Related gene-specific medical variations for Gene (Select 22800) - 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 3355593	NM_012250.6(RRAS2):c.46C>T (p.Arg16Trp)	LOC130005368, RRAS2 (R16W)	Single nucleotide variant (missense variant +1 more)	RRAS2-related disorder	GUncertain significance
Select item 2630270	NM_012250.6(RRAS2):c.32G>A (p.Gly11Asp)	LOC130005368, RRAS2 (G11D)	Single nucleotide variant (missense variant +1 more)	RRAS2-related disorder	GUncertain significance
Select item 2446526	NM_012250.6(RRAS2):c.71G>A (p.Gly24Asp)	LOC130005368, RRAS2 (G24D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2444166	NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)	LOC130005368, RRAS2 (G23S)	Single nucleotide variant (missense variant +1 more)	RRAS2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2430316	NM_012250.6(RRAS2):c.71G>T (p.Gly24Val)	LOC130005368, RRAS2 (G24V)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2429428	NM_012250.6(RRAS2):c.596G>C (p.Cys199Ser)	RRAS2 (C122S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699117	NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp)	LOC130005368, RRAS2 (G23D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1685079	NM_012250.6(RRAS2):c.59T>C (p.Val20Ala)	LOC130005368, RRAS2 (V20A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342092	NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys)	LOC130005368, RRAS2 (G23C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1252817	NM_001177314.2(RRAS2):c.3+5109C>T	LOC130005368, RRAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201613	NM_012250.6(RRAS2):c.62_73dup (p.Gly21_Gly24dup)	LOC130005368, RRAS2	Duplication (inframe_insertion +1 more)	not provided	GLikely pathogenic
Select item 980405	GRCh37/hg19 11p15.2(chr11:14341672-14402349)x1	RRAS2	Copy number loss	not provided	GUncertain significance
Select item 626913	NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	LOC130005368, RRAS2	Duplication (inframe_insertion +1 more)	Noonan syndrome 12 +3 more	GPathogenic
Select item 626911	NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)	LOC130005368, RRAS2 (G23V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 626910	NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)	LOC130005368, RRAS2	Duplication (inframe_insertion +1 more)	Noonan syndrome	GPathogenic