"Ambry Genetics"[submitter] AND "BTN3A1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2334583	NM_007048.6(BTN3A1):c.90G>C (p.Gln30His)	BTN3A1 (Q30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353673	NM_007048.6(BTN3A1):c.269G>A (p.Ser90Asn)	BTN3A1 (S90N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524980	NM_007048.6(BTN3A1):c.271G>A (p.Ala91Thr)	BTN3A1 (A91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529118	NM_007048.6(BTN3A1):c.383T>C (p.Phe128Ser)	BTN3A1 (F128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607211	NM_007048.6(BTN3A1):c.562C>A (p.Pro188Thr)	BTN3A1 (P188T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460849	NM_007048.6(BTN3A1):c.578C>G (p.Pro193Arg)	BTN3A1 (P193R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135532	NM_007048.6(BTN3A1):c.591C>A (p.Asp197Glu)	BTN3A1 (D197E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219720	NM_007048.6(BTN3A1):c.737A>G (p.Gln246Arg)	BTN3A1 (Q194R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614961	NM_007048.6(BTN3A1):c.751G>T (p.Ala251Ser)	BTN3A1 (A199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370582	NM_007048.6(BTN3A1):c.788T>C (p.Leu263Pro)	BTN3A1 (L211P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257043	NM_007048.6(BTN3A1):c.814C>A (p.Gln272Lys)	BTN3A1 (Q272K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384013	NM_007048.6(BTN3A1):c.836C>G (p.Thr279Ser)	BTN3A1 (T279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135533	NM_007048.6(BTN3A1):c.880G>T (p.Ala294Ser)	BTN3A1 (A242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474649	NM_007048.6(BTN3A1):c.1124C>T (p.Pro375Leu)	BTN3A1 (P323L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339982	NM_007048.6(BTN3A1):c.1195G>A (p.Val399Met)	BTN3A1 (V399M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366964	NM_007048.6(BTN3A1):c.1213A>G (p.Lys405Glu)	BTN3A1 (K353E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474522	NM_007048.6(BTN3A1):c.1253G>A (p.Arg418Lys)	BTN3A1 (R366K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2378386	NM_007048.6(BTN3A1):c.1327A>G (p.Thr443Ala)	BTN3A1 (T391A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135527	NM_007048.6(BTN3A1):c.1336G>A (p.Glu446Lys)	BTN3A1 (E394K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135528	NM_007048.6(BTN3A1):c.1342A>G (p.Arg448Gly)	BTN3A1 (R448G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537695	NM_007048.6(BTN3A1):c.1445T>C (p.Ile482Thr)	BTN3A1 (I482T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468746	NM_007048.6(BTN3A1):c.1462G>A (p.Val488Ile)	BTN3A1 (V436I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135531	NM_007048.6(BTN3A1):c.1465T>C (p.Ser489Pro)	BTN3A1 (S437P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23