SCD[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 781943	NM_005063.5(SCD):c.27+9C>T	LOC130004529, SCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2244825	NM_005063.5(SCD):c.110C>G (p.Thr37Arg)	SCD (T37R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731905	NM_005063.5(SCD):c.143C>G (p.Pro48Arg)	SCD (P48R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787080	NM_005063.5(SCD):c.204G>A (p.Lys68=)	SCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2462405	NM_005063.5(SCD):c.268A>G (p.Ile90Val)	SCD (I90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238608	NM_005063.5(SCD):c.313G>A (p.Val105Ile)	SCD (V105I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320181	NM_005063.5(SCD):c.729A>T (p.Gln243His)	SCD (Q243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226762	NM_005063.5(SCD):c.877G>A (p.Val293Met)	SCD (V293M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773538	NM_005063.5(SCD):c.924C>T (p.Tyr308=)	SCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 815373	GRCh37/hg19 10q24.31(chr10:101932457-102392841)x3	WNT8B, NDUFB8 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 26