BTNL8[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 2226861	NM_001040462.3(BTNL8):c.148G>C (p.Ala50Pro)	BTNL8 (A50P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262080	NM_001040462.3(BTNL8):c.169A>G (p.Arg57Gly)	BTNL8 (R57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398526	NM_001040462.3(BTNL8):c.179T>C (p.Phe60Ser)	BTNL8 (F60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619634	NM_001040462.3(BTNL8):c.235C>T (p.Pro79Ser)	BTNL8 (P79S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466546	NM_001040462.3(BTNL8):c.278C>T (p.Ala93Val)	BTNL8 (A93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613211	NM_001040462.3(BTNL8):c.286C>T (p.Arg96Cys)	BTNL8 (R96C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542221	NM_001040462.3(BTNL8):c.484C>G (p.Arg162Gly)	BTNL8 (R162G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550662	NM_001040462.3(BTNL8):c.520G>C (p.Asp174His)	BTNL8 (D49H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386389	NM_001040462.3(BTNL8):c.536C>T (p.Ser179Phe)	BTNL8 (S63F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390795	NM_001040462.3(BTNL8):c.554T>G (p.Met185Arg)	BTNL8 (M69R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569273	NM_001040462.3(BTNL8):c.565T>G (p.Phe189Val)	BTNL8 (F5V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521109	NM_001040462.3(BTNL8):c.604G>C (p.Gly202Arg)	BTNL8 (G18R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554475	NM_001040462.3(BTNL8):c.626G>A (p.Arg209Gln)	BTNL8 (R25Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364280	NM_001040462.3(BTNL8):c.661G>A (p.Val221Ile)	BTNL8 (V105I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269159	NM_001040462.3(BTNL8):c.688C>T (p.Pro230Ser)	BTNL8 (P46S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613212	NM_001040462.3(BTNL8):c.692T>C (p.Ile231Thr)	BTNL8 (I106T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396089	NM_001040462.3(BTNL8):c.728T>G (p.Leu243Arg)	BTNL8 (L243R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656160	NM_001040462.3(BTNL8):c.801G>A (p.Ala267=)	BTNL8 (G311R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2590006	NM_001040462.3(BTNL8):c.887C>T (p.Thr296Met)	BTNL8 (T180M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380416	NM_001040462.3(BTNL8):c.1003A>G (p.Ser335Gly)	BTNL8, LOC126807633 (S151G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477960	NM_001040462.3(BTNL8):c.1039G>A (p.Gly347Arg)	BTNL8, LOC126807633 (G347R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352171	NM_001040462.3(BTNL8):c.1063G>A (p.Val355Met)	BTNL8, LOC126807633 (V230M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302862	NM_001040462.3(BTNL8):c.1105G>A (p.Val369Met)	BTNL8, LOC126807633 (V244M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412312	NM_001040462.3(BTNL8):c.1148A>G (p.Asn383Ser)	BTNL8, LOC126807633 (N258S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262081	NM_001040462.3(BTNL8):c.1232T>A (p.Leu411Gln)	BTNL8, LOC126807633 (L295Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476758	NM_001040462.3(BTNL8):c.1249A>G (p.Thr417Ala)	BTNL8, LOC126807633 (T233A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234033	NM_001040462.3(BTNL8):c.1366C>T (p.Pro456Ser)	BTNL8, LOC126807633 (P272S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234228	NM_001040462.3(BTNL8):c.1370T>C (p.Ile457Thr)	BTNL8, LOC126807633 (I332T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236851	NM_001040462.3(BTNL8):c.1387A>T (p.Thr463Ser)	BTNL8, LOC126807633 (T279S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369916	NM_001040462.3(BTNL8):c.1423G>A (p.Ala475Thr)	BTNL8, LOC126807633 (A350T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359477	NM_001040462.3(BTNL8):c.1475C>T (p.Thr492Met)	BTNL8, LOC126807633 (T367M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513658	NM_001040462.3(BTNL8):c.1499T>G (p.Met500Arg)	BTNL8, LOC126807633 (M375R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1808159	GRCh37/hg19 5q35.3(chr5:179922498-180608605)x3	BTNL3, BTNL8 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807832	GRCh37/hg19 5q35.3(chr5:180148276-180719789)x1	BTNL3, BTNL8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979542	GRCh37/hg19 5q35.3(chr5:180064955-180719789)x3	TRIM7, RACK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814766	GRCh37/hg19 5q35.3(chr5:180277974-180491461)x3	BTNL9, ZFP62 +2 more	Copy number gain	not provided	GLikely benign
Select item 814765	GRCh37/hg19 5q35.3(chr5:180277974-180579560)x3	BTNL3, TRV-CAC1-2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395054	GRCh37/hg19 5q35.3(chr5:180375011-180474868)x3	BTNL3, BTNL8 +1 more	Copy number gain	See cases	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 65