ClinVar for Gene (Select 153579) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262089	NM_152547.5(BTNL9):c.1103C>G (p.Ser368Trp)	BTNL9 (S368W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262088	NM_152547.5(BTNL9):c.1373G>A (p.Gly458Glu)	BTNL9 (G458E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262087	NM_152547.5(BTNL9):c.217C>T (p.Arg73Cys)	BTNL9 (R73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262086	NM_152547.5(BTNL9):c.1442C>T (p.Ala481Val)	BTNL9 (A481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262084	NM_152547.5(BTNL9):c.1048G>A (p.Val350Met)	BTNL9 (V350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262083	NM_152547.5(BTNL9):c.296C>T (p.Ala99Val)	BTNL9 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262082	NM_152547.5(BTNL9):c.1553G>A (p.Ser518Asn)	BTNL9 (S518N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135583	NM_152547.5(BTNL9):c.995T>C (p.Leu332Pro)	BTNL9 (L332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135582	NM_152547.5(BTNL9):c.830T>C (p.Leu277Pro)	BTNL9 (L277P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135581	NM_152547.5(BTNL9):c.74A>G (p.His25Arg)	BTNL9 (H25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135580	NM_152547.5(BTNL9):c.604G>A (p.Val202Ile)	BTNL9 (V202I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135579	NM_152547.5(BTNL9):c.599C>T (p.Ala200Val)	BTNL9 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135578	NM_152547.5(BTNL9):c.430G>C (p.Ala144Pro)	BTNL9 (A144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135577	NM_152547.5(BTNL9):c.301C>T (p.Arg101Trp)	BTNL9 (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135576	NM_152547.5(BTNL9):c.293C>G (p.Pro98Arg)	BTNL9 (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135575	NM_152547.5(BTNL9):c.1511C>T (p.Pro504Leu)	BTNL9 (P504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135574	NM_152547.5(BTNL9):c.1429A>G (p.Thr477Ala)	BTNL9 (T477A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135573	NM_152547.5(BTNL9):c.1349G>A (p.Gly450Asp)	BTNL9 (G450D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135572	NM_152547.5(BTNL9):c.1310G>C (p.Arg437Pro)	BTNL9 (R437P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135571	NM_152547.5(BTNL9):c.1298T>C (p.Leu433Pro)	BTNL9 (L433P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135570	NM_152547.5(BTNL9):c.1243C>T (p.Pro415Ser)	BTNL9 (P415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135569	NM_152547.5(BTNL9):c.1151A>G (p.His384Arg)	BTNL9 (H384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135568	NM_152547.5(BTNL9):c.1132C>T (p.Arg378Trp)	BTNL9 (R378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135567	NM_152547.5(BTNL9):c.1091C>T (p.Pro364Leu)	BTNL9 (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135566	NM_152547.5(BTNL9):c.1031C>T (p.Ser344Leu)	BTNL9 (S344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135565	NM_152547.5(BTNL9):c.1001C>A (p.Pro334Gln)	BTNL9 (P334Q)	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 2656161	NM_152547.5(BTNL9):c.622del (p.Leu208fs)	BTNL9 (L208fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2602837	NM_152547.5(BTNL9):c.283A>G (p.Arg95Gly)	BTNL9 (R95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569302	NM_152547.5(BTNL9):c.173C>T (p.Pro58Leu)	BTNL9 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558052	NM_152547.5(BTNL9):c.781G>A (p.Ala261Thr)	BTNL9 (A261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550056	NM_152547.5(BTNL9):c.412G>A (p.Asp138Asn)	BTNL9 (D138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544590	NM_152547.5(BTNL9):c.328G>A (p.Asp110Asn)	BTNL9 (D110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519871	NM_152547.5(BTNL9):c.385G>A (p.Gly129Ser)	BTNL9 (G129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507469	NM_152547.5(BTNL9):c.1258T>C (p.Trp420Arg)	BTNL9 (W420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495407	NM_152547.5(BTNL9):c.1178G>A (p.Arg393His)	BTNL9 (R393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484408	NM_152547.5(BTNL9):c.751G>A (p.Gly251Arg)	BTNL9 (G251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477961	NM_152547.5(BTNL9):c.425G>C (p.Gly142Ala)	BTNL9 (G142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472767	NM_152547.5(BTNL9):c.1055C>T (p.Ser352Phe)	BTNL9 (S352F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469442	NM_152547.5(BTNL9):c.1402G>A (p.Gly468Ser)	BTNL9 (G468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465992	NM_152547.5(BTNL9):c.1217C>T (p.Pro406Leu)	BTNL9 (P406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455869	NM_152547.5(BTNL9):c.937C>T (p.Arg313Trp)	BTNL9 (R313W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412334	NM_152547.5(BTNL9):c.1018A>C (p.Ser340Arg)	BTNL9 (S340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410468	NM_152547.5(BTNL9):c.293C>T (p.Pro98Leu)	BTNL9 (P98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395896	NM_152547.5(BTNL9):c.1126C>G (p.Leu376Val)	BTNL9 (L376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367022	NM_152547.5(BTNL9):c.295G>C (p.Ala99Pro)	BTNL9 (A99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346993	NM_152547.5(BTNL9):c.1202G>A (p.Cys401Tyr)	BTNL9 (C401Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343973	NM_152547.5(BTNL9):c.1316C>T (p.Ala439Val)	BTNL9 (A439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340407	NM_152547.5(BTNL9):c.1339C>G (p.Arg447Gly)	BTNL9 (R447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331843	NM_152547.5(BTNL9):c.1202G>C (p.Cys401Ser)	BTNL9 (C401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298034	NM_152547.5(BTNL9):c.1571C>T (p.Pro524Leu)	BTNL9 (P524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287658	NM_152547.5(BTNL9):c.401G>A (p.Arg134His)	BTNL9 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287359	NM_152547.5(BTNL9):c.100C>T (p.Pro34Ser)	BTNL9 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267163	NM_152547.5(BTNL9):c.679G>A (p.Val227Ile)	BTNL9 (V227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248993	NM_152547.5(BTNL9):c.1129G>A (p.Glu377Lys)	BTNL9 (E377K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234077	NM_152547.5(BTNL9):c.872C>A (p.Ala291Glu)	BTNL9 (A291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232443	NM_152547.5(BTNL9):c.103A>G (p.Ser35Gly)	BTNL9 (S35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228650	NM_152547.5(BTNL9):c.731T>C (p.Ile244Thr)	BTNL9 (I244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225112	NM_152547.5(BTNL9):c.346G>A (p.Val116Met)	BTNL9 (V116M)	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 785156	NM_152547.5(BTNL9):c.978T>C (p.Tyr326=)	BTNL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731597	NM_152547.5(BTNL9):c.1476C>T (p.Asp492=)	BTNL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719433	NM_152547.5(BTNL9):c.1557C>T (p.Asp519=)	BTNL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719432	NM_152547.5(BTNL9):c.378T>C (p.Ser126=)	BTNL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716754	NM_152547.5(BTNL9):c.853+10C>T	BTNL9	Single nucleotide variant (intron variant)	not provided	GBenign
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 394690	GRCh37/hg19 5q35.3(chr5:180467222-180487246)x3	BTNL9	Copy number gain	See cases	GBenign
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 57502	GRCh38/hg38 5q35.3(chr5:181033562-181131973)x3	BTNL9, MIR8089 +5 more	Copy number gain	See cases	GBenign
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: 99