Related gene-specific medical variations for Gene (Select 5756) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185081	NM_002822.5(TWF1):c.865A>G (p.Met289Val)	TMEM117, TWF1 (M296V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185080	NM_002822.5(TWF1):c.806G>A (p.Arg269Gln)	TMEM117, TWF1 (R276Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185078	NM_002822.5(TWF1):c.484-752A>G	TMEM117, TWF1 (S162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185077	NM_002822.5(TWF1):c.460C>A (p.Leu154Ile)	TMEM117, TWF1 (L154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520062	NM_002822.5(TWF1):c.419C>T (p.Ser140Leu)	TMEM117, TWF1 (S140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519018	NM_002822.5(TWF1):c.439C>G (p.Leu147Val)	TMEM117, TWF1 (L147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339645	NM_002822.5(TWF1):c.854G>A (p.Arg285Lys)	TMEM117, TWF1 (R285K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324290	NM_002822.5(TWF1):c.496G>A (p.Val166Met)	TMEM117, TWF1 (V166M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316402	NM_002822.5(TWF1):c.222T>G (p.Asp74Glu)	TMEM117, TWF1 (D74E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307830	NM_002822.5(TWF1):c.716T>G (p.Phe239Cys)	TMEM117, TWF1 (F246C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284130	NM_002822.5(TWF1):c.653C>A (p.Thr218Lys)	TMEM117, TWF1 (T218K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235210	NM_002822.5(TWF1):c.407A>C (p.Lys136Thr)	TMEM117, TWF1 (K136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227065	NM_002822.5(TWF1):c.463C>G (p.Arg155Gly)	TMEM117, TWF1 (R155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225570	NM_002822.5(TWF1):c.833G>A (p.Arg278His)	TMEM117, TWF1 (R285H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221996	NM_002822.5(TWF1):c.848T>C (p.Val283Ala)	TMEM117, TWF1 (V283A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance