Related gene-specific medical variations for Gene (Select 100526835) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180533	NM_015978.3(TNNI3K):c.2176A>G (p.Ile726Val)	FPGT-TNNI3K, LRRC53 +1 more (I827V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180532	NM_015978.3(TNNI3K):c.1795G>A (p.Asp599Asn)	FPGT-TNNI3K, TNNI3K (D599N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180531	NM_015978.3(TNNI3K):c.1328C>A (p.Ala443Glu)	FPGT-TNNI3K, TNNI3K (A443E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180530	NM_015978.3(TNNI3K):c.1327G>T (p.Ala443Ser)	FPGT-TNNI3K, TNNI3K (A443S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096655	NM_015978.3(TNNI3K):c.1439G>A (p.Gly480Glu)	FPGT-TNNI3K, TNNI3K (G480E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096654	NM_015978.3(TNNI3K):c.1289C>A (p.Ser430Ter)	FPGT-TNNI3K, TNNI3K (S430* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3096653	NM_015978.3(TNNI3K):c.1178G>T (p.Gly393Val)	FPGT-TNNI3K, TNNI3K (G393V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096652	NM_003838.5(FPGT):c.676C>T (p.Arg226Cys)	FPGT, FPGT-TNNI3K (R226C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096651	NM_003838.5(FPGT):c.341C>G (p.Ser114Cys)	FPGT, FPGT-TNNI3K (S114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096650	NM_003838.5(FPGT):c.1758A>T (p.Glu586Asp)	FPGT, FPGT-TNNI3K (E586D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096649	NM_003838.5(FPGT):c.1720G>A (p.Glu574Lys)	FPGT, FPGT-TNNI3K (E320K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096648	NM_003838.5(FPGT):c.1666C>G (p.Leu556Val)	FPGT, FPGT-TNNI3K (L302V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096647	NM_003838.5(FPGT):c.1665C>G (p.Ser555Arg)	FPGT, FPGT-TNNI3K (S301R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096646	NM_003838.5(FPGT):c.1544G>T (p.Gly515Val)	FPGT, FPGT-TNNI3K (G261V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096644	NM_003838.5(FPGT):c.1454C>T (p.Ser485Leu)	FPGT, FPGT-TNNI3K (S485L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096643	NM_003838.5(FPGT):c.1168C>G (p.Pro390Ala)	FPGT, FPGT-TNNI3K (F117L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096642	NM_003838.5(FPGT):c.1055A>G (p.Asn352Ser)	FPGT, FPGT-TNNI3K (N352S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096641	NM_003838.5(FPGT):c.1012T>G (p.Phe338Val)	FPGT, FPGT-TNNI3K (F338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076078	NC_000001.10:g.(?_74701070)_(74701895_?)dup	FPGT-TNNI3K, TNNI3K	Duplication	Atrial conduction disease	GUncertain significance
Select item 3068706	NM_015978.3(TNNI3K):c.19A>G (p.Arg7Gly)	FPGT-TNNI3K, TNNI3K (R7G)	Single nucleotide variant (missense variant +1 more)	Atrial conduction disease	GUncertain significance
Select item 3068614	NM_015978.3(TNNI3K):c.92T>G (p.Leu31Ter)	FPGT-TNNI3K, TNNI3K (L132* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3062587	GRCh37/hg19 1p31.1(chr1:74742161-74907436)x1	FPGT-TNNI3K, TNNI3K	Copy number loss	not specified	GUncertain significance
Select item 3050439	NM_015978.3(TNNI3K):c.2496G>A (p.Glu832=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	FPGT-TNNI3K-related condition	GLikely benign
Select item 3023291	NM_015978.3(TNNI3K):c.1218A>G (p.Arg406=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022517	NM_001382280.1(LRRC53):c.-26-8904T>C	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018441	NM_015978.3(TNNI3K):c.1797T>C (p.Asp599=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016648	NM_015978.3(TNNI3K):c.38_40+3del	FPGT-TNNI3K, TNNI3K	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 3013588	NM_015978.3(TNNI3K):c.2505C>G (p.Ser835Arg)	FPGT-TNNI3K, TNNI3K (S835R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013045	NM_015978.3(TNNI3K):c.1321+19A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012890	NM_015978.3(TNNI3K):c.1520G>C (p.Cys507Ser)	TNNI3K, FPGT-TNNI3K (C507S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012852	NM_015978.3(TNNI3K):c.2011+1G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3011328	NM_015978.3(TNNI3K):c.2432-11T>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3010363	NM_015978.3(TNNI3K):c.2260G>A (p.Gly754Arg)	TNNI3K, FPGT-TNNI3K +1 more (G855R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009670	NM_015978.3(TNNI3K):c.1905G>A (p.Val635=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007524	NM_015978.3(TNNI3K):c.2210G>A (p.Ser737Asn)	TNNI3K, FPGT-TNNI3K +1 more (S838N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006835	NM_015978.3(TNNI3K):c.1471C>G (p.Arg491Gly)	FPGT-TNNI3K, TNNI3K (R491G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006726	NM_015978.3(TNNI3K):c.1027+11G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006073	NM_015978.3(TNNI3K):c.1322-14A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3005191	NM_015978.3(TNNI3K):c.2028C>T (p.Asp676=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004573	NM_015978.3(TNNI3K):c.37A>G (p.Thr13Ala)	FPGT-TNNI3K, TNNI3K (T13A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003780	NM_015978.3(TNNI3K):c.1179G>A (p.Gly393=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003737	NM_015978.3(TNNI3K):c.253C>G (p.Arg85Gly)	FPGT-TNNI3K, TNNI3K (R186G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003379	NM_015978.3(TNNI3K):c.569G>A (p.Gly190Asp)	FPGT-TNNI3K, TNNI3K (G291D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003275	NM_015978.3(TNNI3K):c.544-20C>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003184	NM_015978.3(TNNI3K):c.1522C>A (p.Arg508=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3003065	NM_015978.3(TNNI3K):c.534A>G (p.Gly178=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999936	NM_015978.3(TNNI3K):c.810A>C (p.Gly270=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999241	NM_015978.3(TNNI3K):c.840T>C (p.Asn280=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998797	NM_015978.3(TNNI3K):c.2468A>T (p.His823Leu)	FPGT-TNNI3K, TNNI3K (H924L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997239	NM_015978.3(TNNI3K):c.933-3C>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997227	NM_015978.3(TNNI3K):c.312C>A (p.Ala104=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996994	NM_015978.3(TNNI3K):c.1714A>G (p.Lys572Glu)	FPGT-TNNI3K, TNNI3K (K572E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995432	NM_015978.3(TNNI3K):c.682+11A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995264	NM_015978.3(TNNI3K):c.2012-18T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995155	NM_015978.3(TNNI3K):c.1982G>C (p.Gly661Ala)	FPGT-TNNI3K, TNNI3K (G661A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994822	NM_015978.3(TNNI3K):c.2085A>T (p.Ser695=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994024	NM_015978.3(TNNI3K):c.1422del (p.Phe474fs)	FPGT-TNNI3K, TNNI3K (F575fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2993969	NM_015978.3(TNNI3K):c.2121+5G>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993403	NM_015978.3(TNNI3K):c.2296_2298del (p.Arg766del)	FPGT-TNNI3K, LRRC53 +1 more (R766del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2992914	NM_015978.3(TNNI3K):c.1790A>G (p.Tyr597Cys)	FPGT-TNNI3K, TNNI3K (Y597C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2992831	NM_015978.3(TNNI3K):c.786A>T (p.Gln262His)	FPGT-TNNI3K, TNNI3K (Q363H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992053	NM_015978.3(TNNI3K):c.2187G>T (p.Met729Ile)	FPGT-TNNI3K, LRRC53 +1 more (M729I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991792	NM_015978.3(TNNI3K):c.1027+1G>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2991415	NM_015978.3(TNNI3K):c.1074C>A (p.Phe358Leu)	FPGT-TNNI3K, TNNI3K (F358L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990605	NM_015978.3(TNNI3K):c.444+14_444+15del	FPGT-TNNI3K, TNNI3K	Deletion (intron variant)	not provided	GLikely benign
Select item 2990383	NM_015978.3(TNNI3K):c.1659G>A (p.Glu553=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989495	NM_015978.3(TNNI3K):c.543+14T>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989169	NM_015978.3(TNNI3K):c.2305T>C (p.Leu769=)	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988793	NM_015978.3(TNNI3K):c.1878+9C>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988195	NM_015978.3(TNNI3K):c.1384G>A (p.Glu462Lys)	FPGT-TNNI3K, TNNI3K (E563K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986948	NM_001382280.1(LRRC53):c.-26-5880C>A	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986710	NM_015978.3(TNNI3K):c.1264+11T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986293	NM_015978.3(TNNI3K):c.235+5G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985852	NM_001382280.1(LRRC53):c.-26-5794C>A	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985551	NM_001382280.1(LRRC53):c.-26-8913_-26-8909dup	FPGT-TNNI3K, LRRC53 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2984901	NM_015978.3(TNNI3K):c.1772+10T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983949	NM_015978.3(TNNI3K):c.1620A>T (p.Gln540His)	TNNI3K, FPGT-TNNI3K (Q540H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983744	NM_015978.3(TNNI3K):c.2403T>C (p.Ser801=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983002	NM_001382280.1(LRRC53):c.-26-8908C>T	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982852	NM_015978.3(TNNI3K):c.616C>G (p.Leu206Val)	FPGT-TNNI3K, TNNI3K (L206V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982724	NM_001382280.1(LRRC53):c.-26-8909G>A	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981226	NM_015978.3(TNNI3K):c.2431+13A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981041	NM_015978.3(TNNI3K):c.894_897del (p.Thr299fs)	FPGT-TNNI3K, TNNI3K (T400fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2978612	NM_015978.3(TNNI3K):c.548C>T (p.Thr183Ile)	FPGT-TNNI3K, TNNI3K (T183I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976646	NM_015978.3(TNNI3K):c.574G>C (p.Asp192His)	FPGT-TNNI3K, TNNI3K (D192H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976271	NM_015978.3(TNNI3K):c.1878+16T>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975807	NM_015978.3(TNNI3K):c.1825+10C>T	TNNI3K, FPGT-TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973413	NM_015978.3(TNNI3K):c.828-20G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972641	NM_015978.3(TNNI3K):c.235+12A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972258	NM_015978.3(TNNI3K):c.2012-4G>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972208	NM_015978.3(TNNI3K):c.624T>C (p.Ser208=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971223	NM_015978.3(TNNI3K):c.1667+14G>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968995	NM_015978.3(TNNI3K):c.964del (p.Val322fs)	FPGT-TNNI3K, TNNI3K (V423fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2968960	NM_015978.3(TNNI3K):c.2072C>T (p.Pro691Leu)	FPGT-TNNI3K, TNNI3K (P691L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967688	NM_015978.3(TNNI3K):c.1321+16G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967601	NM_015978.3(TNNI3K):c.1144G>A (p.Glu382Lys)	FPGT-TNNI3K, TNNI3K (E483K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965458	NM_015978.3(TNNI3K):c.2432-4G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965020	NM_015978.3(TNNI3K):c.166A>T (p.Ser56Cys)	FPGT-TNNI3K, TNNI3K (S56C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964837	NM_015978.3(TNNI3K):c.1050C>T (p.His350=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963106	NM_015978.3(TNNI3K):c.906C>T (p.Asn302=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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