"PreventionGenetics, part of Exact Sciences"[submitter] AND "SV2C"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045761	NM_014979.4(SV2C):c.31C>T (p.Leu11=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 3060767	NM_014979.4(SV2C):c.360G>A (p.Arg120=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GBenign
Select item 3048954	NM_014979.4(SV2C):c.361C>T (p.Arg121Trp)	SV2C (R121W)	Single nucleotide variant (missense variant)	SV2C-related disorder	GLikely benign
Select item 3038438	NM_014979.4(SV2C):c.499G>A (p.Val167Ile)	SV2C (V167I)	Single nucleotide variant (missense variant)	SV2C-related disorder	GLikely benign
Select item 3045731	NM_014979.4(SV2C):c.549C>T (p.Leu183=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 3048043	NM_014979.4(SV2C):c.876C>T (p.Tyr292=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 3051777	NM_014979.4(SV2C):c.906G>A (p.Pro302=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 3049678	NM_014979.4(SV2C):c.1232G>A (p.Arg411His)	SV2C (R411H)	Single nucleotide variant (missense variant)	SV2C-related disorder	GBenign
Select item 3059133	NM_014979.4(SV2C):c.1445C>G (p.Thr482Ser)	LOC126807426, SV2C (T482S)	Single nucleotide variant (missense variant)	SV2C-related disorder	GBenign
Select item 3060811	NM_014979.4(SV2C):c.1627G>A (p.Asp543Asn)	SV2C (D543N)	Single nucleotide variant (missense variant)	SV2C-related disorder	GBenign
Select item 786058	NM_014979.4(SV2C):c.1701G>A (p.Thr567=)	SV2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3034995	NM_014979.4(SV2C):c.1734T>C (p.Ser578=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 3058197	NM_014979.4(SV2C):c.2028G>A (p.Ala676=)	SV2C	Single nucleotide variant (synonymous variant +1 more)	SV2C-related disorder	GLikely benign
Select item 3057159	NM_001297716.2(SV2C):c.2001-5del	SV2C	Deletion (intron variant)	SV2C-related disorder	GBenign