C0410174[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 551221	NM_001079802.2(FKTN):c.-1_2del (p.Met1del)	FKTN (M1del)	Deletion (inframe_deletion +3 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +3 more	GConflicting classifications of pathogenicity
Select item 555661	NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)	FKTN	Deletion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 552263	NM_001079802.2(FKTN):c.106-2A>G	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 370768	NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)	FKTN (G37*)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 557148	NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del)	FKTN	Deletion (inframe_deletion +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 550669	NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle)	FKTN	Deletion (inframe_indel +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 281839	NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	FKTN (T111fs +1 more)	Duplication (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +6 more	GPathogenic/Likely pathogenic
Select item 3213	NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)	FKTN (A114T +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 551769	NM_001079802.2(FKTN):c.370-2A>G	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	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 370133	NM_001079802.2(FKTN):c.429del (p.Asp144fs)	FKTN (D121fs +2 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 554414	NM_001079802.2(FKTN):c.557A>G (p.His186Arg)	FKTN (H186R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
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 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 371297	NM_001079802.2(FKTN):c.658_661del (p.Gln220fs)	FKTN (Q88fs +2 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely 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 370420	NM_001079802.2(FKTN):c.780+1G>A	FKTN	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	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 556831	NM_001079802.2(FKTN):c.1099del (p.Val367fs)	FKTN (V235fs +2 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
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 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 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 558611	NM_001079802.2(FKTN):c.1173-2A>G	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 553352	NM_001079802.2(FKTN):c.1173-1G>C	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GConflicting classifications of pathogenicity
Select item 552964	NM_001079802.2(FKTN):c.1173-1G>A	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 553779	NM_001079802.2(FKTN):c.1201del (p.Trp401fs)	FKTN (L411fs +3 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
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 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 558217	NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)	FKTN (N399fs +2 more)	Deletion (frameshift variant +3 more)	Walker-Warburg congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 555058	NM_001079802.2(FKTN):c.*4859A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 554106	NM_001079802.2(FKTN):c.*4859A>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance

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Items: 33