ClinVar for MedGen (Select 208647) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 143

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066272	NM_020297.4(ABCC9):c.4512+687C>A	ABCC9 (H1505N)	Single nucleotide variant (missense variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type	GUncertain significance
Select item 2663857	NM_020297.4(ABCC9):c.2954A>C (p.Tyr985Ser)	ABCC9 (Y696S +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GPathogenic
Select item 1803134	NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe)	ABCC9 (L1170F +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 1708157	NM_004982.4(KCNJ8):c.712G>A (p.Gly238Arg)	KCNJ8 (G238R)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 1677655	NM_020297.4(ABCC9):c.4014del (p.Gly1339fs)	ABCC9 (G1050fs +1 more)	Deletion (frameshift variant)	not provided +4 more	GUncertain significance
Select item 1475938	NM_020297.4(ABCC9):c.1147C>T (p.Leu383Phe)	ABCC9 (L95F +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GUncertain significance
Select item 1421599	NM_020297.4(ABCC9):c.1657G>T (p.Ala553Ser)	ABCC9 (A265S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +3 more	GUncertain significance
Select item 1400429	NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)	KCNJ8 (E111G)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +4 more	GUncertain significance
Select item 1399756	NM_020297.4(ABCC9):c.295T>A (p.Ser99Thr)	ABCC9 (S99T)	Single nucleotide variant (missense variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GUncertain significance
Select item 1323823	NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met)	ABCC9 (T1202M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GPathogenic
Select item 1303112	NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys)	ABCC9 (E1021K +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +6 more	GUncertain significance
Select item 1188882	NM_020297.4(ABCC9):c.1011+100dup	ABCC9	Duplication (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GBenign
Select item 1188881	NM_020297.4(ABCC9):c.1012-59T>C	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GBenign
Select item 1188880	NM_020297.4(ABCC9):c.1660-66G>A	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GBenign
Select item 1175176	NM_020297.4(ABCC9):c.3203T>C (p.Leu1068Pro)	ABCC9 (L1068P +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 1163346	NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val)	ABCC9 (I377V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +5 more	GConflicting classifications of pathogenicity
Select item 1035510	NM_020297.4(ABCC9):c.723G>T (p.Lys241Asn)	ABCC9 (K241N)	Single nucleotide variant (missense variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GUncertain significance
Select item 1021093	NM_020297.4(ABCC9):c.4512+824G>C	ABCC9	Single nucleotide variant (stop lost +1 more)	Dilated cardiomyopathy 1O +3 more	GUncertain significance
Select item 1009218	NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser)	ABCC9 (A651S +1 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 12 +4 more	GUncertain significance
Select item 973522	NM_020297.4(ABCC9):c.3190G>C (p.Ala1064Pro)	ABCC9 (A775P +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 973302	NM_020297.4(ABCC9):c.1247T>C (p.Leu416Ser)	ABCC9 (L128S +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GUncertain significance
Select item 962275	NM_020297.4(ABCC9):c.7C>G (p.Leu3Val)	ABCC9 (L3V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability and myopathy syndrome +3 more	GUncertain significance
Select item 950045	NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu)	ABCC9 (P67L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 883399	NM_020297.4(ABCC9):c.1877T>C (p.Leu626Pro)	ABCC9 (L338P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 883308	NM_020297.4(ABCC9):c.4103-14T>C	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GConflicting classifications of pathogenicity
Select item 883307	NM_020297.4(ABCC9):c.4512+693G>T	ABCC9 (V1507F)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 882670	NM_020297.4(ABCC9):c.882G>A (p.Gly294=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 882669	NM_020297.4(ABCC9):c.1008T>C (p.Thr336=)	ABCC9	Single nucleotide variant (synonymous variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GUncertain significance
Select item 882623	NM_020297.4(ABCC9):c.2158G>A (p.Gly720Ser)	ABCC9 (G720S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 882574	NM_020297.4(ABCC9):c.3141T>C (p.Ile1047=)	ABCC9	Single nucleotide variant (synonymous variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GUncertain significance
Select item 880991	NM_020297.4(ABCC9):c.2481T>C (p.Tyr827=)	ABCC9	Single nucleotide variant (synonymous variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GUncertain significance
Select item 856369	NM_020297.4(ABCC9):c.4512+711G>A	ABCC9 (A1513T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 846402	NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile)	ABCC9 (M443I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +5 more	GUncertain significance
Select item 835205	NM_020297.4(ABCC9):c.2863G>A (p.Glu955Lys)	ABCC9 (E955K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +2 more	GUncertain significance
Select item 834481	NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs)	ABCC9 (L610fs +1 more)	Deletion (frameshift variant)	ABCC9-related condition +5 more	GUncertain significance
Select item 806849	NM_020297.4(ABCC9):c.1671C>A (p.Thr557=)	ABCC9	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 12 +4 more	GLikely benign
Select item 806848	NM_020297.4(ABCC9):c.1743G>A (p.Leu581=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +4 more	GConflicting classifications of pathogenicity
Select item 806842	NM_020297.4(ABCC9):c.4189A>G (p.Ile1397Val)	ABCC9 (I1397V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +3 more	GUncertain significance
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 681183	NM_020297.4(ABCC9):c.406+305A>T	ABCC9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 671057	NM_020297.4(ABCC9):c.1912-66G>A	ABCC9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 666318	NM_020297.4(ABCC9):c.1703C>T (p.Pro568Leu)	ABCC9 (P568L +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 582452	NM_020297.4(ABCC9):c.5G>A (p.Ser2Asn)	ABCC9 (S2N)	Single nucleotide variant (missense variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GUncertain significance
Select item 582030	NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)	ABCC9 (S1402C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +4 more	GUncertain significance
Select item 546527	NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile)	ABCC9 (T771I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 546502	NM_020297.4(ABCC9):c.1012-2A>G	ABCC9	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1O +4 more	GUncertain significance
Select item 545440	NM_020297.4(ABCC9):c.3650G>A (p.Arg1217Lys)	ABCC9 (R1217K +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 533291	NM_020297.4(ABCC9):c.1374C>T (p.Val458=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 533282	NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys)	ABCC9 (E953K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 533278	NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp)	ABCC9 (E955D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +4 more	GUncertain significance
Select item 519004	NM_020297.4(ABCC9):c.1455+4A>C	ABCC9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 516448	NM_020297.4(ABCC9):c.3315+17C>T	ABCC9	Single nucleotide variant (intron variant)	Intellectual disability and myopathy syndrome +4 more	GBenign/Likely benign
Select item 514309	NM_020297.4(ABCC9):c.6C>T (p.Ser2=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O +3 more	GConflicting classifications of pathogenicity
Select item 512729	NM_020297.4(ABCC9):c.133T>C (p.Leu45=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 510652	NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=)	ABCC9	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 509347	NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=)	ABCC9	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 12 +5 more	GLikely benign
Select item 464658	NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)	ABCC9 (R660Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +4 more	GUncertain significance
Select item 451662	NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter)	ABCC9 (R694* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GUncertain significance
Select item 410821	NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile)	ABCC9 (V867I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability and myopathy syndrome +4 more	GUncertain significance
Select item 410818	NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys)	ABCC9 (R1197C +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +2 more	GConflicting classifications of pathogenicity
Select item 393177	NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter)	ABCC9 (R824* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 389883	NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His)	ABCC9 (R1197H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 377413	NM_020297.4(ABCC9):c.142+10C>A	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +5 more	GLikely benign
Select item 369679	NM_020297.4(ABCC9):c.878T>C (p.Phe293Ser)	ABCC9 (F293S +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 308049	NM_020297.4(ABCC9):c.75T>C (p.Phe25=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type +2 more	GConflicting classifications of pathogenicity
Select item 308048	NM_020297.4(ABCC9):c.146G>C (p.Trp49Ser)	ABCC9 (W49S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 308047	NM_020297.4(ABCC9):c.366T>C (p.Tyr122=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type +2 more	GConflicting classifications of pathogenicity
Select item 308046	NM_020297.4(ABCC9):c.466T>C (p.Cys156Arg)	ABCC9 (C156R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 308045	NM_020297.4(ABCC9):c.669G>T (p.Leu223=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
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 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 308042	NM_020297.4(ABCC9):c.1165-4del	ABCC9	Deletion (intron variant)	Dilated Cardiomyopathy, Dominant +2 more	GUncertain significance
Select item 308041	NM_020297.4(ABCC9):c.1332C>T (p.Gly444=)	ABCC9	Single nucleotide variant (synonymous variant)	Hypertrichotic osteochondrodysplasia Cantu type +2 more	GConflicting classifications of pathogenicity
Select item 308040	NM_020297.4(ABCC9):c.1659+10T>C	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 308039	NM_020297.4(ABCC9):c.1670C>G (p.Thr557Ser)	ABCC9 (T557S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 308038	NM_020297.4(ABCC9):c.1992C>T (p.Pro664=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 308037	NM_020297.4(ABCC9):c.2238-17del	ABCC9	Deletion (intron variant)	Familial atrial fibrillation +5 more	GBenign/Likely benign
Select item 308036	NM_020297.4(ABCC9):c.2238-16del	ABCC9	Deletion (intron variant)	Dilated Cardiomyopathy, Dominant +2 more	GUncertain significance
Select item 308035	NM_020297.4(ABCC9):c.2769+12T>C	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GUncertain significance
Select item 308034	NM_020297.4(ABCC9):c.3556C>T (p.Arg1186Trp)	ABCC9 (R1186W +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 308033	NM_020297.4(ABCC9):c.3669+10T>C	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GConflicting classifications of pathogenicity
Select item 308032	NM_020297.4(ABCC9):c.4316-14T>G	ABCC9	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +2 more	GUncertain significance
Select item 261217	NM_020297.4(ABCC9):c.406+38A>C	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +2 more	GBenign
Select item 261216	NM_020297.4(ABCC9):c.2769+28A>C	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +2 more	GBenign
Select item 261214	NM_020297.4(ABCC9):c.1660-43C>A	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261213	NM_020297.4(ABCC9):c.1164+23=	ABCC9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 240205	NM_020297.4(ABCC9):c.3316-4A>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +2 more	GConflicting classifications of pathogenicity
Select item 240202	NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala)	ABCC9 (T659A +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +3 more	GUncertain significance
Select item 228426	NM_020297.4(ABCC9):c.4512+765C>T	ABCC9 (P1531S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 201615	NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn)	ABCC9 (D617N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 201611	NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 192108	NM_020297.4(ABCC9):c.4512+746_4512+747insT	ABCC9 (V1525fs)	Insertion (frameshift variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 191589	NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys)	ABCC9 (R661C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 191587	NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala)	ABCC9 (P739A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +4 more	GUncertain significance
Select item 191584	NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile)	ABCC9 (M1198I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O +5 more	GUncertain significance
Select item 191034	NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)	ABCC9 (R660W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 180001	NM_020297.4(ABCC9):c.2199-6T>C	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 179983	NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs)	ABCC9 (S1400fs +1 more)	Duplication (frameshift variant)	not provided +5 more	GUncertain significance
Select item 179833	NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg)	ABCC9 (K132R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance

<< First< Prev

Page of 2