"Clinical Genetics, Academic Medical Center"[submitter] AND "TNNI3K"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1284414	NM_015978.3(TNNI3K):c.656T>C (p.Leu219Ser)	FPGT-TNNI3K, TNNI3K (L219S +1 more)	Single nucleotide variant (missense variant)	not provided	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 1299893	NM_015978.3(TNNI3K):c.1349C>T (p.Ala450Val)	FPGT-TNNI3K, TNNI3K (A450V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297546	NM_015978.3(TNNI3K):c.1722G>C (p.Met574Ile)	TNNI3K, FPGT-TNNI3K (M574I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1284579	NM_001382280.1(LRRC53):c.-26-8712G>A	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284743	NM_015978.3(TNNI3K):c.2225C>T (p.Pro742Leu)	FPGT-TNNI3K, LRRC53 +1 more (P742L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284397	NM_015978.3(TNNI3K):c.2254C>T (p.Arg752Trp)	FPGT-TNNI3K, LRRC53 +1 more (R752W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance