"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446012	NM_006267.5(RANBP2):c.73-6T>A	RANBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 383037	NM_006267.5(RANBP2):c.783-6T>C	RANBP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 469432	NM_006267.5(RANBP2):c.1920A>G (p.Ala640=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy +2 more	GBenign/Likely benign
Select item 380576	NM_006267.5(RANBP2):c.2982A>T (p.Ala994=)	RANBP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 779303	NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His)	RANBP2 (Q1054H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 779304	NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser)	RANBP2 (P1055S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 417861	NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)	RANBP2 (L1076V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 707386	NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu)	RANBP2 (S1117L)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 469452	NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)	RANBP2 (K1121N)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GConflicting classifications of pathogenicity
Select item 469460	NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro)	RANBP2 (A1500P)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 469463	NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val)	RANBP2 (G1587V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 469467	NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg)	RANBP2 (G1667R)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy +1 more	GUncertain significance
Select item 800164	NM_006267.5(RANBP2):c.6098A>G (p.Lys2033Arg)	RANBP2 (K2033R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 381887	NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy +1 more	GBenign/Likely benign
Select item 469482	NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser)	RANBP2 (T2391S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 380569	NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile)	RANBP2 (T2500I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 380577	NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr)	RANBP2 (I2585T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 377298	NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val)	RANBP2 (I2803V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 779807	NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 383038	NM_006267.5(RANBP2):c.9369+4G>A	RANBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign

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Items: 20