Related gene-specific medical variations for Gene (Select 2218) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3241635	NM_001079802.2(FKTN):c.943_953delinsTCC (p.Ser315_Lys316insTer)	FKTN	Indel (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 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 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 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 2689069	NM_001079802.2(FKTN):c.74_75delinsAT (p.Leu25Tyr)	FKTN (L25Y)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 2689068	NM_001079802.2(FKTN):c.875G>C (p.Gly292Ala)	FKTN (G160A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 (missense 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 2441462	NM_001079802.2(FKTN):c.902C>A (p.Thr301Asn)	FKTN (T169N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441460	NM_001079802.2(FKTN):c.116G>C (p.Gly39Ala)	FKTN (G39A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2441459	NM_001079802.2(FKTN):c.235A>G (p.Ile79Val)	FKTN (I56V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2441458	NM_001079802.2(FKTN):c.1131G>T (p.Met377Ile)	FKTN (M245I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441457	NM_001079802.2(FKTN):c.1169T>G (p.Phe390Cys)	FKTN (F258C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441455	NM_001079802.2(FKTN):c.484T>C (p.Tyr162His)	FKTN (Y139H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1330918	NM_001079802.2(FKTN):c.326A>T (p.Asp109Val)	FKTN (D109V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1324406	NM_001079802.2(FKTN):c.1362G>A (p.Trp454Ter)	FKTN (W322* +2 more)	Single nucleotide variant (nonsense +3 more)	not provided	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 1186214	NM_001079802.2(FKTN):c.-181+40T>A	FKTN-AS1, FKTN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174073	NM_001079802.2(FKTN):c.126del (p.Lys42fs)	FKTN (K42fs)	Deletion (frameshift variant +2 more)	Global developmental delay	GUncertain significance
Select item 681572	NM_001079802.2(FKTN):c.-199C>T	FKTN, FKTN-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 563566	GRCh37/hg19 9q31.2(chr9:108331166-108394748)x1	FKTN	Copy number loss	not provided	GUncertain significance
Select item 553589	NM_001079802.2(FKTN):c.-181+1G>C	FKTN, FKTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 364483	NM_001079802.2(FKTN):c.-181+1G>T	FKTN-AS1, FKTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 260022	NM_001079802.2(FKTN):c.370-50T>C	FKTN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 260021	NM_001079802.2(FKTN):c.1044+44A>G	FKTN	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 235328	NM_001079802.2(FKTN):c.369+1G>T	FKTN	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 162565	NM_001079802.2(FKTN):c.-191del	FKTN, FKTN-AS1	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 3202	NM_006731.2:c.911-24_911-23insN[1200]	FKTN	Insertion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GPathogenic
Select item 3199	NM_006731.2(FKTN):c.4392_4393ins[AB185332.1]	FKTN	Insertion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GPathogenic

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Links from Gene

Items: 49