ClinVar for Gene (Select 8482) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233584	NM_003612.5(SEMA7A):c.1605C>T (p.Ala535=)	SEMA7A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3159935	NM_003612.5(SEMA7A):c.329C>T (p.Thr110Met)	SEMA7A (T110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159934	NM_003612.5(SEMA7A):c.316G>A (p.Ala106Thr)	SEMA7A (A106T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159933	NM_003612.5(SEMA7A):c.1997A>C (p.His666Pro)	SEMA7A (H501P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159932	NM_003612.5(SEMA7A):c.1901G>A (p.Gly634Asp)	SEMA7A (G634D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159931	NM_003612.5(SEMA7A):c.1573G>A (p.Glu525Lys)	SEMA7A (E525K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159930	NM_003612.5(SEMA7A):c.1549C>T (p.Arg517Cys)	SEMA7A (R352C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159929	NM_003612.5(SEMA7A):c.14C>T (p.Pro5Leu)	LOC130057537, SEMA7A (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159928	NM_003612.5(SEMA7A):c.1337A>G (p.Glu446Gly)	SEMA7A (E281G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159927	NM_003612.5(SEMA7A):c.1244G>T (p.Arg415Leu)	SEMA7A (R250L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060979	NM_003612.5(SEMA7A):c.1545A>G (p.Gln515=)	SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GBenign
Select item 3059494	NM_003612.5(SEMA7A):c.507C>T (p.Tyr169=)	SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GBenign
Select item 3059310	NM_003612.5(SEMA7A):c.1944C>T (p.Ala648=)	SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GBenign
Select item 3059177	NM_003612.5(SEMA7A):c.1239C>T (p.Val413=)	SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GBenign
Select item 3056538	NM_003612.5(SEMA7A):c.378C>T (p.Cys126=)	SEMA7A	Single nucleotide variant (synonymous variant +1 more)	SEMA7A-related disorder	GBenign
Select item 3052608	NM_003612.5(SEMA7A):c.339C>T (p.Ile113=)	SEMA7A	Single nucleotide variant (5 prime UTR variant +2 more)	SEMA7A-related disorder	GLikely benign
Select item 3049304	NM_003612.5(SEMA7A):c.168C>G (p.Ala56=)	LOC130057537, SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GLikely benign
Select item 3047754	NM_003612.5(SEMA7A):c.144A>T (p.Leu48=)	LOC130057537, SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GLikely benign
Select item 3042393	NM_003612.5(SEMA7A):c.525C>T (p.Asp175=)	SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GLikely benign
Select item 3042116	NM_003612.5(SEMA7A):c.1491C>T (p.Gly497=)	SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GBenign
Select item 3033564	NM_003612.5(SEMA7A):c.1095+7G>A	SEMA7A	Single nucleotide variant (intron variant)	SEMA7A-related disorder	GBenign
Select item 2681535	NM_003612.5(SEMA7A):c.1746C>T (p.Asn582=)	SEMA7A	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2645541	NM_003612.5(SEMA7A):c.492C>T (p.Gly164=)	SEMA7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645540	NM_003612.5(SEMA7A):c.1059C>T (p.Gly353=)	SEMA7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2645539	NM_003612.5(SEMA7A):c.1912G>A (p.Glu638Lys)	SEMA7A (E473K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611538	NM_003612.5(SEMA7A):c.1196C>T (p.Thr399Met)	SEMA7A (T234M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595686	NM_003612.5(SEMA7A):c.370C>T (p.Arg124Trp)	SEMA7A (R124W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2557213	NM_003612.5(SEMA7A):c.1082C>T (p.Pro361Leu)	SEMA7A (P361L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554420	NM_003612.5(SEMA7A):c.940G>A (p.Gly314Ser)	SEMA7A (G300S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2491155	NM_003612.5(SEMA7A):c.326G>T (p.Arg109Leu)	SEMA7A (R109L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460653	NM_003612.5(SEMA7A):c.1324C>T (p.Pro442Ser)	SEMA7A (P442S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455803	NM_003612.5(SEMA7A):c.493G>A (p.Glu165Lys)	SEMA7A (E165K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2401896	NM_003612.5(SEMA7A):c.254C>T (p.Ser85Phe)	SEMA7A (S85F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396940	NM_003612.5(SEMA7A):c.379G>A (p.Glu127Lys)	SEMA7A (E127K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392590	NM_003612.5(SEMA7A):c.1382G>A (p.Arg461His)	SEMA7A (R447H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391380	NM_003612.5(SEMA7A):c.1069A>G (p.Ser357Gly)	SEMA7A (S357G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388054	NM_003612.5(SEMA7A):c.227C>T (p.Thr76Met)	SEMA7A (T76M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335465	NM_003612.5(SEMA7A):c.62C>T (p.Pro21Leu)	LOC130057537, SEMA7A (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333377	NM_003612.5(SEMA7A):c.610C>T (p.Arg204Cys)	SEMA7A (R204C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318784	NM_003612.5(SEMA7A):c.1406C>T (p.Ser469Leu)	SEMA7A (S455L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318638	NM_003612.5(SEMA7A):c.1419G>C (p.Glu473Asp)	SEMA7A (E459D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271150	NM_003612.5(SEMA7A):c.688G>A (p.Val230Met)	SEMA7A (V216M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263615	NM_003612.5(SEMA7A):c.1181T>C (p.Met394Thr)	SEMA7A (M380T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252451	NM_003612.5(SEMA7A):c.1963G>T (p.Val655Leu)	SEMA7A (V641L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249860	NM_003612.5(SEMA7A):c.1732C>T (p.Arg578Cys)	SEMA7A (R564C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1687038	NM_003612.5(SEMA7A):c.442C>T (p.Arg148Trp)	SEMA7A (R134W)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 11	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 781176	NM_003612.5(SEMA7A):c.343T>A (p.Ser115Thr)	SEMA7A (S115T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 638186	NM_003612.5(SEMA7A):c.916G>A (p.Val306Ile)	SEMA7A (V306I +2 more)	Single nucleotide variant (missense variant)	John Milton Hagen blood group system	GLikely benign
Select item 638185	NM_003612.5(SEMA7A):c.618_619del (p.Ile206fs)	SEMA7A (I192fs +2 more)	Deletion (frameshift variant)	John Milton Hagen blood group system	GUncertain significance
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 35580	NM_003612.5(SEMA7A):c.1040G>T (p.Arg347Leu)	SEMA7A (R347L +2 more)	Single nucleotide variant (missense variant)	John Milton Hagen blood group system	GAffects
Select item 35579	NM_003612.5(SEMA7A):c.1381C>T (p.Arg461Cys)	SEMA7A (R461C +2 more)	Single nucleotide variant (missense variant)	John Milton Hagen blood group system	GAffects
Select item 35578	NM_003612.5(SEMA7A):c.1379G>A (p.Arg460His)	SEMA7A (R460H +2 more)	Single nucleotide variant (missense variant)	John Milton Hagen blood group system	GAffects
Select item 35577	NM_003612.5(SEMA7A):c.619C>T (p.Arg207Trp)	SEMA7A (R207W +2 more)	Single nucleotide variant (missense variant)	John Milton Hagen blood group system	GAffects
Select item 35576	NM_003612.5(SEMA7A):c.620G>A (p.Arg207Gln)	SEMA7A (R207Q +2 more)	Single nucleotide variant (missense variant)	John Milton Hagen blood group system	GAffects

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Links from Gene

Items: 91