Related gene-specific medical variations for Gene (Select 8635) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1098640	NM_003730.6(RNASET2):c.148-1G>T	RNASET2	Single nucleotide variant (splice acceptor variant)	Cystic leukoencephalopathy without megalencephaly	GLikely pathogenic
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 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 547106	GRCh37/hg19 6q27(chr6:167360170-167362113)x0	RNASET2	Copy number loss	not provided	GLikely pathogenic
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