STARD10[gene] - ClinVar

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Items: 37

	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 3170941	NM_006645.3(STARD10):c.872C>A (p.Thr291Asn)	STARD10 (T291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323090	NM_006645.3(STARD10):c.862A>C (p.Thr288Pro)	STARD10 (T288P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170940	NM_006645.3(STARD10):c.858C>G (p.Asp286Glu)	STARD10 (D286E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205089	NM_006645.3(STARD10):c.844G>A (p.Glu282Lys)	STARD10 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787090	NM_006645.3(STARD10):c.801G>A (p.Ala267=)	STARD10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473995	NM_006645.3(STARD10):c.788T>C (p.Ile263Thr)	STARD10 (I263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493831	NM_006645.3(STARD10):c.758C>T (p.Ser253Leu)	STARD10 (S253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375457	NM_006645.3(STARD10):c.739C>G (p.Leu247Val)	STARD10 (L247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309503	NM_006645.3(STARD10):c.716C>T (p.Pro239Leu)	STARD10 (P239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170939	NM_006645.3(STARD10):c.641A>T (p.Lys214Met)	STARD10 (K214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290847	NM_006645.3(STARD10):c.590A>C (p.Lys197Thr)	STARD10 (K197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323087	NM_006645.3(STARD10):c.578G>C (p.Gly193Ala)	STARD10 (G193A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170938	NM_006645.3(STARD10):c.542G>A (p.Cys181Tyr)	STARD10 (C181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323091	NM_006645.3(STARD10):c.536A>G (p.Lys179Arg)	STARD10 (K179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170937	NM_006645.3(STARD10):c.472C>T (p.Arg158Trp)	STARD10 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617199	NM_006645.3(STARD10):c.401G>A (p.Arg134His)	STARD10 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590933	NM_006645.3(STARD10):c.400C>T (p.Arg134Cys)	STARD10 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485680	NM_006645.3(STARD10):c.332A>G (p.Asn111Ser)	STARD10 (N111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323089	NM_006645.3(STARD10):c.250G>T (p.Asp84Tyr)	STARD10 (D84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410952	NM_006645.3(STARD10):c.211C>T (p.Arg71Trp)	STARD10 (R71W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170936	NM_006645.3(STARD10):c.114G>T (p.Glu38Asp)	STARD10 (E38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243525	NM_006645.3(STARD10):c.106G>C (p.Glu36Gln)	STARD10 (E36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461384	NM_006645.3(STARD10):c.58G>A (p.Glu20Lys)	STARD10 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282004	NM_006645.3(STARD10):c.52G>T (p.Gly18Cys)	STARD10 (G18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323088	NM_006645.3(STARD10):c.43C>G (p.Pro15Ala)	STARD10 (P15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239684	NM_006645.3(STARD10):c.22A>G (p.Thr8Ala)	STARD10 (T8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
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 1527647	GRCh37/hg19 11q13.4(chr11:71567724-72488649)	ANAPC15, ARAP1 +15 more	Copy number loss	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: 37