BTN3A1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 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
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 770726	NM_007048.6(BTN3A1):c.680T>A (p.Leu227His)	BTN3A1 (L227H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 722243	NM_007048.6(BTN3A1):c.1146T>A (p.Tyr382Ter)	BTN3A1 (Y330* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
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 (3 prime UTR 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
Select item 730259	NM_007048.6(BTN3A1):c.1527T>C (p.Thr509=)	BTN3A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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

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Items: 38