM_020297.4(ABCC9):c.4536G>A (p.Thr1512=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 681259	NM_020297.4(ABCC9):c.4512+1094A>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 658269	NM_020297.4(ABCC9):c.4512+805T>C	ABCC9 (L1544S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1741831	NM_020297.4(ABCC9):c.4512+777_4512+778delinsAA	ABCC9 (A1535N)	Indel (missense variant +1 more)	Dilated cardiomyopathy 1O +2 more	GUncertain significance
Select item 197035	NM_020297.4(ABCC9):c.4512+777G>A	ABCC9 (A1535T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +5 more	GConflicting classifications of pathogenicity
Select item 228426	NM_020297.4(ABCC9):c.4512+765C>T	ABCC9 (P1531S)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 222477	NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT	ABCC9 (L1524fs)	Indel (frameshift variant +1 more)	not provided +5 more	GUncertain significance
Select item 856369	NM_020297.4(ABCC9):c.4512+711G>A	ABCC9 (A1513T)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 672441	NM_020297.4(ABCC9):c.4512+533C>G	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211770	NM_020297.4(ABCC9):c.4512+296A>G	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377416	NM_020297.4(ABCC9):c.4512+16C>T	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 510223	NM_020297.4(ABCC9):c.4512+7A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +1 more	GLikely benign
Select item 1204072	NM_020297.4(ABCC9):c.4512+1G>A	ABCC9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 506551	NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 432864	NM_020297.4(ABCC9):c.4492C>T (p.Arg1498Trp)	ABCC9 (R1498W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 672440	NM_020297.4(ABCC9):c.4449+204C>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 45415	NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 384013	NM_020297.4(ABCC9):c.4407T>G (p.Ile1469Met)	ABCC9 (I1469M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 676414	NM_020297.4(ABCC9):c.4389T>C (p.Phe1463=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 506805	NM_020297.4(ABCC9):c.4366C>T (p.Leu1456=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 377415	NM_020297.4(ABCC9):c.4344T>C (p.Asn1448=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 514743	NM_020297.4(ABCC9):c.4332A>G (p.Glu1444=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1310426	NM_020297.4(ABCC9):c.4330G>C (p.Glu1444Gln)	ABCC9 (E1155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511354	NM_020297.4(ABCC9):c.4320G>A (p.Ala1440=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3377845	NM_020297.4(ABCC9):c.4319C>T (p.Ala1440Val)	ABCC9 (A1151V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223585	NM_020297.4(ABCC9):c.4316-159G>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506550	NM_020297.4(ABCC9):c.4315+11T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +1 more	GBenign/Likely benign
Select item 971230	NM_020297.4(ABCC9):c.4231T>C (p.Cys1411Arg)	ABCC9 (C1411R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 672439	NM_020297.4(ABCC9):c.4212-129G>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272311	NM_020297.4(ABCC9):c.4212-285T>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195854	NM_020297.4(ABCC9):c.4211+252C>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675789	NM_020297.4(ABCC9):c.4211+123A>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511571	NM_020297.4(ABCC9):c.4211+10A>G	ABCC9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 179983	NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs)	ABCC9 (S1400fs +1 more)	Duplication (frameshift variant)	Intellectual disability and myopathy syndrome +5 more	GUncertain significance
Select item 389885	NM_020297.4(ABCC9):c.4188A>G (p.Pro1396=)	ABCC9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 180252	NM_020297.4(ABCC9):c.4157G>A (p.Arg1386His)	ABCC9 (R1386H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3343173	NM_020297.4(ABCC9):c.4109T>A (p.Ile1370Asn)	ABCC9 (I1081N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 672438	NM_020297.4(ABCC9):c.4103-79A>G	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260331	NM_020297.4(ABCC9):c.4103-346C>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197796	NM_020297.4(ABCC9):c.4102+295del	ABCC9	Deletion (intron variant)	not provided	GLikely benign
Select item 1237896	NM_020297.4(ABCC9):c.4102+55del	ABCC9	Deletion (intron variant)	not provided	GBenign
Select item 514160	NM_020297.4(ABCC9):c.4102+17A>T	ABCC9	Single nucleotide variant (intron variant)	not specified	GLikely 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 671342	NM_020297.4(ABCC9):c.4023+327A>G	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194253	NM_020297.4(ABCC9):c.4023+323C>A	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200204	NM_020297.4(ABCC9):c.4023+44del	ABCC9	Deletion (intron variant)	not provided	GLikely benign
Select item 1307266	NM_020297.4(ABCC9):c.4018C>G (p.Gln1340Glu)	ABCC9 (Q1051E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444562	NM_020297.4(ABCC9):c.4006A>C (p.Ile1336Leu)	ABCC9 (I1047L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308966	NM_020297.4(ABCC9):c.3956T>C (p.Val1319Ala)	ABCC9 (V1030A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340617	NM_020297.4(ABCC9):c.3940A>G (p.Ile1314Val)	ABCC9 (I1025V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710732	NM_020297.4(ABCC9):c.3931G>C (p.Glu1311Gln)	ABCC9 (E1022Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310519	NM_020297.4(ABCC9):c.3912A>C (p.Glu1304Asp)	ABCC9 (E1015D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201621	NM_020297.4(ABCC9):c.3896C>T (p.Pro1299Leu)	ABCC9 (P1299L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290856	NM_020297.4(ABCC9):c.3893-149A>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238502	NM_020297.4(ABCC9):c.3893-164A>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203599	NM_020297.4(ABCC9):c.3893-295G>A	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218715	NM_020297.4(ABCC9):c.3893-303T>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679605	NM_020297.4(ABCC9):c.3892+224C>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673827	NM_020297.4(ABCC9):c.3892+102G>A	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420358	NM_020297.4(ABCC9):c.3841_3842delinsGT (p.Lys1281Val)	ABCC9 (K1281V +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2500651	NM_020297.4(ABCC9):c.3838_3841delinsGTTTCCTGCACCAGATGGGTGC (p.Lys1280_Lys1281delinsValSerCysThrArgTrpValGln)	ABCC9	Indel (inframe_indel)	not provided	GUncertain significance
Select item 392766	NM_020297.4(ABCC9):c.3831T>A (p.Gly1277=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 388487	NM_020297.4(ABCC9):c.3814C>G (p.Leu1272Val)	ABCC9 (L1272V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 464667	NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met)	ABCC9 (V1266M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 201613	NM_020297.4(ABCC9):c.3783T>A (p.Tyr1261Ter)	ABCC9 (Y1261* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 506881	NM_020297.4(ABCC9):c.3772-16T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +1 more	GLikely benign
Select item 675788	NM_020297.4(ABCC9):c.3772-65C>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213160	NM_020297.4(ABCC9):c.3772-239G>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679825	NM_020297.4(ABCC9):c.3772-250T>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284109	NM_020297.4(ABCC9):c.3771+228G>A	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 35633	NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +4 more	GConflicting classifications of pathogenicity
Select item 1303878	NM_020297.4(ABCC9):c.3757C>G (p.Leu1253Val)	ABCC9 (L1253V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 1700731	NM_020297.4(ABCC9):c.3749T>C (p.Leu1250Ser)	ABCC9 (L1250S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385793	NM_020297.4(ABCC9):c.3739T>C (p.Leu1247=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +1 more	GLikely benign
Select item 227161	NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 546486	NM_020297.4(ABCC9):c.3698C>T (p.Thr1233Ile)	ABCC9 (T1233I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1237115	NM_020297.4(ABCC9):c.3670-12G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +1 more	GBenign
Select item 1203230	NM_020297.4(ABCC9):c.3670-32A>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675740	NM_020297.4(ABCC9):c.3670-94G>T	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219561	NM_020297.4(ABCC9):c.3670-231GATATA[5]	ABCC9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1255302	NM_020297.4(ABCC9):c.3670-231GATATA[3]	ABCC9	Microsatellite (intron variant)	not provided	GBenign
Select item 1229720	NM_020297.4(ABCC9):c.3670-231_3670-228del	ABCC9	Microsatellite (intron variant)	not provided	GBenign
Select item 1217101	NM_020297.4(ABCC9):c.3670-281_3670-274del	ABCC9	Deletion (intron variant)	not provided	GLikely benign
Select item 1242167	NM_020297.4(ABCC9):c.3670-311CA[19]	ABCC9	Microsatellite (intron variant)	not provided	GBenign
Select item 1225566	NM_020297.4(ABCC9):c.3670-311CA[21]	ABCC9	Microsatellite (intron variant)	not provided	GBenign
Select item 1213398	NM_020297.4(ABCC9):c.3670-311CA[20]	ABCC9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1288777	NM_020297.4(ABCC9):c.3670-311CA[17]	ABCC9	Microsatellite (intron variant)	not provided	GBenign
Select item 1288260	NM_020297.4(ABCC9):c.3670-311CA[16]	ABCC9	Microsatellite (intron variant)	not provided	GBenign
Select item 1198674	NM_020297.4(ABCC9):c.3670-311CA[15]	ABCC9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 512890	NM_020297.4(ABCC9):c.3669+7T>A	ABCC9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 997882	NM_020297.4(ABCC9):c.3669+4C>T	ABCC9	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 177999	NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +6 more	GConflicting classifications of pathogenicity
Select item 420904	NM_020297.4(ABCC9):c.3656T>G (p.Leu1219Arg)	ABCC9 (L1219R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1311622	NM_020297.4(ABCC9):c.3644C>A (p.Ala1215Asp)	ABCC9 (A1215D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 420903	NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala)	ABCC9 (S1213A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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