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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135592	NM_033637.4(BTRC):c.76G>T (p.Gly26Cys)	BTRC (G26C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616915	NM_033637.4(BTRC):c.77G>A (p.Gly26Asp)	BTRC (G26D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244329	NM_033637.4(BTRC):c.179G>A (p.Cys60Tyr)	BTRC (C24Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607686	NM_033637.4(BTRC):c.193C>A (p.Pro65Thr)	BTRC (P29T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2085525	NM_033637.4(BTRC):c.256C>T (p.Leu86Phe)	BTRC (L60F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3135589	NM_033637.4(BTRC):c.361C>T (p.Pro121Ser)	BTRC (P85S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135590	NM_033637.4(BTRC):c.526T>A (p.Leu176Met)	BTRC (L140M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135591	NM_033637.4(BTRC):c.543A>G (p.Ile181Met)	BTRC (I145M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214268	NM_033637.4(BTRC):c.752A>C (p.Tyr251Ser)	BTRC (Y215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386836	NM_033637.4(BTRC):c.896G>A (p.Arg299Gln)	BTRC (R273Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618839	NM_033637.4(BTRC):c.940C>G (p.Gln314Glu)	BTRC (Q278E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530755	NM_033637.4(BTRC):c.986A>G (p.Asp329Gly)	BTRC (D329G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135584	NM_033637.4(BTRC):c.1178A>C (p.Asn393Thr)	BTRC (N367T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541871	NM_033637.4(BTRC):c.1252C>T (p.Leu418Phe)	BTRC (L392F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135585	NM_033637.4(BTRC):c.1256G>A (p.Arg419Gln)	BTRC (R393Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135586	NM_033637.4(BTRC):c.1342A>G (p.Ile448Val)	BTRC (I448V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525567	NM_033637.4(BTRC):c.1349T>G (p.Val450Gly)	BTRC (V424G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246435	NM_033637.4(BTRC):c.1358C>T (p.Thr453Ile)	BTRC (T453I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348419	NM_033637.4(BTRC):c.1429A>G (p.Arg477Gly)	BTRC (R441G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135587	NM_033637.4(BTRC):c.1630G>C (p.Gly544Arg)	BTRC (G518R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517305	NM_033637.4(BTRC):c.1646G>C (p.Arg549Pro)	BTRC (R513P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274501	NM_033637.4(BTRC):c.1646G>A (p.Arg549Gln)	BTRC (R549Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135588	NM_033637.4(BTRC):c.1774C>T (p.Pro592Ser)	BTRC (P566S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483062	NM_033637.4(BTRC):c.1778C>G (p.Pro593Arg)	BTRC (P557R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312657	NM_033637.4(BTRC):c.1778C>T (p.Pro593Leu)	BTRC (P557L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25