BTNL9[gene] - ClinVar

Search results

Items: 99

	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 57502	GRCh38/hg38 5q35.3(chr5:181033562-181131973)x3	BTNL9, MIR8089 +5 more	Copy number gain	See cases	GBenign
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 2287359	NM_152547.5(BTNL9):c.100C>T (p.Pro34Ser)	BTNL9 (P34S)	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 2569302	NM_152547.5(BTNL9):c.173C>T (p.Pro58Leu)	BTNL9 (P58L)	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 2602837	NM_152547.5(BTNL9):c.283A>G (p.Arg95Gly)	BTNL9 (R95G)	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 2410468	NM_152547.5(BTNL9):c.293C>T (p.Pro98Leu)	BTNL9 (P98L)	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 3262083	NM_152547.5(BTNL9):c.296C>T (p.Ala99Val)	BTNL9 (A99V)	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 2544590	NM_152547.5(BTNL9):c.328G>A (p.Asp110Asn)	BTNL9 (D110N)	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 719432	NM_152547.5(BTNL9):c.378T>C (p.Ser126=)	BTNL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2287658	NM_152547.5(BTNL9):c.401G>A (p.Arg134His)	BTNL9 (R134H)	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 2477961	NM_152547.5(BTNL9):c.425G>C (p.Gly142Ala)	BTNL9 (G142A)	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 3135579	NM_152547.5(BTNL9):c.599C>T (p.Ala200Val)	BTNL9 (A200V)	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 2656161	NM_152547.5(BTNL9):c.622del (p.Leu208fs)	BTNL9 (L208fs)	Deletion (frameshift variant)	not provided	GBenign
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 2228650	NM_152547.5(BTNL9):c.731T>C (p.Ile244Thr)	BTNL9 (I244T)	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 2558052	NM_152547.5(BTNL9):c.781G>A (p.Ala261Thr)	BTNL9 (A261T)	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 716754	NM_152547.5(BTNL9):c.853+10C>T	BTNL9	Single nucleotide variant (intron variant)	not provided	GBenign
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 2455869	NM_152547.5(BTNL9):c.937C>T (p.Arg313Trp)	BTNL9 (R313W)	Single nucleotide variant (missense variant)	not specified	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 3135583	NM_152547.5(BTNL9):c.995T>C (p.Leu332Pro)	BTNL9 (L332P)	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 2412334	NM_152547.5(BTNL9):c.1018A>C (p.Ser340Arg)	BTNL9 (S340R)	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 3262084	NM_152547.5(BTNL9):c.1048G>A (p.Val350Met)	BTNL9 (V350M)	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 3135567	NM_152547.5(BTNL9):c.1091C>T (p.Pro364Leu)	BTNL9 (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2395896	NM_152547.5(BTNL9):c.1126C>G (p.Leu376Val)	BTNL9 (L376V)	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 3135568	NM_152547.5(BTNL9):c.1132C>T (p.Arg378Trp)	BTNL9 (R378W)	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 2495407	NM_152547.5(BTNL9):c.1178G>A (p.Arg393His)	BTNL9 (R393H)	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 2331843	NM_152547.5(BTNL9):c.1202G>C (p.Cys401Ser)	BTNL9 (C401S)	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 3135570	NM_152547.5(BTNL9):c.1243C>T (p.Pro415Ser)	BTNL9 (P415S)	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 3135571	NM_152547.5(BTNL9):c.1298T>C (p.Leu433Pro)	BTNL9 (L433P)	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 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 3135573	NM_152547.5(BTNL9):c.1349G>A (p.Gly450Asp)	BTNL9 (G450D)	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 2469442	NM_152547.5(BTNL9):c.1402G>A (p.Gly468Ser)	BTNL9 (G468S)	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 3262086	NM_152547.5(BTNL9):c.1442C>T (p.Ala481Val)	BTNL9 (A481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731597	NM_152547.5(BTNL9):c.1476C>T (p.Asp492=)	BTNL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3262082	NM_152547.5(BTNL9):c.1553G>A (p.Ser518Asn)	BTNL9 (S518N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719433	NM_152547.5(BTNL9):c.1557C>T (p.Asp519=)	BTNL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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

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Items: 99