"Ambry Genetics"[submitter] AND "BTN2A1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2292790	NM_007049.5(BTN2A1):c.24C>A (p.His8Gln)	BTN2A1 (H8Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372596	NM_007049.5(BTN2A1):c.31C>T (p.Arg11Trp)	BTN2A1 (R11W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595771	NM_007049.5(BTN2A1):c.181G>A (p.Asp61Asn)	BTN2A1 (D61N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208691	NM_007049.5(BTN2A1):c.194G>A (p.Arg65Gln)	BTN2A1 (R4Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367129	NM_007049.5(BTN2A1):c.238G>T (p.Gly80Cys)	BTN2A1 (G80C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382011	NM_007049.5(BTN2A1):c.320G>T (p.Ser107Ile)	BTN2A1 (S107I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474253	NM_007049.5(BTN2A1):c.389G>A (p.Gly130Asp)	BTN2A1 (G130D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456952	NM_007049.5(BTN2A1):c.400G>A (p.Asp134Asn)	BTN2A1 (D134N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403049	NM_007049.5(BTN2A1):c.466C>T (p.His156Tyr)	BTN2A1 (H95Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302680	NM_007049.5(BTN2A1):c.510G>T (p.Trp170Cys)	BTN2A1 (W109C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342805	NM_007049.5(BTN2A1):c.557C>T (p.Ala186Val)	BTN2A1 (A186V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521939	NM_007049.5(BTN2A1):c.581T>C (p.Met194Thr)	BTN2A1 (M133T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2212791	NM_007049.5(BTN2A1):c.595G>A (p.Gly199Ser)	BTN2A1 (G199S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209213	NM_007049.5(BTN2A1):c.651G>A (p.Met217Ile)	BTN2A1 (M217I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593545	NM_007049.5(BTN2A1):c.679G>A (p.Gly227Ser)	BTN2A1 (G166S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522300	NM_007049.5(BTN2A1):c.688A>G (p.Lys230Glu)	BTN2A1 (K230E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373179	NM_007049.5(BTN2A1):c.818A>C (p.Gln273Pro)	BTN2A1 (Q212P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487859	NM_007049.5(BTN2A1):c.830A>G (p.Lys277Arg)	BTN2A1 (K216R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600000	NM_007049.5(BTN2A1):c.880C>G (p.Leu294Val)	BTN2A1 (L233V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2465825	NM_007049.5(BTN2A1):c.901C>T (p.Arg301Cys)	BTN2A1 (R240C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613896	NM_007049.5(BTN2A1):c.968C>T (p.Thr323Ile)	BTN2A1, LOC126859629 (T262I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367128	NM_007049.5(BTN2A1):c.1123G>A (p.Val375Ile)	BTN2A1 (V375I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269290	NM_007049.5(BTN2A1):c.1143C>G (p.Phe381Leu)	BTN2A1 (F320L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280573	NM_007049.5(BTN2A1):c.1144G>A (p.Ala382Thr)	BTN2A1 (A382T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2320896	NM_007049.5(BTN2A1):c.1199T>A (p.Val400Glu)	BTN2A1 (V400E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623903	NM_007049.5(BTN2A1):c.1295G>A (p.Arg432Gln)	BTN2A1 (R371Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378578	NM_007049.5(BTN2A1):c.1354G>A (p.Val452Ile)	BTN2A1 (V391I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2562334	NM_007049.5(BTN2A1):c.1369G>A (p.Glu457Lys)	BTN2A1 (E457K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2455821	NM_007049.5(BTN2A1):c.1402G>A (p.Asp468Asn)	BTN2A1 (D468N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547919	NM_007049.5(BTN2A1):c.1457C>A (p.Pro486His)	BTN2A1 (P486H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2306446	NM_007049.5(BTN2A1):c.1485C>G (p.Ser495Arg)	BTN2A1 (S434R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 31