ClinVar for Gene (Select 84894) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068112	NM_032808.7(LINGO1):c.486G>A (p.Met162Ile)	LINGO1 (M156I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GUncertain significance
Select item 3057691	NM_032808.7(LINGO1):c.1008C>T (p.Tyr336=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition	GLikely benign
Select item 3057649	NM_032808.7(LINGO1):c.1827C>T (p.Ala609=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition	GLikely benign
Select item 3057095	NM_032808.7(LINGO1):c.798G>A (p.Thr266=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition	GLikely benign
Select item 3056021	NM_032808.7(LINGO1):c.7-9C>T	LINGO1	Single nucleotide variant (intron variant)	LINGO1-related condition	GBenign
Select item 3052164	NM_032808.7(LINGO1):c.945G>A (p.Glu315=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition	GLikely benign
Select item 3051993	NM_032808.7(LINGO1):c.274G>A (p.Ala92Thr)	LINGO1 (A86T +1 more)	Single nucleotide variant (missense variant)	LINGO1-related condition	GLikely benign
Select item 3049469	NM_032808.7(LINGO1):c.-4C>A	LINGO1	Single nucleotide variant (5 prime UTR variant +1 more)	LINGO1-related condition	GLikely benign
Select item 3043983	NM_032808.7(LINGO1):c.147C>T (p.Ser49=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition	GLikely benign
Select item 3038997	NM_032808.7(LINGO1):c.939G>T (p.Leu313=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition	GLikely benign
Select item 3035775	NM_032808.7(LINGO1):c.6+9G>A	LINGO1	Single nucleotide variant (intron variant)	LINGO1-related condition	GLikely benign
Select item 3033788	NM_032808.7(LINGO1):c.1668C>T (p.Thr556=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition	GLikely benign
Select item 3026031	NM_032808.7(LINGO1):c.1458C>T (p.Tyr486=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645598	NM_032808.7(LINGO1):c.120G>A (p.Thr40=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645597	NM_032808.7(LINGO1):c.1194G>A (p.Thr398=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition +1 more	GLikely benign
Select item 2645596	NM_032808.7(LINGO1):c.1359G>A (p.Pro453=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition +1 more	GLikely benign
Select item 2645595	NM_032808.7(LINGO1):c.1365C>T (p.Ala455=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645594	NM_032808.7(LINGO1):c.1443G>A (p.Thr481=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645593	NM_032808.7(LINGO1):c.1503C>T (p.Asn501=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645592	NM_032808.7(LINGO1):c.1635C>A (p.Arg545=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645591	NM_032808.7(LINGO1):c.1635C>T (p.Arg545=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620233	NM_032808.7(LINGO1):c.895A>G (p.Ile299Val)	LINGO1 (I293V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620232	NM_032808.7(LINGO1):c.821A>G (p.Asn274Ser)	LINGO1 (N274S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616001	NM_032808.7(LINGO1):c.55C>T (p.Leu19Phe)	LINGO1 (L13F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609637	NM_032808.7(LINGO1):c.1795C>G (p.Pro599Ala)	LINGO1 (P593A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605456	NM_032808.7(LINGO1):c.34G>A (p.Val12Met)	LINGO1 (V12M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601127	NM_032808.7(LINGO1):c.1184C>T (p.Thr395Met)	LINGO1 (T389M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2578746	NM_032808.7(LINGO1):c.1775A>C (p.Asn592Thr)	LINGO1 (N586T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2561115	NM_032808.7(LINGO1):c.1385G>A (p.Arg462Gln)	LINGO1 (R456Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548259	NM_032808.7(LINGO1):c.1070C>T (p.Ser357Leu)	LINGO1 (S357L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541586	NM_032808.7(LINGO1):c.1382C>A (p.Pro461His)	LINGO1 (P461H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526293	NM_032808.7(LINGO1):c.461A>T (p.Lys154Met)	LINGO1 (K154M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524804	NM_032808.7(LINGO1):c.1849A>T (p.Met617Leu)	LINGO1 (M611L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520337	NM_032808.7(LINGO1):c.997G>A (p.Gly333Ser)	LINGO1 (G327S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515484	NM_032808.7(LINGO1):c.832G>A (p.Val278Met)	LINGO1 (V278M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2486553	NM_032808.7(LINGO1):c.1322C>T (p.Thr441Met)	LINGO1 (T435M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475663	NM_032808.7(LINGO1):c.1711G>A (p.Val571Ile)	LINGO1 (V571I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475402	NM_032808.7(LINGO1):c.220C>T (p.Arg74Cys)	LINGO1 (R68C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463269	NM_032808.7(LINGO1):c.1171C>T (p.Arg391Trp)	LINGO1 (R385W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384834	NM_032808.7(LINGO1):c.1358C>T (p.Pro453Leu)	LINGO1 (P447L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378094	NM_032808.7(LINGO1):c.1274G>A (p.Arg425His)	LINGO1 (R425H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348511	NM_032808.7(LINGO1):c.1816A>G (p.Ile606Val)	LINGO1 (I606V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297714	NM_032808.7(LINGO1):c.668G>A (p.Arg223Gln)	LINGO1 (R217Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291121	NM_032808.7(LINGO1):c.368C>T (p.Thr123Met)	LINGO1 (T117M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270158	NM_032808.7(LINGO1):c.452G>A (p.Ser151Asn)	LINGO1 (S145N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232748	NM_032808.7(LINGO1):c.484A>C (p.Met162Leu)	LINGO1 (M156L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224324	NM_032808.7(LINGO1):c.146C>T (p.Ser49Phe)	LINGO1 (S49F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218427	NM_032808.7(LINGO1):c.119C>T (p.Thr40Met)	LINGO1 (T40M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1705749	NM_032808.7(LINGO1):c.158G>A (p.Arg53His)	LINGO1 (R47H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GUncertain significance
Select item 1685925	NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys)	LINGO1 (R284C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GPathogenic
Select item 1676527	NM_032808.7(LINGO1):c.244C>T (p.Arg82Cys)	LINGO1 (R76C +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342495	NM_032808.7(LINGO1):c.1825G>A (p.Ala609Thr)	LINGO1 (A603T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GUncertain significance
Select item 1300108	NM_032808.7(LINGO1):c.1104C>T (p.Ser368=)	LINGO1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 64	GBenign
Select item 1272696	NM_032808.7(LINGO1):c.714G>C (p.Leu238=)	LINGO1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 64 +1 more	GBenign
Select item 1270589	NM_032808.7(LINGO1):c.474A>G (p.Leu158=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1248197	NM_032808.7(LINGO1):c.465C>T (p.Ile155=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1034164	NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys)	LINGO1 (E93K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GUncertain significance
Select item 1030999	NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu)	LINGO1 (Q24E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GUncertain significance
Select item 1030998	NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg)	LINGO1 (K469R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 779902	NM_032808.7(LINGO1):c.1830C>T (p.Asp610=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778558	NM_032808.7(LINGO1):c.1575C>T (p.Pro525=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition +1 more	GBenign
Select item 776935	NM_032808.7(LINGO1):c.1557C>T (p.Pro519=)	LINGO1	Single nucleotide variant (synonymous variant)	LINGO1-related condition +1 more	GBenign/Likely benign
Select item 771195	NM_032808.7(LINGO1):c.1110G>A (p.Pro370=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757205	NM_032808.7(LINGO1):c.114G>A (p.Ser38=)	LINGO1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 624477	GRCh37/hg19 15q24.3(chr15:77684224-77992234)x3	LINGO1, PEAK1 +1 more	Copy number gain	not provided	GLikely benign
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	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 560184	NM_032808.7(LINGO1):c.863A>G (p.Tyr288Cys)	LINGO1 (Y288C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	GPathogenic
Select item 560183	NM_032808.7(LINGO1):c.869G>A (p.Arg290His)	LINGO1 (R290H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 64	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 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 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 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	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 150085	GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3	PEAK1, HMG20A +17 more	Copy number gain	See cases	GLikely benign
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	ACSBG1, ADAMTS7 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 89