Related gene-specific medical variations for Gene (Select 1662) - ClinVar - NCBI

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

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271242	NM_004398.4(DDX10):c.397C>T (p.Arg133Cys)	DDX10, LOC106865368 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271238	NM_004398.4(DDX10):c.379G>A (p.Val127Met)	DDX10, LOC106865368 (V127M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080866	NM_004398.4(DDX10):c.739C>T (p.Arg247Cys)	DDX10, LOC106865368 (R247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080865	NM_004398.4(DDX10):c.398G>A (p.Arg133His)	DDX10, LOC106865368 (R133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080864	NM_004398.4(DDX10):c.387A>C (p.Glu129Asp)	DDX10, LOC106865368 (E129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049135	NM_004398.4(DDX10):c.240A>G (p.Thr80=)	DDX10, LOC106865368	Single nucleotide variant (synonymous variant)	DDX10-related disorder	GLikely benign
Select item 3041086	NM_004398.4(DDX10):c.378+7A>G	DDX10, LOC106865368	Single nucleotide variant (intron variant)	DDX10-related disorder	GBenign
Select item 2525122	NM_004398.4(DDX10):c.296C>T (p.Thr99Ile)	DDX10, LOC106865368 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490056	NM_004398.4(DDX10):c.736A>G (p.Lys246Glu)	DDX10, LOC106865368 (K246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376196	NM_004398.4(DDX10):c.478G>T (p.Val160Phe)	DDX10, LOC106865368 (V160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354438	NM_004398.4(DDX10):c.602T>G (p.Leu201Arg)	DDX10, LOC106865368 (L201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284063	NM_004398.4(DDX10):c.446C>G (p.Pro149Arg)	DDX10, LOC106865368 (P149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275417	NM_004398.4(DDX10):c.691G>C (p.Gly231Arg)	DDX10, LOC106865368 (G231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679740	NM_004398.4(DDX10):c.1609G>A (p.Ala537Thr)	DDX10 (A537T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 790363	NM_004398.4(DDX10):c.846T>C (p.Tyr282=)	DDX10, LOC106865368	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 687555	GRCh37/hg19 11q22.3(chr11:108558716-109047664)x1	DDX10	Copy number loss	not provided	GUncertain significance