ClinVar for Gene (Select 10917) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262079	NM_197975.3(BTNL3):c.977C>T (p.Thr326Ile)	BTNL3 (T326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262078	NM_197975.3(BTNL3):c.1198C>A (p.Pro400Thr)	BTNL3 (P400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262077	NM_197975.3(BTNL3):c.1308G>C (p.Gln436His)	BTNL3 (Q436H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262076	NM_197975.3(BTNL3):c.217T>C (p.Trp73Arg)	BTNL3 (W73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135564	NM_197975.3(BTNL3):c.887C>T (p.Thr296Met)	BTNL3 (T296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135563	NM_197975.3(BTNL3):c.712A>G (p.Ile238Val)	BTNL3 (I238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135562	NM_197975.3(BTNL3):c.616T>C (p.Cys206Arg)	BTNL3 (C206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135561	NM_197975.3(BTNL3):c.371A>C (p.Glu124Ala)	BTNL3 (E124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135559	NM_197975.3(BTNL3):c.122C>T (p.Ser41Phe)	BTNL3 (S41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135558	NM_197975.3(BTNL3):c.1198C>T (p.Pro400Ser)	BTNL3 (P400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135557	NM_197975.3(BTNL3):c.1198C>G (p.Pro400Ala)	BTNL3 (P400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135556	NM_197975.3(BTNL3):c.1039G>A (p.Val347Met)	BTNL3 (V347M)	Single nucleotide variant (missense variant)	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 2595548	NM_197975.3(BTNL3):c.1349A>G (p.Tyr450Cys)	BTNL3 (Y450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590411	NM_197975.3(BTNL3):c.933T>G (p.His311Gln)	BTNL3 (H311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590410	NM_197975.3(BTNL3):c.931C>G (p.His311Asp)	BTNL3 (H311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588013	NM_197975.3(BTNL3):c.1343C>T (p.Ala448Val)	BTNL3 (A448V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537131	NM_197975.3(BTNL3):c.756G>A (p.Met252Ile)	BTNL3 (M252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520872	NM_197975.3(BTNL3):c.1075C>T (p.Arg359Trp)	BTNL3 (R359W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519413	NM_197975.3(BTNL3):c.161G>A (p.Arg54Gln)	BTNL3 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468147	NM_197975.3(BTNL3):c.980G>A (p.Arg327Lys)	BTNL3 (R327K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458260	NM_197975.3(BTNL3):c.908T>A (p.Val303Asp)	BTNL3 (V303D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379512	NM_197975.3(BTNL3):c.1076G>A (p.Arg359Gln)	BTNL3 (R359Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352784	NM_197975.3(BTNL3):c.389G>A (p.Arg130Gln)	BTNL3 (R130Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345920	NM_197975.3(BTNL3):c.1223G>A (p.Gly408Glu)	BTNL3 (G408E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338526	NM_197975.3(BTNL3):c.1242G>C (p.Glu414Asp)	BTNL3 (E414D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325269	NM_197975.3(BTNL3):c.334T>C (p.Tyr112His)	BTNL3 (Y112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281016	NM_197975.3(BTNL3):c.851G>A (p.Arg284Gln)	BTNL3 (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276713	NM_197975.3(BTNL3):c.160C>T (p.Arg54Trp)	BTNL3 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262903	NM_197975.3(BTNL3):c.71C>A (p.Pro24Gln)	BTNL3 (P24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238201	NM_197975.3(BTNL3):c.109G>A (p.Val37Met)	BTNL3 (V37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226755	NM_197975.3(BTNL3):c.1038C>A (p.Asp346Glu)	BTNL3 (D346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218292	NM_197975.3(BTNL3):c.907G>A (p.Val303Ile)	BTNL3 (V303I)	Single nucleotide variant (missense variant)	not specified	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 792026	NM_197975.3(BTNL3):c.608G>C (p.Ser203Thr)	BTNL3 (S203T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781741	NM_197975.3(BTNL3):c.426C>T (p.Ile142=)	BTNL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781740	NM_197975.3(BTNL3):c.33C>G (p.Phe11Leu)	BTNL3 (F11L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738102	NM_197975.3(BTNL3):c.388C>T (p.Arg130Trp)	BTNL3 (R130W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 714286	NM_197975.3(BTNL3):c.844_845del (p.Asp282fs)	BTNL3 (D282fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
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 394300	GRCh37/hg19 5q35.3(chr5:180432453-180474868)x3	BTNL3, BTNL9	Copy number gain	See cases	GBenign
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 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 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	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 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71