ClinVar for MedGen (Select 370583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675738	NM_001079802.2(FKTN):c.1044+2T>A	FKTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675737	NM_001079802.2(FKTN):c.370-1G>C	FKTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675736	NM_001079802.2(FKTN):c.989_991delinsTAATC (p.Asp330fs)	FKTN (D198fs +2 more)	Indel (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675734	NM_001079802.2(FKTN):c.348dup (p.Tyr117fs)	FKTN (Y117fs +1 more)	Duplication (frameshift variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675733	NM_001079802.2(FKTN):c.914_925delinsTATTCCTAATA (p.Trp305fs)	FKTN (W173fs +2 more)	Indel (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675732	NM_001079802.2(FKTN):c.21del (p.Asn7fs)	FKTN (N7fs)	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675731	NM_001079802.2(FKTN):c.910+1G>C	FKTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1X +1 more	GPathogenic/Likely pathogenic
Select item 2675730	NM_001079802.2(FKTN):c.38T>A (p.Leu13Ter)	FKTN (L13*)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675729	NM_001079802.2(FKTN):c.1225_1236delinsT (p.Val409fs)	FKTN (V277fs +2 more)	Indel (frameshift variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675727	NM_001079802.2(FKTN):c.166-1G>A	FKTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1X +1 more	GLikely pathogenic
Select item 2675726	NM_001079802.2(FKTN):c.219del (p.Ile75fs)	FKTN (I52fs +1 more)	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675725	NM_001079802.2(FKTN):c.998T>G (p.Leu333Ter)	FKTN (L201* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675724	NM_001079802.2(FKTN):c.1045-1G>T	FKTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675722	NM_001079802.2(FKTN):c.60dup (p.Leu21fs)	FKTN (L21fs)	Duplication (frameshift variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675721	NM_001079802.2(FKTN):c.530_546del (p.His177fs)	FKTN (H154fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675720	NM_001079802.2(FKTN):c.608del (p.Arg203fs)	FKTN (R180fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675719	NM_001079802.2(FKTN):c.540del (p.Ser180fs)	FKTN (S157fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675718	NM_001079802.2(FKTN):c.594del (p.Lys198fs)	FKTN (K175fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675717	NM_001079802.2(FKTN):c.515A>G (p.His172Arg)	FKTN (H149R +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675716	NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)	FKTN (S17R)	Single nucleotide variant (non-coding transcript variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2675715	NM_001079802.2(FKTN):c.658del (p.Gln220fs)	FKTN (Q197fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 2584581	NM_001079802.2(FKTN):c.-89+8A>G	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X	GUncertain significance
Select item 2140911	NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)	FKTN (K425* +2 more)	Duplication (nonsense +3 more)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 2106216	NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)	FKTN (E350* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1745140	NM_001079802.2(FKTN):c.506A>G (p.His169Arg)	FKTN (H37R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 1740534	NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)	FKTN (P403fs +3 more)	Duplication (frameshift variant +2 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1656621	NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)	FKTN	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GLikely benign
Select item 1582832	NM_001079802.2(FKTN):c.1044+17G>C	FKTN	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GLikely benign
Select item 1447515	NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)	FKTN (M40T +1 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GUncertain significance
Select item 1438053	NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)	FKTN (K296R +2 more)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +6 more	GUncertain significance
Select item 1423621	NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)	FKTN (L57P +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 1423345	NM_001079802.2(FKTN):c.530A>G (p.His177Arg)	FKTN (H177R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1402019	NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg)	FKTN (L263R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1322920	NM_001079802.2(FKTN):c.1167del (p.Lys389fs)	FKTN (K257fs +2 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 1252030	NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)	FKTN (Y26*)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GPathogenic
Select item 1135425	NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)	FKTN	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +5 more	GLikely benign
Select item 1068744	NM_001079802.2(FKTN):c.1022del (p.Pro341fs)	FKTN (P209fs +2 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1012340	NM_001079802.2(FKTN):c.165+1427A>G	FKTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1X	GPathogenic
Select item 969988	NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)	FKTN (Y369* +3 more)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 958466	NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)	FKTN (E100* +1 more)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 947398	NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)	FKTN (N310S +2 more)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 915230	NM_001079802.2(FKTN):c.*462T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 915229	NM_001079802.2(FKTN):c.*166A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 915193	NM_001079802.2(FKTN):c.705A>G (p.Pro235=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1X +2 more	GConflicting classifications of pathogenicity
Select item 914630	NM_001079802.2(FKTN):c.*3778T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GConflicting classifications of pathogenicity
Select item 914595	NM_001079802.2(FKTN):c.*2592T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +4 more	GUncertain significance
Select item 914170	NM_001079802.2(FKTN):c.*4908A>G	FKTN	Single nucleotide variant (3 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 914130	NM_001079802.2(FKTN):c.*3516T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 914129	NM_001079802.2(FKTN):c.*3460G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 914128	NM_001079802.2(FKTN):c.*3352C>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 914081	NM_001079802.2(FKTN):c.*2464G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 914080	NM_001079802.2(FKTN):c.*2427G>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914042	NM_001079802.2(FKTN):c.*1229A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GConflicting classifications of pathogenicity
Select item 914041	NM_001079802.2(FKTN):c.*1175C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 913998	NM_001079802.2(FKTN):c.*100G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913997	NM_001079802.2(FKTN):c.*79C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913996	NM_001079802.2(FKTN):c.*71C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913951	NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)	FKTN (V199I +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +3 more	GUncertain significance
Select item 913908	NM_001079802.2(FKTN):c.-114G>A	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913775	NM_001079802.2(FKTN):c.*4826A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913774	NM_001079802.2(FKTN):c.*4705G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913773	NM_001079802.2(FKTN):c.*4646A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913730	NM_001079802.2(FKTN):c.*3312T>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913686	NM_001079802.2(FKTN):c.*2298C>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913685	NM_001079802.2(FKTN):c.*2254A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913641	NM_001079802.2(FKTN):c.*1010G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 912670	NM_001079802.2(FKTN):c.*4501A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912669	NM_001079802.2(FKTN):c.*4491T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912668	NM_001079802.2(FKTN):c.*3985C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 912631	NM_001079802.2(FKTN):c.*2902C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 912630	NM_001079802.2(FKTN):c.*2674A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 912629	NM_001079802.2(FKTN):c.*2640G>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 912585	NM_001079802.2(FKTN):c.*2213A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GConflicting classifications of pathogenicity
Select item 912584	NM_001079802.2(FKTN):c.*1843A>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GConflicting classifications of pathogenicity
Select item 912583	NM_001079802.2(FKTN):c.*1638A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GConflicting classifications of pathogenicity
Select item 912537	NM_001079802.2(FKTN):c.*806G>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GConflicting classifications of pathogenicity
Select item 912536	NM_001079802.2(FKTN):c.*777C>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GConflicting classifications of pathogenicity
Select item 912535	NM_001079802.2(FKTN):c.*760A>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912534	NM_001079802.2(FKTN):c.*712C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912485	NM_001079802.2(FKTN):c.910+7T>G	FKTN	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 912449	NM_001079802.2(FKTN):c.-39G>A	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 864257	NM_001079802.2(FKTN):c.711C>G (p.His237Gln)	FKTN (H214Q +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 861579	NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)	FKTN (F345L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 859652	NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del)	FKTN	Deletion (inframe_deletion +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 852451	NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)	FKTN (E430K +2 more)	Single nucleotide variant (missense variant +3 more)	Dilated cardiomyopathy 1X +6 more	GUncertain significance
Select item 842124	NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)	FKTN (R233* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 701478	NM_001079802.2(FKTN):c.207T>C (p.Asn69=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 654926	NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)	FKTN (A289fs +2 more)	Indel (frameshift variant +3 more)	Dilated cardiomyopathy 1X +7 more	GConflicting classifications of pathogenicity
Select item 649651	NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)	FKTN (K362* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X +1 more	GPathogenic/Likely pathogenic
Select item 643980	NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)	FKTN (R47Q)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +7 more	GUncertain significance
Select item 620364	NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN (Y252* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 620184	NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)	FKTN (Y392* +3 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X +2 more	GLikely pathogenic
Select item 597909	NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)	FKTN (Y329fs +2 more)	Duplication (frameshift variant +3 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 595560	NM_001079802.2(FKTN):c.911-1G>A	FKTN	Single nucleotide variant (splice acceptor variant)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 558161	NM_001079802.2(FKTN):c.1172+1G>A	FKTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1X +2 more	GPathogenic/Likely pathogenic
Select item 557908	NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)	FKTN (M245fs +2 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 557113	NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)	FKTN (E417* +2 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GConflicting classifications of pathogenicity
Select item 501810	NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)	FKTN (G149R +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +3 more	GUncertain significance
Select item 499551	NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)	FKTN (N446S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +7 more	GUncertain significance
Select item 496331	NM_001079802.2(FKTN):c.648-1243G>T	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X +5 more	GPathogenic/Likely pathogenic

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