LOC130009662[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009641, LOC130009642 +141 more	Copy number gain	See cases	GUncertain significance
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 884144	NM_003701.4(TNFSF11):c.-147C>T	LOC130009662, TNFSF11	Single nucleotide variant (intron variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 312220	NM_003701.4(TNFSF11):c.-144G>C	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 312221	NM_003701.4(TNFSF11):c.-141C>T	LOC130009662, TNFSF11	Single nucleotide variant (intron variant +1 more)	Autosomal recessive osteopetrosis 2	GLikely benign
Select item 312222	NM_003701.4(TNFSF11):c.-127C>G	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 880855	NM_003701.4(TNFSF11):c.-104C>T	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 880856	NM_003701.4(TNFSF11):c.-94C>T	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 312223	NM_003701.4(TNFSF11):c.-81C>A	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 312224	NM_003701.4(TNFSF11):c.-74C>T	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 312225	NM_003701.4(TNFSF11):c.-64C>G	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 880857	NM_003701.4(TNFSF11):c.-7G>C	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 312226	NM_003701.4(TNFSF11):c.-4C>T	LOC130009662, TNFSF11	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 2437134	NM_003701.4(TNFSF11):c.2T>C (p.Met1Thr)	LOC130009662, TNFSF11 (M1T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive osteopetrosis 2	GUncertain significance
Select item 1417724	NM_003701.4(TNFSF11):c.2T>A (p.Met1Lys)	LOC130009662, TNFSF11 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1177514	NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg)	LOC130009662, TNFSF11 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1519296	NM_003701.4(TNFSF11):c.3G>A (p.Met1Ile)	LOC130009662, TNFSF11 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1962162	NM_003701.4(TNFSF11):c.9C>G (p.Arg3=)	LOC130009662, TNFSF11	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1646928	NM_003701.4(TNFSF11):c.9C>A (p.Arg3=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1949000	NM_003701.4(TNFSF11):c.13A>G (p.Ser5Gly)	LOC130009662, TNFSF11 (S5G)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2066471	NM_003701.4(TNFSF11):c.16A>G (p.Arg6Gly)	LOC130009662, TNFSF11 (R6G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1614338	NM_003701.4(TNFSF11):c.24C>T (p.Tyr8=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1465669	NM_003701.4(TNFSF11):c.28A>G (p.Lys10Glu)	LOC130009662, TNFSF11 (K10E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1589625	NM_003701.4(TNFSF11):c.30G>A (p.Lys10=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409770	NM_003701.4(TNFSF11):c.30G>C (p.Lys10Asn)	LOC130009662, TNFSF11 (K10N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965583	NM_003701.4(TNFSF11):c.37C>G (p.Arg13Gly)	LOC130009662, TNFSF11 (R13G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 312227	NM_003701.4(TNFSF11):c.45G>A (p.Ser15=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	TNFSF11-related disorder +2 more	GBenign/Likely benign
Select item 2613572	NM_003701.4(TNFSF11):c.47A>G (p.Glu16Gly)	LOC130009662, TNFSF11 (E16G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1973339	NM_003701.4(TNFSF11):c.53T>C (p.Met18Thr)	LOC130009662, TNFSF11 (M18T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345678	NM_003701.4(TNFSF11):c.53T>A (p.Met18Lys)	LOC130009662, TNFSF11 (M18K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932149	NM_003701.4(TNFSF11):c.58G>A (p.Gly20Ser)	LOC130009662, TNFSF11 (G20S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2727597	NM_003701.4(TNFSF11):c.60C>T (p.Gly20=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1382923	NM_003701.4(TNFSF11):c.64_65delinsAG (p.Pro22Ser)	LOC130009662, TNFSF11 (P22S)	Indel (intron variant +1 more)	not provided	GUncertain significance
Select item 764537	NM_003701.4(TNFSF11):c.66C>G (p.Pro22=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1640382	NM_003701.4(TNFSF11):c.72C>A (p.Ala24=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970106	NM_003701.4(TNFSF11):c.75G>A (p.Pro25=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1564948	NM_003701.4(TNFSF11):c.78C>T (p.His26=)	LOC130009662, TNFSF11	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1480778	NM_003701.4(TNFSF11):c.79G>A (p.Glu27Lys)	LOC130009662, TNFSF11 (E27K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1422743	NM_003701.4(TNFSF11):c.79G>C (p.Glu27Gln)	LOC130009662, TNFSF11 (E27Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 193256	NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly)	LOC130009662, TNFSF11 (E27G)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1515522	NM_003701.4(TNFSF11):c.81G>C (p.Glu27Asp)	LOC130009662, TNFSF11 (E27D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 501658	NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp)	LOC130009662, TNFSF11 (G28D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2191611	NM_003701.4(TNFSF11):c.84C>T (p.Gly28=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182091	NM_003701.4(TNFSF11):c.84C>G (p.Gly28=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1474050	NM_003701.4(TNFSF11):c.92A>T (p.His31Leu)	TNFSF11, LOC130009662 (H31L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 312228	NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln)	LOC130009662, TNFSF11 (P33Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2831767	NM_003701.4(TNFSF11):c.99G>A (p.Pro33=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1516096	NM_003701.4(TNFSF11):c.101C>A (p.Pro34Gln)	LOC130009662, TNFSF11 (P34Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 718598	NM_003701.4(TNFSF11):c.101C>G (p.Pro34Arg)	LOC130009662, TNFSF11 (P34R)	Single nucleotide variant (missense variant +1 more)	TNFSF11-related disorder +1 more	GBenign/Likely benign
Select item 1908113	NM_003701.4(TNFSF11):c.102G>A (p.Pro34=)	LOC130009662, TNFSF11	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 312229	NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)	LOC130009662, TNFSF11 (P36R)	Single nucleotide variant (missense variant +1 more)	Increased bone mineral density +3 more	GBenign/Likely benign
Select item 1023946	NM_003701.4(TNFSF11):c.110C>G (p.Ala37Gly)	LOC130009662, TNFSF11 (A37G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2827644	NM_003701.4(TNFSF11):c.114G>A (p.Pro38=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1655179	NM_003701.4(TNFSF11):c.114G>T (p.Pro38=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1952011	NM_003701.4(TNFSF11):c.125C>G (p.Pro42Arg)	LOC130009662, TNFSF11 (P42R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 193257	NM_003701.4(TNFSF11):c.126T>C (p.Pro42=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1667117	NM_003701.4(TNFSF11):c.132C>T (p.Ala44=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2012206	NM_003701.4(TNFSF11):c.138C>A (p.Arg46=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1524135	NM_003701.4(TNFSF11):c.140C>T (p.Ser47Phe)	LOC130009662, TNFSF11 (S47F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2321959	NM_003701.4(TNFSF11):c.143T>A (p.Met48Lys)	LOC130009662, TNFSF11 (M48K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 287932	NM_003701.4(TNFSF11):c.147C>T (p.Phe49=)	LOC130009662, TNFSF11	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 312230	NM_003701.4(TNFSF11):c.148G>A (p.Val50Met)	LOC130009662, TNFSF11 (V50M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2063425	NM_003701.4(TNFSF11):c.152C>T (p.Ala51Val)	LOC130009662, TNFSF11 (A51V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1397727	NM_003701.4(TNFSF11):c.154C>G (p.Leu52Val)	LOC130009662, TNFSF11 (L52V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 89