"Sema4, Sema4"[submitter] AND "HRAS"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40448	NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)	HRAS, LRRC56 (P174S +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 180856	NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)	HRAS, LRRC56 (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 579709	NM_005343.4(HRAS):c.490C>T (p.Arg164Trp)	HRAS, LRRC56 (R164W +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 1692890	NM_005343.4(HRAS):c.481C>G (p.Arg161Gly)	HRAS, LRRC56 (R161G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 40446	NM_005343.4(HRAS):c.477G>A (p.Leu159=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 838341	NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys)	HRAS, LRRC56 (T35A +1 more)	Single nucleotide variant (missense variant)	Costello syndrome +1 more	GUncertain significance
Select item 45304	NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)	HRAS, LRRC56 (G138S)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 259747	NM_005343.4(HRAS):c.369C>T (p.Arg123=)	LRRC56, HRAS (A17V)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 180852	NM_005343.4(HRAS):c.368G>C (p.Arg123Pro)	HRAS, LRRC56 (R123P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 40441	NM_005343.4(HRAS):c.357C>T (p.Asp119=)	HRAS, LRRC56 (T13I)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1007992	NM_005343.4(HRAS):c.291-3C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 448926	NM_005343.4(HRAS):c.291-6T>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40437	NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)	HRAS, LRRC56 (N86T)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 45298	NM_005343.4(HRAS):c.249C>T (p.Ala83=)	LRRC56, HRAS	Single nucleotide variant (synonymous variant +1 more)	HRAS-related condition +4 more	GLikely benign
Select item 1692888	NM_005343.4(HRAS):c.221C>T (p.Thr74Ile)	HRAS, LRRC56 (T74I)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 180847	NM_005343.4(HRAS):c.177C>T (p.Ala59=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +5 more	GBenign/Likely benign
Select item 259746	NM_005343.4(HRAS):c.171T>C (p.Asp57=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 179085	NM_005343.4(HRAS):c.45C>T (p.Gly15=)	LRRC56, HRAS	Single nucleotide variant (synonymous variant +1 more)	HRAS-related condition +4 more	GConflicting classifications of pathogenicity