ClinVar for MedGen (Select 863722) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242078	NM_015978.3(TNNI3K):c.791A>T (p.His264Leu)	FPGT-TNNI3K, TNNI3K (H264L +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease	GUncertain significance
Select item 3234925	NM_015978.3(TNNI3K):c.2222C>A (p.Ser741Ter)	FPGT-TNNI3K, LRRC53 +1 more (S741* +1 more)	Single nucleotide variant (nonsense +1 more)	Atrial conduction disease	GLikely pathogenic
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 2628075	NM_015978.3(TNNI3K):c.1392G>T (p.Glu464Asp)	FPGT-TNNI3K, TNNI3K (E464D +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease	GUncertain significance
Select item 2584599	NM_001382280.1(LRRC53):c.2630C>T (p.Ala877Val)	FPGT-TNNI3K, LRRC53 +1 more (A845V +1 more)	Single nucleotide variant (missense variant +1 more)	Atrial conduction disease	GUncertain significance
Select item 2203153	NM_015978.3(TNNI3K):c.2309A>T (p.Glu770Val)	FPGT-TNNI3K, LRRC53 +1 more (E770V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2180971	NM_015978.3(TNNI3K):c.1389T>G (p.Ile463Met)	FPGT-TNNI3K, TNNI3K (I463M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2143051	NM_015978.3(TNNI3K):c.1318A>C (p.Lys440Gln)	FPGT-TNNI3K, TNNI3K (K440Q +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +2 more	GUncertain significance
Select item 2118028	NM_015978.3(TNNI3K):c.2258G>C (p.Gly753Ala)	FPGT-TNNI3K, LRRC53 +1 more (G854A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2051163	NM_015978.3(TNNI3K):c.1747C>T (p.Pro583Ser)	FPGT-TNNI3K, TNNI3K (P583S +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +2 more	GUncertain significance
Select item 1969169	NM_015978.3(TNNI3K):c.530A>G (p.Tyr177Cys)	FPGT-TNNI3K, TNNI3K (Y177C +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +2 more	GUncertain significance
Select item 1959692	NM_015978.3(TNNI3K):c.368G>A (p.Ser123Asn)	FPGT-TNNI3K, TNNI3K (S123N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1957248	NM_015978.3(TNNI3K):c.2177T>C (p.Ile726Thr)	FPGT-TNNI3K, LRRC53 +1 more (I827T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1941266	NM_015978.3(TNNI3K):c.731G>T (p.Arg244Leu)	FPGT-TNNI3K, TNNI3K (R244L +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 1922747	NM_015978.3(TNNI3K):c.290T>G (p.Leu97Arg)	FPGT-TNNI3K, TNNI3K (L97R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1902420	NM_015978.3(TNNI3K):c.1595C>T (p.Pro532Leu)	FPGT-TNNI3K, TNNI3K (P633L +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +2 more	GUncertain significance
Select item 1802225	NM_015978.3(TNNI3K):c.538G>T (p.Glu180Ter)	FPGT-TNNI3K, TNNI3K (E180* +1 more)	Single nucleotide variant (nonsense)	Atrial conduction disease +1 more	GConflicting classifications of pathogenicity
Select item 1802221	NM_015978.3(TNNI3K):c.1921C>T (p.Arg641Trp)	FPGT-TNNI3K, TNNI3K (R641W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1679708	NM_001382280.1(LRRC53):c.2543_2546dup (p.Glu849delinsAspTer)	FPGT-TNNI3K, LRRC53 +1 more	Duplication (nonsense +1 more)	Atrial conduction disease	GUncertain significance
Select item 1599675	NM_015978.3(TNNI3K):c.193G>T (p.Glu65Ter)	FPGT-TNNI3K, TNNI3K (E166* +1 more)	Single nucleotide variant (nonsense)	Atrial conduction disease +1 more	GBenign/Likely benign
Select item 1545733	NM_015978.3(TNNI3K):c.1772G>C (p.Ser591Thr)	FPGT-TNNI3K, TNNI3K (S591T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1514392	NM_015978.3(TNNI3K):c.175A>G (p.Asn59Asp)	TNNI3K, FPGT-TNNI3K (N160D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1496771	NM_015978.3(TNNI3K):c.1471C>T (p.Arg491Cys)	FPGT-TNNI3K, TNNI3K (R491C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1477156	NM_015978.3(TNNI3K):c.2269C>T (p.Arg757Trp)	TNNI3K, FPGT-TNNI3K +1 more (R858W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1474167	NM_015978.3(TNNI3K):c.912C>G (p.Phe304Leu)	FPGT-TNNI3K, TNNI3K (F304L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1433379	NM_015978.3(TNNI3K):c.278G>A (p.Arg93His)	FPGT-TNNI3K, TNNI3K (R194H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1431414	NM_015978.3(TNNI3K):c.681T>C (p.Asp227=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1423033	NM_015978.3(TNNI3K):c.2053C>T (p.Pro685Ser)	FPGT-TNNI3K, TNNI3K (P786S +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +1 more	GUncertain significance
Select item 1406963	NM_015978.3(TNNI3K):c.1097T>C (p.Met366Thr)	FPGT-TNNI3K, TNNI3K (M467T +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +2 more	GUncertain significance
Select item 1377654	NM_015978.3(TNNI3K):c.380T>C (p.Ile127Thr)	FPGT-TNNI3K, TNNI3K (I228T +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +1 more	GUncertain significance
Select item 1373602	NM_015978.3(TNNI3K):c.2297G>C (p.Arg766Pro)	FPGT-TNNI3K, LRRC53 +1 more (R867P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1356605	NM_015978.3(TNNI3K):c.680A>T (p.Asp227Val)	FPGT-TNNI3K, TNNI3K (D227V +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +1 more	GUncertain significance
Select item 1308510	NM_015978.3(TNNI3K):c.2012C>T (p.Ala671Val)	FPGT-TNNI3K, TNNI3K (A671V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307802	NM_015978.3(TNNI3K):c.503del (p.Phe168fs)	FPGT-TNNI3K, TNNI3K (F168fs +1 more)	Deletion (frameshift variant)	TNNI3K-related disorder +2 more	GUncertain significance
Select item 1307801	NM_015978.3(TNNI3K):c.1561G>A (p.Val521Ile)	FPGT-TNNI3K, TNNI3K (V521I +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +1 more	GUncertain significance
Select item 1302410	NM_015978.3(TNNI3K):c.1153T>C (p.Cys385Arg)	FPGT-TNNI3K, TNNI3K (C385R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1288255	NM_015978.3(TNNI3K):c.1825+13A>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	Atrial conduction disease +1 more	GBenign
Select item 1273807	NM_015978.3(TNNI3K):c.1773-20_1773-19insC	FPGT-TNNI3K, TNNI3K	Insertion (intron variant)	Atrial conduction disease +1 more	GBenign
Select item 1262399	NM_015978.3(TNNI3K):c.2431+30A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1243463	NM_015978.3(TNNI3K):c.1027+33T>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 996116	NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr)	FPGT-TNNI3K, TNNI3K (I686T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 931564	NM_015978.3(TNNI3K):c.2205C>A (p.Asn735Lys)	FPGT-TNNI3K, LRRC53 +1 more (N735K +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial conduction disease	GUncertain significance
Select item 930852	NM_015978.3(TNNI3K):c.2157dup (p.Glu720fs)	FPGT-TNNI3K, LRRC53 +1 more (E720fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 930691	NM_015978.3(TNNI3K):c.1995C>A (p.Phe665Leu)	TNNI3K, FPGT-TNNI3K (F665L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 790334	NM_015978.3(TNNI3K):c.334-8C>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	Atrial conduction disease +1 more	GBenign
Select item 773111	NM_015978.3(TNNI3K):c.788C>T (p.Pro263Leu)	FPGT-TNNI3K, TNNI3K (P263L +1 more)	Single nucleotide variant (missense variant)	Atrial conduction disease +1 more	GBenign/Likely benign
Select item 714034	NM_015978.3(TNNI3K):c.969A>G (p.Lys323=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	Atrial conduction disease +2 more	GLikely benign
Select item 626247	NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)	FPGT-TNNI3K, LRRC53 +1 more (E768K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 590305	NM_015978.3(TNNI3K):c.333+2T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 590304	NM_015978.3(TNNI3K):c.1615A>G (p.Thr539Ala)	FPGT-TNNI3K, TNNI3K (T539A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 161447	NM_015978.3(TNNI3K):c.1577G>A (p.Gly526Asp)	FPGT-TNNI3K, TNNI3K (G526D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

ClinVar

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Links from MedGen

Items: 52