"Ambry Genetics"[submitter] AND "TUFT1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2259228	NM_020127.3(TUFT1):c.242A>G (p.Tyr81Cys)	TUFT1 (Y56C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466907	NM_020127.3(TUFT1):c.320A>C (p.Gln107Pro)	TUFT1 (Q82P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466908	NM_020127.3(TUFT1):c.321G>C (p.Gln107His)	TUFT1 (Q126H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392915	NM_020127.3(TUFT1):c.349C>T (p.Arg117Trp)	TUFT1 (R117W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280768	NM_020127.3(TUFT1):c.359T>C (p.Ile120Thr)	TUFT1 (I120T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335183	NM_020127.3(TUFT1):c.404A>G (p.Gln135Arg)	TUFT1 (Q154R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389805	NM_020127.3(TUFT1):c.437G>A (p.Gly146Asp)	TUFT1 (G121D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351634	NM_020127.3(TUFT1):c.665T>C (p.Val222Ala)	TUFT1 (V222A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2329011	NM_020127.3(TUFT1):c.674A>G (p.Lys225Arg)	TUFT1 (K244R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371047	NM_020127.3(TUFT1):c.706T>G (p.Leu236Val)	TUFT1 (L236V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228913	NM_020127.3(TUFT1):c.829C>G (p.Leu277Val)	TUFT1 (L252V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615155	NM_020127.3(TUFT1):c.899G>A (p.Arg300Gln)	TUFT1 (R300Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357460	NM_020127.3(TUFT1):c.908G>A (p.Arg303Gln)	TUFT1 (R278Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378106	NM_020127.3(TUFT1):c.961G>A (p.Ala321Thr)	TUFT1 (A296T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2293322	NM_020127.3(TUFT1):c.1085G>A (p.Arg362Gln)	TUFT1 (R362Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226559	NM_020127.3(TUFT1):c.1085G>T (p.Arg362Leu)	TUFT1 (R337L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404654	NM_020127.3(TUFT1):c.1127C>T (p.Pro376Leu)	TUFT1 (P351L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance