10962[HGNC] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 2481622	NM_007256.5(SLCO2B1):c.29A>T (p.Glu10Val)	SLCO2B1 (E10V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3165831	NM_007256.5(SLCO2B1):c.118G>T (p.Val40Leu)	SLCO2B1 (V40L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 745676	NM_007256.5(SLCO2B1):c.153C>T (p.Phe51=)	SLCO2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2207350	NM_007256.5(SLCO2B1):c.206T>C (p.Leu69Pro)	SLCO2B1 (L69P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559462	NM_007256.5(SLCO2B1):c.224C>T (p.Thr75Ile)	SLCO2B1 (T53I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320377	NM_007256.5(SLCO2B1):c.241G>C (p.Gly81Arg)	SLCO2B1 (G59R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681558	NM_007256.5(SLCO2B1):c.257C>T (p.Thr86Met)	SLCO2B1 (T64M +1 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2326711	NM_007256.5(SLCO2B1):c.303G>C (p.Leu101Phe)	SLCO2B1 (L101F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405898	NM_007256.5(SLCO2B1):c.353T>C (p.Ile118Thr)	SLCO2B1 (I118T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165834	NM_007256.5(SLCO2B1):c.359A>G (p.Tyr120Cys)	SLCO2B1 (Y98C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2602992	NM_007256.5(SLCO2B1):c.370C>T (p.Leu124Phe)	SLCO2B1 (L102F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783634	NM_007256.5(SLCO2B1):c.405G>A (p.Pro135=)	SLCO2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2598621	NM_007256.5(SLCO2B1):c.427C>T (p.Arg143Cys)	SLCO2B1 (R143C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511434	NM_007256.5(SLCO2B1):c.428G>A (p.Arg143His)	SLCO2B1 (R143H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165835	NM_007256.5(SLCO2B1):c.430T>G (p.Tyr144Asp)	SLCO2B1 (Y122D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242547	NM_007256.5(SLCO2B1):c.440C>A (p.Thr147Asn)	SLCO2B1 (T125N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165836	NM_007256.5(SLCO2B1):c.493A>T (p.Thr165Ser)	SLCO2B1 (T21S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310419	NM_007256.5(SLCO2B1):c.559A>C (p.Ser187Arg)	SLCO2B1 (S43R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209807	NM_007256.5(SLCO2B1):c.575T>C (p.Met192Thr)	SLCO2B1 (M170T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165837	NM_007256.5(SLCO2B1):c.686T>A (p.Ile229Asn)	SLCO2B1 (I229N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554015	NM_007256.5(SLCO2B1):c.712C>T (p.Pro238Ser)	SLCO2B1 (P94S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165838	NM_007256.5(SLCO2B1):c.748C>T (p.Arg250Cys)	SLCO2B1 (R106C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535852	NM_007256.5(SLCO2B1):c.749G>A (p.Arg250His)	SLCO2B1 (R228H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710737	NM_007256.5(SLCO2B1):c.811C>A (p.Arg271=)	SLCO2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553318	NM_007256.5(SLCO2B1):c.892C>G (p.Pro298Ala)	SLCO2B1 (P276A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320376	NM_007256.5(SLCO2B1):c.916C>T (p.Arg306Cys)	SLCO2B1 (R284C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687047	NM_007256.5(SLCO2B1):c.935G>A (p.Arg312Gln)	SLCO2B1 (R168Q +2 more)	Single nucleotide variant (missense variant)	Atorvastatin response	Gdrug response
Select item 2466123	NM_007256.5(SLCO2B1):c.1013C>T (p.Thr338Met)	SLCO2B1 (T338M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376969	NM_007256.5(SLCO2B1):c.1049A>C (p.Asn350Thr)	SLCO2B1 (N328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165827	NM_007256.5(SLCO2B1):c.1066T>G (p.Phe356Val)	SLCO2B1 (F212V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377627	NM_007256.5(SLCO2B1):c.1106G>A (p.Arg369His)	SLCO2B1 (R225H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165828	NM_007256.5(SLCO2B1):c.1112C>G (p.Pro371Arg)	SLCO2B1 (P227R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165829	NM_007256.5(SLCO2B1):c.1169T>C (p.Met390Thr)	SLCO2B1 (M246T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391007	NM_007256.5(SLCO2B1):c.1259C>T (p.Ser420Leu)	SLCO2B1 (S276L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461964	NM_007256.5(SLCO2B1):c.1267G>A (p.Val423Met)	SLCO2B1 (V279M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612720	NM_007256.5(SLCO2B1):c.1276G>A (p.Val426Met)	SLCO2B1 (V282M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782126	NM_007256.5(SLCO2B1):c.1287C>T (p.Gly429=)	SLCO2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2350174	NM_007256.5(SLCO2B1):c.1340T>C (p.Leu447Pro)	SLCO2B1 (L303P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222032	NM_007256.5(SLCO2B1):c.1373T>C (p.Leu458Pro)	SLCO2B1 (L314P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165832	NM_007256.5(SLCO2B1):c.1390G>A (p.Gly464Ser)	SLCO2B1 (G464S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165833	NM_007256.5(SLCO2B1):c.1428G>T (p.Gln476His)	SLCO2B1 (Q332H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404641	NM_007256.5(SLCO2B1):c.1459C>T (p.Pro487Ser)	SLCO2B1 (P465S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730595	NM_007256.5(SLCO2B1):c.1512C>T (p.Cys504=)	SLCO2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240530	NM_007256.5(SLCO2B1):c.1640C>A (p.Pro547His)	SLCO2B1 (P547H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320378	NM_007256.5(SLCO2B1):c.1936C>G (p.Leu646Val)	SLCO2B1 (L624V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279181	NM_007256.5(SLCO2B1):c.1981G>A (p.Gly661Ser)	SLCO2B1 (G517S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320375	NM_007256.5(SLCO2B1):c.1982G>T (p.Gly661Val)	SLCO2B1 (G639V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346156	NM_007256.5(SLCO2B1):c.2077C>G (p.Gln693Glu)	SLCO2B1 (Q549E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779308	NM_007256.5(SLCO2B1):c.2091G>A (p.Val697=)	SLCO2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527651	GRCh37/hg19 11q13.4-13.5(chr11:74839014-75366449)	ARRB1, GDPD5 +8 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 59