ClinVar for MedGen (Select 322127) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068052	NM_182895.5(SCARF2):c.649T>C (p.Cys217Arg)	SCARF2 (C217R)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GUncertain significance
Select item 2500262	NM_182895.5(SCARF2):c.3G>A (p.Met1Ile)	SCARF2 (M1I)	Single nucleotide variant (missense variant +1 more)	Van den Ende-Gupta syndrome	GLikely pathogenic
Select item 1697232	NM_182895.5(SCARF2):c.220G>T (p.Glu74Ter)	SCARF2	Single nucleotide variant (nonsense)	Van den Ende-Gupta syndrome	GPathogenic
Select item 1526095	NM_182895.5(SCARF2):c.1104C>A (p.Tyr368Ter)	SCARF2 (Y368*)	Single nucleotide variant (nonsense)	Van den Ende-Gupta syndrome	GPathogenic
Select item 1332924	NM_182895.5(SCARF2):c.2181C>G (p.Pro727=)	SCARF2	Single nucleotide variant (synonymous variant)	Van den Ende-Gupta syndrome	GBenign
Select item 1332923	NM_182895.5(SCARF2):c.2187G>C (p.Glu729Asp)	SCARF2 (E729D +1 more)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GBenign
Select item 1332922	NM_182895.5(SCARF2):c.2247C>G (p.Gly749=)	SCARF2	Single nucleotide variant (synonymous variant)	Van den Ende-Gupta syndrome	GBenign
Select item 1332921	NM_182895.5(SCARF2):c.2248dup (p.Leu750fs)	SCARF2 (L750fs +1 more)	Duplication (frameshift variant)	Van den Ende-Gupta syndrome	GBenign
Select item 1332920	NM_182895.5(SCARF2):c.2236dup (p.Arg746fs)	SCARF2 (R746fs +1 more)	Duplication (frameshift variant)	Van den Ende-Gupta syndrome	GBenign
Select item 1332919	NM_182895.5(SCARF2):c.2287dup (p.Ala763fs)	SCARF2 (A763fs +1 more)	Duplication (frameshift variant)	Van den Ende-Gupta syndrome	GBenign
Select item 1323554	NM_182895.5(SCARF2):c.1425-11dup	SCARF2 (R477fs)	Duplication (frameshift variant +1 more)	Van den Ende-Gupta syndrome	GPathogenic
Select item 1184855	NM_182895.5(SCARF2):c.466TGCCAG[1] (p.156CQ[1])	SCARF2	Microsatellite (inframe_deletion)	Van den Ende-Gupta syndrome	GPathogenic
Select item 1184854	NM_182895.5(SCARF2):c.651C>G (p.Cys217Trp)	SCARF2 (C217W)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GPathogenic
Select item 1029236	NM_182895.5(SCARF2):c.1978G>T (p.Ala660Ser)	SCARF2 (A665S +1 more)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome +1 more	GUncertain significance
Select item 1029235	NM_182895.5(SCARF2):c.1907C>T (p.Ala636Val)	SCARF2 (A636V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1029234	NM_182895.5(SCARF2):c.1822A>T (p.Ser608Cys)	SCARF2 (S613C +1 more)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GUncertain significance
Select item 993021	NM_182895.5(SCARF2):c.25del (p.Ala9fs)	SCARF2 (A9fs)	Deletion (frameshift variant)	Van den Ende-Gupta syndrome	GLikely pathogenic
Select item 803645	NM_182895.5(SCARF2):c.915C>G (p.Cys305Trp)	SCARF2 (C305W)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GLikely pathogenic
Select item 522182	NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)	SCARF2 (P661L +1 more)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome +1 more	GBenign/Likely benign
Select item 518325	NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly)	SCARF2 (A820G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 518324	NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly)	SCARF2 (A838G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 190239	NM_182895.5(SCARF2):c.441_457del (p.Trp148fs)	SCARF2 (W148fs)	Deletion (frameshift variant)	Van den Ende-Gupta syndrome	GPathogenic
Select item 144051	NM_182895.5(SCARF2):c.2531del (p.Gln844fs)	SCARF2 (Q844fs +1 more)	Deletion (frameshift variant)	Van den Ende-Gupta syndrome	GPathogenic
Select item 144050	NM_182895.5(SCARF2):c.190T>C (p.Cys64Arg)	SCARF2 (C64R)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GPathogenic
Select item 31047	NM_182895.5(SCARF2):c.1328_1329del (p.Val443fs)	SCARF2 (V443fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 31046	NM_182895.5(SCARF2):c.773G>A (p.Cys258Tyr)	SCARF2 (C258Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 26