"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179613	NC_000011.9:g.(?_532631)_(534375_?)dup	HRAS, LRRC56	Duplication	not specified	GUncertain significance
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 45305	NM_005343.4(HRAS):c.510G>A (p.Lys170=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 177918	NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)	HRAS, LRRC56 (R169W +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +7 more	GUncertain significance
Select item 517437	NM_005343.4(HRAS):c.482G>A (p.Arg161His)	HRAS, LRRC56 (R161H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 227430	NM_005343.4(HRAS):c.468C>T (p.Phe156=)	LRRC56, HRAS	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +1 more	GLikely benign
Select item 179859	NM_005343.4(HRAS):c.450+171C>T	HRAS, LRRC56 (R70C)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 179526	NM_005343.4(HRAS):c.450+84C>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 503536	NM_005343.4(HRAS):c.445C>T (p.Arg149Trp)	LRRC56, HRAS (R149W)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +2 more	GUncertain significance
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 177861	NM_005343.4(HRAS):c.418C>T (p.Pro140Ser)	LRRC56, HRAS (P140S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GConflicting classifications of pathogenicity
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 45303	NM_005343.4(HRAS):c.401C>T (p.Ala134Val)	HRAS, LRRC56 (A134V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 40442	NM_005343.4(HRAS):c.378A>G (p.Glu126=)	HRAS, LRRC56 (N20S)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 180851	NM_005343.4(HRAS):c.367C>T (p.Arg123Cys)	HRAS, LRRC56 (R123C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 45302	NM_005343.4(HRAS):c.363T>C (p.Ala121=)	HRAS, LRRC56 (L15P)	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 45301	NM_005343.4(HRAS):c.358C>T (p.Leu120=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 12605	NM_005343.4(HRAS):c.350A>G (p.Lys117Arg)	HRAS, LRRC56 (K117R +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GPathogenic 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)	Noonan syndrome and Noonan-related syndrome +8 more	GBenign/Likely benign
Select item 45299	NM_005343.4(HRAS):c.282C>T (p.His94=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
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=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +4 more	GLikely benign
Select item 179260	NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu)	LRRC56, HRAS (A59L)	Indel (missense variant +1 more)	Costello syndrome	GLikely pathogenic
Select item 40435	NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)	HRAS, LRRC56 (A59T)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 12610	NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)	HRAS, LRRC56 (T58I)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
Select item 163689	NM_005343.4(HRAS):c.112-10C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome +1 more	GLikely benign
Select item 40432	NM_005343.4(HRAS):c.111+15G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 40431	NM_005343.4(HRAS):c.81T>C (p.His27=)	LRRC56, HRAS	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 12609	NM_005343.4(HRAS):c.64C>A (p.Gln22Lys)	HRAS, LRRC56 (Q22K)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GLikely pathogenic
Select item 179085	NM_005343.4(HRAS):c.45C>T (p.Gly15=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 177957	NM_005343.4(HRAS):c.36C>A (p.Gly12=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not specified	Gnot provided
Select item 163690	NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu)	HRAS, LRRC56 (G12E)	Indel (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12612	NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)	HRAS, LRRC56 (G12D)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 12600	NM_005343.4(HRAS):c.35G>T (p.Gly12Val)	HRAS, LRRC56 (G12V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	not provided +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
Select item 178860	NM_005343.4(HRAS):c.31G>A (p.Ala11Thr)	HRAS, LRRC56 (A11T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 503537	NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)	HRAS, LRRC56 (Y4C)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +6 more	GUncertain significance
Select item 137556	NM_005343.4(HRAS):c.-10C>T	LRRC56, HRAS	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42