11120[Gene ID] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	LOC129996111, LOC129996112 +344 more	Copy number gain	See cases	GUncertain significance
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 785160	NM_007049.5(BTN2A1):c.1008C>T (p.Thr336=)	BTN2A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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
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 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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 42