Related gene-specific medical variations for Gene (Select 140290) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325049	NM_144659.7(TCP10L):c.15A>C (p.Gln5His)	CFAP298-TCP10L, TCP10L (Q5H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325048	NM_144659.7(TCP10L):c.331C>G (p.Pro111Ala)	CFAP298-TCP10L, TCP10L (P285A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325047	NM_144659.7(TCP10L):c.227G>A (p.Arg76Gln)	CFAP298-TCP10L, TCP10L (R76Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175336	NM_144659.7(TCP10L):c.635G>C (p.Arg212Pro)	CFAP298-TCP10L, TCP10L (R212P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175335	NM_144659.7(TCP10L):c.4C>G (p.Leu2Val)	CFAP298-TCP10L, TCP10L (L2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175333	NM_144659.7(TCP10L):c.246G>C (p.Leu82Phe)	CFAP298-TCP10L, TCP10L (L256F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536836	NM_144659.7(TCP10L):c.220A>G (p.Lys74Glu)	CFAP298-TCP10L, TCP10L (K74E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465529	NM_144659.7(TCP10L):c.116C>T (p.Thr39Met)	CFAP298-TCP10L, TCP10L (T39M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463689	NM_144659.7(TCP10L):c.425A>T (p.Tyr142Phe)	CFAP298-TCP10L, TCP10L (Y316F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454597	NM_144659.7(TCP10L):c.580C>T (p.Arg194Cys)	CFAP298-TCP10L, TCP10L (R194C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299462	NM_144659.7(TCP10L):c.169C>T (p.Leu57Phe)	CFAP298-TCP10L, TCP10L (L231F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298862	NM_144659.7(TCP10L):c.112C>G (p.Leu38Val)	CFAP298-TCP10L, TCP10L (L38V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724391	NM_144659.7(TCP10L):c.641dup (p.Val215fs)	CFAP298-TCP10L, TCP10L (V215fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GBenign