ClinVar for Gene (Select 2218) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336481	NM_001079802.2(FKTN):c.497T>C (p.Leu166Pro)	FKTN (L143P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335983	NM_001079802.2(FKTN):c.915G>C (p.Trp305Cys)	FKTN (W173C +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 3279000	NM_001079802.2(FKTN):c.75G>T (p.Leu25Phe)	FKTN (L25F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3278999	NM_001079802.2(FKTN):c.1013C>T (p.Ala338Val)	FKTN (A206V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3278998	NM_001079802.2(FKTN):c.589A>G (p.Arg197Gly)	FKTN (R197G +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3278997	NM_001079802.2(FKTN):c.939T>A (p.Pro313=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3278996	NM_001079802.2(FKTN):c.474C>A (p.Ile158=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3278994	NM_001079802.2(FKTN):c.541G>T (p.Gly181Cys)	FKTN (G181C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3278993	NM_001079802.2(FKTN):c.1100T>G (p.Val367Gly)	FKTN (V235G +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3278992	NM_001079802.2(FKTN):c.728C>T (p.Pro243Leu)	FKTN (P111L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3278991	NM_001079802.2(FKTN):c.398T>C (p.Met133Thr)	FKTN (M1T +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3250776	NC_000009.12:g.105644774C>T	FKTN	Single nucleotide variant	not provided	GLikely benign
Select item 3245103	NC_000009.11:g.(?_108358859)_(108368857_?)dup	FKTN	Duplication	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 3245101	NC_000009.11:g.(?_108358859)_(108382362_?)dup	FKTN	Duplication	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 3245100	NC_000009.11:g.(?_108358859)_(108366793_?)del	FKTN	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 3245099	NC_000009.11:g.(?_108368857)_(108370242_?)del	FKTN	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 3245098	NC_000009.11:g.(?_108366486)_(108368857_?)del	FKTN	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 3245097	NC_000009.11:g.(?_108337314)_(108397545_?)del	FKTN	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
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 3232626	NM_001079802.2(FKTN):c.975A>G (p.Gln325=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	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 3232624	NM_001079802.2(FKTN):c.752G>T (p.Arg251Met)	FKTN (R119M +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232623	NM_001079802.2(FKTN):c.740T>G (p.Phe247Cys)	FKTN (F115C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232622	NM_001079802.2(FKTN):c.397A>T (p.Met133Leu)	FKTN (M110L +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232620	NM_001079802.2(FKTN):c.304A>G (p.Lys102Glu)	FKTN (K102E +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3095359	NM_001079802.2(FKTN):c.832A>G (p.Lys278Glu)	FKTN (K255E +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 3046044	NM_001079802.2(FKTN):c.647+30A>T	FKTN	Single nucleotide variant (intron variant)	FKTN-related disorder	GLikely benign
Select item 3022081	NM_001079802.2(FKTN):c.921A>G (p.Arg307=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3019726	NM_001079802.2(FKTN):c.780+16A>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3014363	NM_001079802.2(FKTN):c.312C>T (p.Phe104=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3013390	NM_001079802.2(FKTN):c.369+12G>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3009982	NM_001079802.2(FKTN):c.546C>T (p.Asn182=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2998392	NM_001079802.2(FKTN):c.696A>G (p.Pro232=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2994202	NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)	FKTN (N86fs +1 more)	Deletion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2984878	NM_001079802.2(FKTN):c.648-18C>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2980746	NM_001079802.2(FKTN):c.106-17T>C	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2979607	NM_001079802.2(FKTN):c.1053C>T (p.Asp351=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2965631	NM_001079802.2(FKTN):c.1143C>A (p.Gly381=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2963586	NM_001079802.2(FKTN):c.911-18A>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2956944	NM_001079802.2(FKTN):c.370-18A>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2955021	NM_001079802.2(FKTN):c.273A>G (p.Lys91=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2920089	NM_001079802.2(FKTN):c.513C>A (p.Ile171=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 2914144	NM_001079802.2(FKTN):c.105+15T>C	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2912964	NM_001079802.2(FKTN):c.911-16T>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2908730	NM_001079802.2(FKTN):c.370-8G>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2908545	NM_001079802.2(FKTN):c.166-16T>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
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 2905426	NM_001079802.2(FKTN):c.861A>G (p.Thr287=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2902621	NM_001079802.2(FKTN):c.1045-5C>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2900196	NM_001079802.2(FKTN):c.166-17C>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2886269	NM_001079802.2(FKTN):c.1173-16C>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2872613	NM_001079802.2(FKTN):c.1173-19T>C	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2867935	NM_001079802.2(FKTN):c.781-17A>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2867240	NM_001079802.2(FKTN):c.165+1G>T	FKTN	Single nucleotide variant (splice donor variant)	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 2863905	NM_001079802.2(FKTN):c.660G>A (p.Gln220=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2861389	NM_001079802.2(FKTN):c.106-20T>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2861195	NM_001079802.2(FKTN):c.647+8C>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2860112	NM_001079802.2(FKTN):c.647+20G>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2856285	NM_001079802.2(FKTN):c.252T>C (p.Asn84=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2851153	NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)	FKTN (W55*)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2850808	NM_001079802.2(FKTN):c.993T>C (p.Ile331=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2848404	NM_001079802.2(FKTN):c.900A>G (p.Gly300=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2846551	NM_001079802.2(FKTN):c.780+7G>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
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 2836343	NM_001079802.2(FKTN):c.120G>A (p.Leu40=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2834963	NM_001079802.2(FKTN):c.666T>C (p.Val222=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2834857	NM_001079802.2(FKTN):c.306G>A (p.Lys102=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2834108	NM_001079802.2(FKTN):c.780+12C>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2833948	NM_001079802.2(FKTN):c.780+10A>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2833244	NM_001079802.2(FKTN):c.106-13G>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2829563	NM_001079802.2(FKTN):c.540T>C (p.Ser180=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2827179	NM_001079802.2(FKTN):c.412C>T (p.Leu138=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2824276	NM_001079802.2(FKTN):c.781-8A>C	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2823675	NM_001079802.2(FKTN):c.659A>G (p.Gln220Arg)	FKTN (Q197R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2821528	NM_001079802.2(FKTN):c.162G>A (p.Gln54=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2820878	NM_001079802.2(FKTN):c.106-12T>C	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2818821	NM_001079802.2(FKTN):c.1266C>T (p.Asn422=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2812186	NM_001079802.2(FKTN):c.738G>A (p.Arg246=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2812185	NM_001079802.2(FKTN):c.479del (p.Leu160fs)	FKTN (L160fs +2 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2812111	NM_001079802.2(FKTN):c.910+13C>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2799228	NM_001079802.2(FKTN):c.165+13A>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2799150	NM_001079802.2(FKTN):c.1167A>G (p.Lys389=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2798382	NM_001079802.2(FKTN):c.1176C>T (p.Tyr392=)	FKTN (P403S)	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2796863	NM_001079802.2(FKTN):c.648-17T>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2792432	NM_001079802.2(FKTN):c.276T>C (p.Asn92=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2789844	NM_001079802.2(FKTN):c.1263C>T (p.Ala421=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2788682	NM_001079802.2(FKTN):c.780+13C>G	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2787966	NM_001079802.2(FKTN):c.979_985dup (p.Ser329fs)	FKTN (S306fs +2 more)	Duplication (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2785526	NM_001079802.2(FKTN):c.384G>T (p.Arg128=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2779477	NM_001079802.2(FKTN):c.803_804del (p.Val268fs)	FKTN (V136fs +2 more)	Microsatellite (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2777036	NM_001079802.2(FKTN):c.1098T>C (p.Asp366=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2766810	NM_001079802.2(FKTN):c.780+20G>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2764204	NM_001079802.2(FKTN):c.1110C>T (p.Phe370=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign

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