C0587248[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 15

	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 40447	NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)	HRAS, LRRC56 (K170* +1 more)	Single nucleotide variant (nonsense +1 more)	Costello syndrome	GUncertain significance 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 177918	NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)	HRAS, LRRC56 (R169W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GUncertain significance
Select item 850426	NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)	HRAS, LRRC56 (R164P +1 more)	Single nucleotide variant (missense variant +1 more)	Large congenital melanocytic nevus +5 more	GUncertain significance
Select item 644041	NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)	HRAS, LRRC56 (R161C +1 more)	Single nucleotide variant (missense variant +1 more)	Linear nevus sebaceous syndrome +6 more	GUncertain significance
Select item 835903	NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)	LRRC56, HRAS (T31P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 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 45300	NM_005343.4(HRAS):c.330C>T (p.Pro110=)	HRAS, LRRC56 (P4L)	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign/Likely benign
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 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 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 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 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 503537	NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)	HRAS, LRRC56 (Y4C)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +6 more	GUncertain significance