"FKTN-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 364486	NM_001079802.2(FKTN):c.-96T>C	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 501832	NM_001079802.2(FKTN):c.166-9C>T	FKTN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36139	NM_001079802.2(FKTN):c.166-4A>G	FKTN	Single nucleotide variant (intron variant)	Myopathy caused by variation in FKTN +7 more	GConflicting classifications of pathogenicity
Select item 93518	NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	FKTN (R56H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 459221	NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)	FKTN (T98S +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GUncertain significance
Select item 844703	NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)	FKTN (F87fs +1 more)	Deletion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 501555	NM_001079802.2(FKTN):c.357A>G (p.Leu119=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3046044	NM_001079802.2(FKTN):c.647+30A>T	FKTN	Single nucleotide variant (intron variant)	FKTN-related disorder	GLikely benign
Select item 1186002	NM_001079802.2(FKTN):c.647+36G>A	FKTN	Single nucleotide variant (intron variant)	FKTN-related disorder +1 more	GBenign/Likely benign
Select item 162568	NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)	FKTN (T223I +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +3 more	GBenign/Likely benign
Select item 264299	NM_001079802.2(FKTN):c.681G>A (p.Leu227=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 390531	NM_001079802.2(FKTN):c.766C>A (p.Arg256=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1X +6 more	GConflicting classifications of pathogenicity
Select item 265152	NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)	FKTN (K290I +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 289241	NM_001079802.2(FKTN):c.911-8C>A	FKTN	Single nucleotide variant (intron variant)	FKTN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 167070	NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)	FKTN (G387R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 514058	NM_001079802.2(FKTN):c.1172+13T>C	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 283469	NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)	FKTN (H410N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +8 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)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1970678	NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)	FKTN (G401fs +2 more)	Duplication (frameshift variant +2 more)	FKTN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1522792	NM_001079802.2(FKTN):c.1333C>G (p.Pro445Ala)	FKTN (P422A +2 more)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype +2 more	GUncertain significance

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Items: 20