"Ambry Genetics"[submitter] AND "TPRX1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2404805	NM_001397346.1(TPRX1):c.1298G>A (p.Gly433Glu)	TPRX1 (G433E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556568	NM_001397346.1(TPRX1):c.1194C>G (p.Phe398Leu)	TPRX1 (F440L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331968	NM_001397346.1(TPRX1):c.1189G>A (p.Asp397Asn)	TPRX1 (D439N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476929	NM_001397346.1(TPRX1):c.1180G>A (p.Asp394Asn)	TPRX1 (D394N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273695	NM_001397346.1(TPRX1):c.1148C>T (p.Pro383Leu)	TPRX1 (P383L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236014	NM_001397346.1(TPRX1):c.1040G>A (p.Arg347Gln)	TPRX1 (R347Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2590729	NM_001397346.1(TPRX1):c.1039C>T (p.Arg347Trp)	TPRX1 (R347W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468044	NM_001397346.1(TPRX1):c.968C>T (p.Pro323Leu)	TPRX1 (P365L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467226	NM_001397346.1(TPRX1):c.958A>G (p.Ile320Val)	TPRX1 (I320V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243700	NM_001397346.1(TPRX1):c.859T>C (p.Ser287Pro)	TPRX1 (S287P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343534	NM_001397346.1(TPRX1):c.845T>A (p.Ile282Asn)	TPRX1 (I324N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532580	NM_001397346.1(TPRX1):c.830C>G (p.Pro277Arg)	TPRX1 (P277R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360249	NM_001397346.1(TPRX1):c.830C>T (p.Pro277Leu)	TPRX1 (P319L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371836	NM_001397346.1(TPRX1):c.821A>T (p.Asn274Ile)	TPRX1 (N316I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2375128	NM_001397346.1(TPRX1):c.770C>G (p.Pro257Arg)	TPRX1 (P299R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569772	NM_001397346.1(TPRX1):c.767T>G (p.Val256Gly)	TPRX1 (V256G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246675	NM_001397346.1(TPRX1):c.757C>T (p.Pro253Ser)	TPRX1 (P253S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539145	NM_001397346.1(TPRX1):c.755G>T (p.Gly252Val)	TPRX1 (G294V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539144	NM_001397346.1(TPRX1):c.751C>T (p.Pro251Ser)	TPRX1 (P251S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366767	NM_001397346.1(TPRX1):c.713A>T (p.Asn238Ile)	TPRX1 (N238I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266657	NM_001397346.1(TPRX1):c.538G>C (p.Ala180Pro)	TPRX1 (A180P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328825	NM_001397346.1(TPRX1):c.488A>G (p.Gln163Arg)	TPRX1 (Q163R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242772	NM_001397346.1(TPRX1):c.458C>T (p.Pro153Leu)	TPRX1 (P153L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264467	NM_001397346.1(TPRX1):c.451C>T (p.Pro151Ser)	TPRX1 (P193S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361244	NM_001397346.1(TPRX1):c.314C>G (p.Ala105Gly)	TPRX1 (A105G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353559	NM_001397346.1(TPRX1):c.202T>A (p.Phe68Ile)	TPRX1 (F110I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26