ClinVar for MedGen (Select 416646) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576615	NM_003730.6(RNASET2):c.332+1G>T	RNASET2	Single nucleotide variant (splice donor variant)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 2435446	NM_003730.6(RNASET2):c.502T>C (p.Phe168Leu)	RNASET2 (F168L)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 2435445	NM_003730.6(RNASET2):c.261+3A>G	RNASET2	Single nucleotide variant (intron variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 2435444	NM_003730.6(RNASET2):c.705C>A (p.Ser235Arg)	RNASET2 (S235R)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 2435443	NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del)	RNASET2 (K133del)	Microsatellite (inframe_deletion)	Cystic leukoencephalopathy without megalencephaly +1 more	GUncertain significance
Select item 1098640	NM_003730.6(RNASET2):c.148-1G>T	RNASET2	Single nucleotide variant (splice acceptor variant)	Cystic leukoencephalopathy without megalencephaly	GLikely pathogenic
Select item 930668	NM_003730.6(RNASET2):c.131C>T (p.Pro44Leu)	RNASET2 (P44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 930667	NM_003730.6(RNASET2):c.204-14A>G	RNASET2	Single nucleotide variant (intron variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 907348	NM_003730.6(RNASET2):c.-221G>A	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 907287	NM_003730.6(RNASET2):c.648G>C (p.Pro216=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906343	NM_003730.6(RNASET2):c.-155C>T	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 906342	NM_003730.6(RNASET2):c.-72C>G	RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 906341	NM_003730.6(RNASET2):c.-69C>T	RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 903949	NM_003730.6(RNASET2):c.563G>T (p.Ser188Ile)	RNASET2 (S188I)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 903948	NM_003730.6(RNASET2):c.568-4T>C	RNASET2	Single nucleotide variant (intron variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 873505	NM_003730.6(RNASET2):c.22G>A (p.Gly8Arg)	RNASET2 (G8R)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 872952	NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter)	RNASET2 (S78* +1 more)	Single nucleotide variant (nonsense)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 813909	NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser)	RNASET2 (P250S)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 786739	NM_003730.6(RNASET2):c.660G>A (p.Pro220=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 782746	NM_003730.6(RNASET2):c.426C>T (p.Tyr142=)	RNASET2	Single nucleotide variant (synonymous variant)	RNASET2-related condition +2 more	GBenign
Select item 779708	NM_003730.6(RNASET2):c.207C>T (p.Pro69=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 779640	NM_003730.6(RNASET2):c.214A>G (p.Ser72Gly)	RNASET2 (S72G)	Single nucleotide variant (missense variant)	RNASET2-related condition +2 more	GBenign/Likely benign
Select item 735217	NM_003730.6(RNASET2):c.696C>T (p.Ala232=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 716206	NM_003730.6(RNASET2):c.707G>A (p.Arg236Gln)	RNASET2 (R236Q)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly +2 more	GBenign/Likely benign
Select item 436545	NM_003730.6(RNASET2):c.710dup (p.Leu238fs)	RNASET2 (L238fs)	Duplication (frameshift variant)	Cystic leukoencephalopathy without megalencephaly	GLikely pathogenic
Select item 356055	NM_003730.4(RNASET2):c.-396T>C	LOC129997675, RNASET2	Single nucleotide variant	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356054	NM_003730.4(RNASET2):c.-392G>C	LOC129997675, RNASET2	Single nucleotide variant	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356053	NM_003730.4(RNASET2):c.-384G>A	LOC129997675, RNASET2	Single nucleotide variant	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356052	NM_003730.6(RNASET2):c.-322T>C	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GBenign
Select item 356051	NM_003730.6(RNASET2):c.-321G>T	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GBenign
Select item 356050	NM_003730.6(RNASET2):c.-251G>C	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356049	NM_003730.6(RNASET2):c.-227G>T	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GBenign
Select item 356048	NM_003730.6(RNASET2):c.-203G>A	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356047	NM_003730.6(RNASET2):c.-183del	LOC129997675, RNASET2	Deletion (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356046	NM_003730.6(RNASET2):c.-176C>T	LOC129997675, RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356045	NM_003730.6(RNASET2):c.-114G>C	RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356044	NM_003730.6(RNASET2):c.-104G>T	RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356043	NM_003730.6(RNASET2):c.-77del	RNASET2	Deletion (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356042	NM_003730.6(RNASET2):c.-32A>G	RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356041	NM_003730.6(RNASET2):c.-14C>A	RNASET2	Single nucleotide variant (5 prime UTR variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356040	NM_003730.6(RNASET2):c.-3_6del (p.Met1_Arg2del)	RNASET2	Deletion (inframe_deletion +1 more)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356039	NM_003730.6(RNASET2):c.16C>T (p.Leu6=)	RNASET2	Single nucleotide variant (synonymous variant)	Cystic leukoencephalopathy without megalencephaly +1 more	GBenign
Select item 356038	NM_003730.6(RNASET2):c.21C>T (p.Arg7=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 356037	NM_003730.6(RNASET2):c.147+3G>A	RNASET2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 356036	NM_003730.6(RNASET2):c.224G>A (p.Cys75Tyr)	RNASET2 (C75Y)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356035	NM_003730.6(RNASET2):c.325C>A (p.Arg109Ser)	RNASET2 (R109S)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356034	NM_003730.6(RNASET2):c.360C>A (p.Thr120=)	RNASET2	Single nucleotide variant (synonymous variant)	Cystic leukoencephalopathy without megalencephaly +1 more	GConflicting classifications of pathogenicity
Select item 356033	NM_003730.6(RNASET2):c.380C>T (p.Ala127Val)	RNASET2 (A127V)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356032	NM_003730.6(RNASET2):c.516T>C (p.Leu172=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 356031	NM_003730.6(RNASET2):c.534G>A (p.Val178=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356030	NM_003730.6(RNASET2):c.643G>A (p.Glu215Lys)	RNASET2 (E215K)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly +2 more	GBenign/Likely benign
Select item 356029	NM_003730.6(RNASET2):c.648G>A (p.Pro216=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 356028	NM_003730.6(RNASET2):c.652G>A (p.Glu218Lys)	RNASET2 (E218K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356027	NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp)	RNASET2 (R236W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 356026	NM_003730.6(RNASET2):c.741C>A (p.Phe247Leu)	RNASET2 (F247L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 417	NM_003730.6(RNASET2):c.567G>A (p.Gln189=)	RNASET2	Single nucleotide variant (synonymous variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 416	NM_003730.6(RNASET2):c.50_64del (p.Ala17_Leu21del)	RNASET2	Deletion (inframe_deletion)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 415	NM_003730.6(RNASET2):c.332+1del	RNASET2	Deletion (splice donor variant)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 414	NM_003730.6(RNASET2):c.262-2A>G	RNASET2	Single nucleotide variant (splice acceptor variant)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 413	NM_003730.6(RNASET2):c.87-1341_147+1181del	RNASET2	Deletion (splice acceptor variant +1 more)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 412	NM_003730.6(RNASET2):c.550T>C (p.Cys184Arg)	RNASET2 (C184R)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GPathogenic

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Items: 61