"PreventionGenetics, part of Exact Sciences"[submitter] AND "FPGT-TNNI - ClinVar

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Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780243	NM_015978.3(TNNI3K):c.323C>T (p.Ala108Val)	FPGT-TNNI3K, TNNI3K (A108V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2107643	NM_015978.3(TNNI3K):c.392G>T (p.Gly131Val)	FPGT-TNNI3K, TNNI3K (G232V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1423085	NM_015978.3(TNNI3K):c.420del (p.Ile140fs)	FPGT-TNNI3K, TNNI3K (I241fs +1 more)	Deletion (frameshift variant)	TNNI3K-related disorder +1 more	GUncertain significance
Select item 1599395	NM_015978.3(TNNI3K):c.426A>G (p.Thr142=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	FPGT-TNNI3K-related disorder +1 more	GBenign/Likely benign
Select item 1577290	NM_015978.3(TNNI3K):c.445-10T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1297714	NM_015978.3(TNNI3K):c.465A>G (p.Gln155=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	TNNI3K-related disorder +1 more	GBenign/Likely benign
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 1284792	NM_015978.3(TNNI3K):c.512T>C (p.Leu171Ser)	FPGT-TNNI3K, TNNI3K (L171S +1 more)	Single nucleotide variant (missense variant)	TNNI3K-related disorder +1 more	GBenign/Likely benign
Select item 726327	NM_015978.3(TNNI3K):c.762G>T (p.Leu254=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1284632	NM_015978.3(TNNI3K):c.777G>C (p.Leu259Phe)	FPGT-TNNI3K, TNNI3K (L259F +1 more)	Single nucleotide variant (missense variant)	TNNI3K-related disorder +1 more	GLikely benign
Select item 1599442	NM_015978.3(TNNI3K):c.874A>G (p.Ile292Val)	FPGT-TNNI3K, TNNI3K (I292V +1 more)	Single nucleotide variant (missense variant)	TNNI3K-related disorder +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 1906967	NM_015978.3(TNNI3K):c.1165G>C (p.Ala389Pro)	FPGT-TNNI3K, TNNI3K (A389P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1499898	NM_015978.3(TNNI3K):c.1333A>G (p.Ile445Val)	FPGT-TNNI3K, TNNI3K (I445V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1345862	NM_015978.3(TNNI3K):c.1629_1630del (p.Gly545fs)	TNNI3K, FPGT-TNNI3K (G545fs +1 more)	Deletion (frameshift variant)	TNNI3K-related disorder +1 more	GUncertain significance
Select item 1545733	NM_015978.3(TNNI3K):c.1772G>C (p.Ser591Thr)	FPGT-TNNI3K, TNNI3K (S591T +1 more)	Single nucleotide variant (missense variant)	TNNI3K-related disorder +2 more	GLikely benign
Select item 1328082	NM_015978.3(TNNI3K):c.1839A>G (p.Leu613=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	TNNI3K-related disorder +1 more	GBenign/Likely benign
Select item 725704	NM_015978.3(TNNI3K):c.1910C>T (p.Thr637Met)	FPGT-TNNI3K, TNNI3K (T637M +1 more)	Single nucleotide variant (missense variant)	TNNI3K-related disorder +1 more	GBenign
Select item 1539712	NM_015978.3(TNNI3K):c.1911G>A (p.Thr637=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1581559	NM_015978.3(TNNI3K):c.1996G>A (p.Ala666Thr)	FPGT-TNNI3K, TNNI3K (A666T +1 more)	Single nucleotide variant (missense variant)	TNNI3K-related disorder +1 more	GBenign
Select item 1587636	NM_015978.3(TNNI3K):c.2018C>A (p.Ala673Glu)	FPGT-TNNI3K, TNNI3K (A673E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 740641	NM_015978.3(TNNI3K):c.2149A>G (p.Met717Val)	FPGT-TNNI3K, LRRC53 +1 more (M717V +1 more)	Single nucleotide variant (missense variant +1 more)	TNNI3K-related disorder +1 more	GLikely benign
Select item 1553375	NM_015978.3(TNNI3K):c.2431+6T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1664312	NM_015978.3(TNNI3K):c.2449A>G (p.Met817Val)	FPGT-TNNI3K, TNNI3K (M817V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1634968	NM_015978.3(TNNI3K):c.2476C>G (p.Arg826Gly)	FPGT-TNNI3K, TNNI3K (R826G +1 more)	Single nucleotide variant (missense variant)	TNNI3K-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3050439	NM_015978.3(TNNI3K):c.2496G>A (p.Glu832=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	FPGT-TNNI3K-related disorder	GLikely benign

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Items: 27