ClinVar for Gene (Select 10384) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135548	NM_006994.5(BTN3A3):c.970G>A (p.Glu324Lys)	BTN3A3 (E114K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135547	NM_006994.5(BTN3A3):c.679C>A (p.Leu227Ile)	BTN3A3 (L227I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135546	NM_006994.5(BTN3A3):c.523C>T (p.Pro175Ser)	BTN3A3 (P175S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135545	NM_006994.5(BTN3A3):c.44A>G (p.His15Arg)	BTN3A3 (H15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135544	NM_006994.5(BTN3A3):c.167C>T (p.Pro56Leu)	BTN3A3 (P14L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135543	NM_006994.5(BTN3A3):c.1645G>A (p.Ala549Thr)	BTN3A3 (A549T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135542	NM_006994.5(BTN3A3):c.1403A>C (p.Glu468Ala)	BTN3A3 (E468A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135541	NM_006994.5(BTN3A3):c.1219T>C (p.Trp407Arg)	BTN3A3 (W407R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135540	NM_006994.5(BTN3A3):c.1142G>A (p.Arg381His)	BTN3A3 (R171H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656312	NM_006994.5(BTN3A3):c.1327C>T (p.Arg443Trp)	BTN3A3 (R233W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656311	NM_006994.5(BTN3A3):c.204G>A (p.Val68=)	BTN3A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617254	NM_006994.5(BTN3A3):c.1487A>G (p.Tyr496Cys)	BTN3A3 (Y286C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615246	NM_006994.5(BTN3A3):c.541G>A (p.Asp181Asn)	BTN3A3 (D139N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2610632	NM_006994.5(BTN3A3):c.1449C>T (p.Ile483=)	BTN3A3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2599589	NM_006994.5(BTN3A3):c.674C>T (p.Ser225Phe)	BTN3A3 (S183F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540641	NM_006994.5(BTN3A3):c.749C>T (p.Ala250Val)	BTN3A3 (A208V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528086	NM_006994.5(BTN3A3):c.1676A>C (p.His559Pro)	BTN3A3 (H349P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526206	NM_006994.5(BTN3A3):c.1532T>C (p.Ile511Thr)	BTN3A3 (I462T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521761	NM_006994.5(BTN3A3):c.331C>T (p.Leu111Phe)	BTN3A3 (L69F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507951	NM_006994.5(BTN3A3):c.14G>A (p.Ser5Asn)	BTN3A3 (S5N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467224	NM_006994.5(BTN3A3):c.239C>T (p.Ala80Val)	BTN3A3 (A38V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462034	NM_006994.5(BTN3A3):c.1279C>A (p.Pro427Thr)	BTN3A3 (P378T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411063	NM_006994.5(BTN3A3):c.1105C>T (p.Arg369Trp)	BTN3A3 (R159W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397046	NM_006994.5(BTN3A3):c.718C>G (p.Pro240Ala)	BTN3A3 (P240A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394121	NM_006994.5(BTN3A3):c.1519A>G (p.Thr507Ala)	BTN3A3 (T458A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374332	NM_006994.5(BTN3A3):c.1209C>A (p.Asp403Glu)	BTN3A3 (D354E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373553	NM_006994.5(BTN3A3):c.325G>C (p.Ala109Pro)	BTN3A3 (A109P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347829	NM_006994.5(BTN3A3):c.709A>G (p.Ile237Val)	BTN3A3 (I237V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334510	NM_006994.5(BTN3A3):c.1465G>T (p.Ala489Ser)	BTN3A3 (A440S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324872	NM_006994.5(BTN3A3):c.1712A>G (p.Asn571Ser)	BTN3A3 (N361S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321424	NM_006994.5(BTN3A3):c.1466C>A (p.Ala489Asp)	BTN3A3 (A279D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309092	NM_006994.5(BTN3A3):c.1384G>A (p.Gly462Arg)	BTN3A3 (G252R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301399	NM_006994.5(BTN3A3):c.528A>C (p.Gln176His)	BTN3A3 (Q134H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299824	NM_006994.5(BTN3A3):c.203T>G (p.Val68Gly)	BTN3A3 (V26G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292791	NM_006994.5(BTN3A3):c.353C>T (p.Ala118Val)	BTN3A3 (A118V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276770	NM_006994.5(BTN3A3):c.1369C>T (p.Pro457Ser)	BTN3A3 (P247S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232487	NM_006994.5(BTN3A3):c.1352A>G (p.Asn451Ser)	BTN3A3 (N402S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230457	NM_006994.5(BTN3A3):c.577C>A (p.Pro193Thr)	BTN3A3 (P151T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208058	NM_006994.5(BTN3A3):c.1117G>C (p.Asp373His)	BTN3A3 (D373H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207451	NM_006994.5(BTN3A3):c.301C>T (p.Arg101Trp)	BTN3A3 (R101W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205690	NM_006994.5(BTN3A3):c.1078A>G (p.Arg360Gly)	BTN3A3 (R311G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 979706	GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	H2BC7, H2BC8 +34 more	Copy number gain	not provided	GUncertain significance
Select item 979555	GRCh37/hg19 6p22.2(chr6:26345595-26601092)x3	BTN3A3, BTN2A2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814805	GRCh37/hg19 6p22.2(chr6:26256525-26536884)x3	TRX-CAT1-2, BTN3A1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688965	GRCh37/hg19 6p22.2(chr6:26366119-26444945)x1	BTN2A2, BTN3A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688552	GRCh37/hg19 6p22.2(chr6:26366119-26444946)x1	BTN2A2, BTN3A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563168	GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3	H2BC6, H3C4 +26 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Links from Gene

Items: 53