FKTN[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1004

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1217694	NM_001079802.2(FKTN):c.-180-242T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201848	NM_001079802.2(FKTN):c.-180-228C>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182155	NM_001079802.2(FKTN):c.-180-105T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326672	NM_001079802.2(FKTN):c.-180-102G>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209079	NM_001079802.2(FKTN):c.-180-102G>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326837	NM_001079802.2(FKTN):c.-180-101G>C	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249258	NM_001079802.2(FKTN):c.-180-15dup	FKTN	Duplication (intron variant)	not provided	GBenign
Select item 1212618	NM_001079802.2(FKTN):c.-180-15del	FKTN	Deletion (intron variant)	not provided	GLikely benign
Select item 364484	NM_001079802.2(FKTN):c.-158G>C	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 364485	NM_001079802.2(FKTN):c.-136A>G	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 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 137382	NM_001079802.2(FKTN):c.-108A>T	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 364486	NM_001079802.2(FKTN):c.-96T>C	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more	GConflicting classifications of pathogenicity
Select item 162563	NM_001079802.2(FKTN):c.-90del	FKTN	Deletion (5 prime UTR variant +2 more)	Dilated Cardiomyopathy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 2584581	NM_001079802.2(FKTN):c.-89+8A>G	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X	GUncertain significance
Select item 1242033	NM_001079802.2(FKTN):c.-89+43T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326817	NM_001079802.2(FKTN):c.-89+120G>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293261	NM_001079802.2(FKTN):c.-89+121T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216768	NM_001079802.2(FKTN):c.-89+243A>G	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187264	NM_001079802.2(FKTN):c.-88-344C>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669851	NM_001079802.2(FKTN):c.-88-268_-88-266del	FKTN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 674071	NM_001079802.2(FKTN):c.-88-247T>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199667	NM_001079802.2(FKTN):c.-88-110T>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137383	NM_001079802.2(FKTN):c.-88-6T>C	FKTN	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1190647	NM_001079802.2(FKTN):c.-88-5C>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 162564	NM_001079802.2(FKTN):c.-77A>G	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 93509	NM_001079802.2(FKTN):c.-45G>T	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
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 651835	NC_000009.11:g.(?_108337304)_(108358948_?)dup	FKTN	Duplication	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 497309	NM_001079802.2(FKTN):c.-7C>G	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2428950	NM_001079802.2(FKTN):c.-6A>G	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 with brain and eye anomalies), type A, 4 +3 more	GConflicting classifications of pathogenicity
Select item 1549842	NM_001079802.2(FKTN):c.6T>C (p.Ser2=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1499818	NM_001079802.2(FKTN):c.6T>G (p.Ser2Arg)	FKTN (S2R)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 407111	NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)	FKTN (R3G)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 2441454	NM_001079802.2(FKTN):c.10A>T (p.Ile4Phe)	FKTN (I4F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 528814	NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu)	FKTN (I4L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1986739	NM_001079802.2(FKTN):c.11T>C (p.Ile4Thr)	FKTN (I4T)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 640673	NM_001079802.2(FKTN):c.12C>G (p.Ile4Met)	FKTN (I4M)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 528831	NM_001079802.2(FKTN):c.12C>T (p.Ile4=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1064269	NM_001079802.2(FKTN):c.13A>C (p.Asn5His)	FKTN (N5H)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 575410	NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp)	FKTN (N5D)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 567644	NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser)	FKTN (N5S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1110840	NM_001079802.2(FKTN):c.15T>C (p.Asn5=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1199354	NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)	FKTN (K6N)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +2 more	GUncertain significance
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 1390918	NM_001079802.2(FKTN):c.21C>G (p.Asn7Lys)	FKTN (N7K)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 286899	NM_001079802.2(FKTN):c.21C>T (p.Asn7=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 566394	NM_001079802.2(FKTN):c.22G>A (p.Val8Met)	FKTN (V8M)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 264150	NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)	FKTN (V8L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1060463	NM_001079802.2(FKTN):c.25G>C (p.Val9Leu)	FKTN (V9L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 162566	NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	FKTN (V9F)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GUncertain significance
Select item 1796211	NM_001079802.2(FKTN):c.27T>G (p.Val9=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 640945	NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser)	FKTN (L10S)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 528835	NM_001079802.2(FKTN):c.30G>A (p.Leu10=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 528829	NM_001079802.2(FKTN):c.34C>G (p.Leu12Val)	FKTN (L12V)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1560000	NM_001079802.2(FKTN):c.37T>C (p.Leu13=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
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 952152	NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg)	FKTN (T14R)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 93520	NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	FKTN (T14M)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +7 more	GUncertain significance
Select item 1103946	NM_001079802.2(FKTN):c.42G>T (p.Thr14=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 697042	NM_001079802.2(FKTN):c.42G>C (p.Thr14=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 555661	NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)	FKTN	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GPathogenic/Likely pathogenic
Select item 93521	NM_001079802.2(FKTN):c.42G>A (p.Thr14=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign
Select item 1960176	NM_001079802.2(FKTN):c.43C>T (p.Leu15=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1652854	NM_001079802.2(FKTN):c.45G>T (p.Leu15=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1610355	NM_001079802.2(FKTN):c.48A>G (p.Thr16=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
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 1947573	NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)	FKTN (S17G)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2837318	NM_001079802.2(FKTN):c.51T>C (p.Ser17=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
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 1137007	NM_001079802.2(FKTN):c.57A>G (p.Ala19=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 459222	NM_001079802.2(FKTN):c.58T>G (p.Phe20Val)	FKTN (F20V)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 1155137	NM_001079802.2(FKTN):c.61C>T (p.Leu21=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 285459	NM_001079802.2(FKTN):c.63G>C (p.Leu21=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2011842	NM_001079802.2(FKTN):c.64C>T (p.Leu22=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1940908	NM_001079802.2(FKTN):c.66G>C (p.Leu22=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1726869	NM_001079802.2(FKTN):c.69dup (p.Gln24fs)	FKTN (Q24fs)	Duplication (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1124102	NM_001079802.2(FKTN):c.66G>A (p.Leu22=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1418803	NM_001079802.2(FKTN):c.67T>C (p.Phe23Leu)	FKTN (F23L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2065996	NM_001079802.2(FKTN):c.69T>G (p.Phe23Leu)	FKTN (F23L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1123139	NM_001079802.2(FKTN):c.69T>C (p.Phe23=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1597264	NM_001079802.2(FKTN):c.73T>C (p.Leu25=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
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 414299	NM_001079802.2(FKTN):c.75G>A (p.Leu25=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 450313	NM_001079802.2(FKTN):c.76TAC[2] (p.Tyr28del)	FKTN (Y28del)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
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 729805	NM_001079802.2(FKTN):c.78C>T (p.Tyr26=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3232625	NM_001079802.2(FKTN):c.80A>G (p.Tyr27Cys)	FKTN (Y27C)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2908517	NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)	FKTN (Y28fs)	Insertion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 528822	NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys)	FKTN (Y28C)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1765394	NM_001079802.2(FKTN):c.89A>G (p.His30Arg)	FKTN (H30R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1531532	NM_001079802.2(FKTN):c.90C>T (p.His30=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 568936	NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys)	FKTN (Y31C)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 1155807	NM_001079802.2(FKTN):c.93T>C (p.Tyr31=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1073035	NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter)	FKTN (Y31*)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 380678	NM_001079802.2(FKTN):c.102A>C (p.Thr34=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1442865	NM_001079802.2(FKTN):c.105G>A (p.Lys35=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1521019	NM_001079802.2(FKTN):c.105+6T>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 997932	NM_001079802.2(FKTN):c.105+6T>C	FKTN	Single nucleotide variant (intron variant)	not specified	GUncertain significance

<< First< Prev

Page of 11