"Baylor Genetics"[submitter] AND "FKTN"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2675716	NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)	FKTN (S17R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 3200	NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	FKTN (R47*)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic
Select item 2675727	NM_001079802.2(FKTN):c.166-1G>A	FKTN	Single nucleotide variant (splice acceptor variant)	Walker-Warburg congenital muscular dystrophy +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 844703	NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)	FKTN (F87fs +1 more)	Deletion (frameshift variant +2 more)	FKTN-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3206	NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	FKTN (Q116* +1 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X +2 more	GPathogenic
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 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 1508951	NM_001079802.2(FKTN):c.369+1G>A	FKTN	Single nucleotide variant (splice donor variant)	not provided +2 more	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 3239664	NM_001079802.2(FKTN):c.398del (p.Met133fs)	FKTN (M110fs +2 more)	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1X +1 more	GLikely pathogenic
Select item 167069	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN (C137* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 3205	NM_001079802.2(FKTN):c.454dup (p.Ser152fs)	FKTN (S152fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1X +1 more	GPathogenic
Select item 283622	NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	FKTN (S131fs +2 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GPathogenic/Likely pathogenic
Select item 3214	NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)	FKTN (A170E +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +1 more	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 666969	NM_001079802.2(FKTN):c.528dup (p.His177fs)	FKTN (H154fs +2 more)	Duplication (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely 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 3210	NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)	FKTN (R179T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 225359	NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	FKTN (R203* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GPathogenic
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 93523	NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	FKTN (D192* +2 more)	Duplication (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GPathogenic/Likely pathogenic
Select item 496331	NM_001079802.2(FKTN):c.648-1243G>T	FKTN	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more	GPathogenic/Likely 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 3241634	NM_001079802.2(FKTN):c.750T>A (p.Cys250Ter)	FKTN (C118* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 620364	NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN (Y252* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 3241633	NM_001079802.2(FKTN):c.764dup (p.Arg256fs)	FKTN (R124fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
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 371050	NM_001079802.2(FKTN):c.770del (p.Ala257fs)	FKTN (A125fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X +1 more	GLikely pathogenic
Select item 2675731	NM_001079802.2(FKTN):c.910+1G>C	FKTN	Single nucleotide variant (splice donor variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 595560	NM_001079802.2(FKTN):c.911-1G>A	FKTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1X +2 more	GPathogenic/Likely 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 3216	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN (R307* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +7 more	GPathogenic
Select item 3208	NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	FKTN (R307Q +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +3 more	GPathogenic/Likely pathogenic
Select item 3241635	NM_001079802.2(FKTN):c.943_953delinsTCC (p.Ser315_Lys316insTer)	FKTN	Indel (frameshift variant +1 more)	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 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 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 3241636	NM_001079802.2(FKTN):c.1038del (p.Phe346fs)	FKTN (F214fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
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 2675724	NM_001079802.2(FKTN):c.1045-1G>T	FKTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 3241632	NM_001079802.2(FKTN):c.1058T>A (p.Leu353Ter)	FKTN (L221* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X	GPathogenic
Select item 371091	NM_001079802.2(FKTN):c.1106del (p.Phe369fs)	FKTN (F237fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X +3 more	GPathogenic/Likely pathogenic
Select item 3215	NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	FKTN (Y371C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 557908	NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)	FKTN (M245fs +2 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 649651	NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)	FKTN (K362* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3203	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN (F258fs +2 more)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +8 more	GPathogenic
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 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 1740534	NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)	FKTN (P403fs +3 more)	Duplication (nonsense +2 more)	Dilated cardiomyopathy 1X +1 more	GLikely pathogenic
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 620184	NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)	FKTN (Y392* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GLikely pathogenic
Select item 431957	NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)	FKTN	Deletion (inframe_deletion +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
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 557113	NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)	FKTN (E417* +2 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X +1 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)	FKTN-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 290602	NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)	FKTN (G424S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2140911	NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)	FKTN (K425* +2 more)	Duplication (nonsense +3 more)	Dilated cardiomyopathy 1X +1 more	GLikely pathogenic
Select item 284055	NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)	FKTN (P440fs +2 more)	Microsatellite (frameshift variant +3 more)	Walker-Warburg congenital muscular dystrophy +2 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 +3 more	GConflicting classifications of pathogenicity

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Items: 67