ClinVar for Gene (Select 11118) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262064	NM_007047.5(BTN3A2):c.281G>A (p.Arg94Gln)	BTN3A2 (R71Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262063	NM_007047.5(BTN3A2):c.551G>A (p.Gly184Glu)	BTN3A2 (G161E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262062	NM_007047.5(BTN3A2):c.256G>A (p.Glu86Lys)	BTN3A2 (E63K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135539	NM_007047.5(BTN3A2):c.980C>G (p.Ser327Trp)	BTN3A2 (S304W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135537	NM_007047.5(BTN3A2):c.797C>T (p.Ala266Val)	BTN3A2 (A224V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135536	NM_007047.5(BTN3A2):c.745A>G (p.Ile249Val)	BTN3A2 (I226V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135535	NM_007047.5(BTN3A2):c.733G>A (p.Ala245Thr)	BTN3A2 (A203T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135534	NM_007047.5(BTN3A2):c.545C>A (p.Ala182Asp)	BTN3A2 (A140D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592655	NM_007047.5(BTN3A2):c.293C>T (p.Ser98Leu)	BTN3A2 (S56L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556922	NM_007047.5(BTN3A2):c.662T>A (p.Ile221Asn)	BTN3A2 (I221N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541966	NM_007047.5(BTN3A2):c.166C>G (p.Pro56Ala)	BTN3A2 (P14A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532345	NM_007047.5(BTN3A2):c.362G>A (p.Ser121Asn)	BTN3A2 (S121N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485114	NM_007047.5(BTN3A2):c.350C>T (p.Thr117Ile)	BTN3A2 (T94I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465453	NM_007047.5(BTN3A2):c.790G>A (p.Ala264Thr)	BTN3A2 (A241T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350950	NM_007047.5(BTN3A2):c.232G>A (p.Val78Met)	BTN3A2 (V36M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325146	NM_007047.5(BTN3A2):c.494A>C (p.Glu165Ala)	BTN3A2 (E123A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297506	NM_007047.5(BTN3A2):c.16T>A (p.Ser6Thr)	BTN3A2 (S6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274940	NM_007047.5(BTN3A2):c.170C>A (p.Thr57Asn)	BTN3A2 (T57N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271760	NM_007047.5(BTN3A2):c.142G>A (p.Ala48Thr)	BTN3A2 (A48T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220871	NM_007047.5(BTN3A2):c.682G>A (p.Gly228Ser)	BTN3A2 (G186S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1238754	NM_007047.5(BTN3A2):c.715+2T>G	BTN3A2	Single nucleotide variant (splice donor variant)	not provided	GBenign
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 770547	NM_007047.5(BTN3A2):c.231C>T (p.Asn77=)	BTN3A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768070	NM_007047.5(BTN3A2):c.981G>A (p.Ser327=)	BTN3A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221451	GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4	H3C4, H3C6 +24 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 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

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Links from Gene

Items: 36