"Database of Curated Mutations (DoCM)"[submitter] AND "LRRC56"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12611	NM_005343.4(HRAS):c.437C>T (p.Ala146Val)	HRAS, LRRC56 (A146V +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GLikely pathogenic
Select item 376442	NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)	HRAS, LRRC56 (A146P)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma +5 more	GLikely pathogenic
Select item 12607	NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)	HRAS, LRRC56 (A146T)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +6 more	GPathogenic/Likely pathogenic
Select item 376321	NM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Indel (missense variant +1 more)	Neoplasm	GLikely pathogenic
Select item 376320	NM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Indel (missense variant +1 more)	Neoplasm	GLikely pathogenic
Select item 376319	NM_005343.4(HRAS):c.183G>C (p.Gln61His)	LRRC56, HRAS (Q61H)	Single nucleotide variant (missense variant +1 more)	Neoplasm	GLikely pathogenic
Select item 376318	NM_005343.4(HRAS):c.183G>T (p.Gln61His)	HRAS, LRRC56 (Q61H)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 3	GLikely pathogenic
Select item 376322	NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)	HRAS, LRRC56 (Q61P)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +13 more	GLikely pathogenic
Select item 376033	NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)	HRAS, LRRC56 (Q61L)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	LRRC56, HRAS (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely pathogenic
Select item 376444	NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)	HRAS, LRRC56 (Q61E)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +12 more	GLikely pathogenic
Select item 12601	NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)	HRAS, LRRC56 (Q61K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 376443	NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)	HRAS, LRRC56 (G13A)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +9 more	GLikely pathogenic
Select item 180848	NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	HRAS, LRRC56 (G13V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 12604	NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	HRAS, LRRC56 (G13D)	Single nucleotide variant (missense variant +1 more)	HRAS-related condition +10 more	GPathogenic
Select item 376323	NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)	HRAS, LRRC56 (G13S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely pathogenic
Select item 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12612	NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)	HRAS, LRRC56 (G12D)	Single nucleotide variant (missense variant +1 more)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	HRAS, LRRC56 (G12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 12600	NM_005343.4(HRAS):c.35G>T (p.Gly12Val)	HRAS, LRRC56 (G12V)	Single nucleotide variant (missense variant +1 more)	HRAS-related condition +3 more	GPathogenic
Select item 375961	NM_005343.4(HRAS):c.34G>C (p.Gly12Arg)	HRAS, LRRC56 (G12R)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely pathogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +6 more	GPathogenic
Select item 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database

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Items: 24