BTNL2[gene] - ClinVar

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Items: 34

	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 3135551	NM_001304561.2(BTNL2):c.1360G>C (p.Glu454Gln)	BTNL2, TSBP1-AS1 (E454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384584	NM_001304561.2(BTNL2):c.1330G>A (p.Glu444Lys)	BTNL2, TSBP1-AS1 (E444K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366239	NM_001304561.2(BTNL2):c.1288G>A (p.Ala430Thr)	BTNL2, TSBP1-AS1 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791141	NM_001304561.2(BTNL2):c.1202C>T (p.Thr401Met)	BTNL2, TSBP1-AS1 (T401M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2320463	NM_001304561.2(BTNL2):c.1151A>G (p.Asp384Gly)	BTNL2, TSBP1-AS1 (D384G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4649	NM_001304561.2(BTNL2):c.1078= (p.Ser360=)	BTNL2, TSBP1-AS1	Single nucleotide variant (no sequence alteration)	Sarcoidosis, susceptibility to, 2	Grisk factor
Select item 3135550	NM_001304561.2(BTNL2):c.1049A>C (p.Gln350Pro)	BTNL2, TSBP1-AS1 (Q350P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468707	NM_001304561.2(BTNL2):c.1018C>T (p.Arg340Cys)	BTNL2, TSBP1-AS1 (R340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552449	NM_001304561.2(BTNL2):c.997C>A (p.Pro333Thr)	BTNL2, TSBP1-AS1 (P333T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292866	NM_001304561.2(BTNL2):c.916G>A (p.Ala306Thr)	BTNL2, TSBP1-AS1 (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392032	NM_001304561.2(BTNL2):c.757C>G (p.Gln253Glu)	BTNL2, TSBP1-AS1 (Q253E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688690	NM_001304561.2(BTNL2):c.709+6T>C	BTNL2, TSBP1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2617343	NM_001304561.2(BTNL2):c.692C>T (p.Ser231Leu)	BTNL2, TSBP1-AS1 (S231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768075	NM_001304561.2(BTNL2):c.562G>A (p.Val188Met)	BTNL2, TSBP1-AS1 (V188M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2475263	NM_001304561.2(BTNL2):c.515A>G (p.Glu172Gly)	BTNL2, TSBP1-AS1 (E172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271189	NM_001304561.2(BTNL2):c.451del (p.His151fs)	BTNL2, TSBP1-AS1 (H151fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2243198	NM_001304561.2(BTNL2):c.362A>G (p.Gln121Arg)	BTNL2, TSBP1-AS1 (Q121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135553	NM_001304561.2(BTNL2):c.346C>T (p.Pro116Ser)	BTNL2, TSBP1-AS1 (P116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135552	NM_001304561.2(BTNL2):c.215C>A (p.Thr72Lys)	BTNL2, TSBP1-AS1 (T72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595040	NM_001304561.2(BTNL2):c.200G>A (p.Arg67His)	BTNL2, TSBP1-AS1 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135549	NM_001304561.2(BTNL2):c.101C>G (p.Pro34Arg)	BTNL2, TSBP1-AS1 (P34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677315	NM_001304561.2(BTNL2):c.80-284C>G	BTNL2, TSBP1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2278386	NM_001304561.2(BTNL2):c.40G>T (p.Ala14Ser)	BTNL2, TSBP1-AS1 (A14S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135555	NM_001304561.2(BTNL2):c.38T>G (p.Val13Gly)	BTNL2, TSBP1-AS1 (V13G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 731754	NM_001304561.2(BTNL2):c.36A>G (p.Ala12=)	BTNL2, TSBP1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	HLA-DRA, NOTCH4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
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
Select item 221340	Single allele	BTNL2, HLA-DQA1 +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 34