"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LRRC56" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 656817	NC_000011.9:g.(?_532626)_(534332_?)dup	HRAS, LRRC56	Duplication	Costello syndrome	GUncertain significance
Select item 417510	NC_000011.9:g.(?_532631)_(532755_?)dup	HRAS, LRRC56	Duplication	Costello syndrome	GUncertain significance
Select item 2089966	NM_005343.4(HRAS):c.566_568del (p.Ser189del)	HRAS, LRRC56 (S110del +1 more)	Deletion (inframe_deletion +1 more)	Costello syndrome	GUncertain significance
Select item 1910052	NM_005343.4(HRAS):c.567C>T (p.Ser189=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 1131323	NM_005343.4(HRAS):c.567C>G (p.Ser189=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 940755	NM_005343.4(HRAS):c.566C>T (p.Ser189Phe)	HRAS, LRRC56 (S110F +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 856240	NM_005343.4(HRAS):c.565T>G (p.Ser189Ala)	HRAS, LRRC56 (S189A +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1656757	NM_005343.4(HRAS):c.564C>G (p.Leu188=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 1011612	NM_005343.4(HRAS):c.560T>C (p.Val187Ala)	HRAS, LRRC56 (V108A +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1713318	NM_005343.4(HRAS):c.559G>A (p.Val187Met)	HRAS, LRRC56 (V108M +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1606869	NM_005343.4(HRAS):c.555G>A (p.Lys185=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 531191	NM_005343.4(HRAS):c.552dup (p.Lys185fs)	HRAS, LRRC56 (K185fs +1 more)	Duplication (frameshift variant +1 more)	Costello syndrome	GUncertain significance
Select item 1407404	NM_005343.4(HRAS):c.551G>C (p.Cys184Ser)	HRAS, LRRC56 (C105S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1369069	NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr)	HRAS, LRRC56 (C105Y +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 836160	NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)	HRAS, LRRC56 (S104N +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 240138	NM_005343.4(HRAS):c.546G>A (p.Met182Ile)	HRAS, LRRC56 (M182I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1038544	NM_005343.4(HRAS):c.545T>C (p.Met182Thr)	HRAS, LRRC56 (M103T +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 946957	NM_005343.4(HRAS):c.544A>C (p.Met182Leu)	HRAS, LRRC56 (M103L +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 180853	NM_005343.4(HRAS):c.544A>G (p.Met182Val)	HRAS, LRRC56 (M182V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1447107	NM_005343.4(HRAS):c.543C>T (p.Cys181=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GUncertain significance
Select item 1042310	NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr)	HRAS, LRRC56 (C102Y +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2027966	NM_005343.4(HRAS):c.540C>A (p.Gly180=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 1535136	NM_005343.4(HRAS):c.540C>T (p.Gly180=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 948441	NM_005343.4(HRAS):c.539G>A (p.Gly180Asp)	HRAS, LRRC56 (G101D +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2700340	NM_005343.4(HRAS):c.538G>C (p.Gly180Arg)	HRAS, LRRC56 (G101R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 654278	NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)	LRRC56, HRAS (G101S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 415878	NM_005343.4(HRAS):c.537C>T (p.Pro179=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +2 more	GLikely benign
Select item 1052272	NM_005343.4(HRAS):c.536C>T (p.Pro179Leu)	LRRC56, HRAS (P100L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1422549	NM_005343.4(HRAS):c.535C>T (p.Pro179Ser)	HRAS, LRRC56 (P179S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +2 more	GUncertain significance
Select item 724759	NM_005343.4(HRAS):c.535C>G (p.Pro179Ala)	HRAS, LRRC56 (P100A +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely benign
Select item 1984566	NM_005343.4(HRAS):c.534C>T (p.Gly178=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 415883	NM_005343.4(HRAS):c.534C>G (p.Gly178=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 2709469	NM_005343.4(HRAS):c.532G>A (p.Gly178Ser)	HRAS, LRRC56 (G99S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 660554	NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)	HRAS, LRRC56 (G178R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2014533	NM_005343.4(HRAS):c.529_531del (p.Ser177del)	HRAS, LRRC56 (S98del +1 more)	Deletion (inframe_deletion +1 more)	Costello syndrome	GUncertain significance
Select item 1896875	NM_005343.4(HRAS):c.531T>C (p.Ser177=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2160269	NM_005343.4(HRAS):c.529_530del (p.Ser177fs)	HRAS, LRRC56 (S98fs +1 more)	Microsatellite (frameshift variant +1 more)	Costello syndrome	GUncertain significance
Select item 1720993	NM_005343.4(HRAS):c.530G>C (p.Ser177Thr)	HRAS, LRRC56 (S177T +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1376888	NM_005343.4(HRAS):c.530G>A (p.Ser177Asn)	HRAS, LRRC56 (S98N +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2975056	NM_005343.4(HRAS):c.522T>C (p.Pro174=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 643338	NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)	HRAS, LRRC56 (P174A +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	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	GBenignFDA Recognized database
Select item 415881	NM_005343.4(HRAS):c.519T>G (p.Pro173=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2005751	NM_005343.4(HRAS):c.518C>G (p.Pro173Arg)	HRAS, LRRC56 (P173R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely benign
Select item 462156	NM_005343.4(HRAS):c.518C>T (p.Pro173Leu)	HRAS, LRRC56 (P173L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GUncertain significance
Select item 1024818	NM_005343.4(HRAS):c.517C>T (p.Pro173Ser)	LRRC56, HRAS (P173S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 2820359	NM_005343.4(HRAS):c.516C>A (p.Asn172Lys)	HRAS, LRRC56 (N93K +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 415885	NM_005343.4(HRAS):c.516C>T (p.Asn172=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1055387	NM_005343.4(HRAS):c.515A>G (p.Asn172Ser)	LRRC56, HRAS (N172S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2693094	NM_005343.4(HRAS):c.511C>G (p.Leu171Val)	HRAS, LRRC56 (L92V +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1372348	NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del)	HRAS, LRRC56	Deletion (inframe_deletion +1 more)	Costello syndrome	GUncertain significance
Select item 45305	NM_005343.4(HRAS):c.510G>A (p.Lys170=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benignFDA 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 significanceFDA Recognized database
Select item 1035699	NM_005343.4(HRAS):c.506G>T (p.Arg169Leu)	HRAS, LRRC56 (R169L +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
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 935131	NM_005343.4(HRAS):c.503T>C (p.Leu168Pro)	HRAS, LRRC56 (L168P +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +2 more	GUncertain significance
Select item 240136	NM_005343.4(HRAS):c.498C>A (p.His166Gln)	HRAS, LRRC56 (H166Q +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely benign
Select item 1019189	NM_005343.4(HRAS):c.497A>G (p.His166Arg)	HRAS, LRRC56 (H166R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 1408362	NM_005343.4(HRAS):c.496C>T (p.His166Tyr)	HRAS, LRRC56 (H166Y +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1569234	NM_005343.4(HRAS):c.495G>A (p.Gln165=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2821352	NM_005343.4(HRAS):c.493C>A (p.Gln165Lys)	HRAS, LRRC56 (Q165K +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 775476	NM_005343.4(HRAS):c.492G>A (p.Arg164=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 948223	NM_005343.4(HRAS):c.491G>A (p.Arg164Gln)	HRAS, LRRC56 (R164Q +1 more)	Single nucleotide variant (missense variant +1 more)	HRAS-related disorder +2 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)	Costello syndrome +5 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 2416982	NM_005343.4(HRAS):c.489C>G (p.Ile163Met)	HRAS, LRRC56 (I163M +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1122767	NM_005343.4(HRAS):c.489C>A (p.Ile163=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 580753	NM_005343.4(HRAS):c.487A>T (p.Ile163Phe)	HRAS, LRRC56 (I163F +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2098197	NM_005343.4(HRAS):c.486G>C (p.Glu162Asp)	HRAS, LRRC56 (E162D +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1713326	NM_005343.4(HRAS):c.484G>C (p.Glu162Gln)	HRAS, LRRC56 (E162Q +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1034833	NM_005343.4(HRAS):c.484G>A (p.Glu162Lys)	LRRC56, HRAS (E162K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1091737	NM_005343.4(HRAS):c.483T>C (p.Arg161=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 517437	NM_005343.4(HRAS):c.482G>A (p.Arg161His)	HRAS, LRRC56 (R161H +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 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)	Costello syndrome +6 more	GUncertain significance
Select item 1631844	NM_005343.4(HRAS):c.480G>C (p.Val160=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 1938886	NM_005343.4(HRAS):c.479T>G (p.Val160Gly)	HRAS, LRRC56 (V81G +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1019983	NM_005343.4(HRAS):c.479T>C (p.Val160Ala)	HRAS, LRRC56 (V160A +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2128760	NM_005343.4(HRAS):c.477G>T (p.Leu159Phe)	HRAS, LRRC56 (L159F +1 more)	Single nucleotide variant (missense variant +1 more)	Costello 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	GBenignFDA Recognized database
Select item 1347756	NM_005343.4(HRAS):c.476T>C (p.Leu159Ser)	HRAS, LRRC56 (L159S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 3010191	NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs)	HRAS, LRRC56 (T158fs +1 more)	Indel (frameshift variant +1 more)	Costello syndrome	GUncertain significance
Select item 2884864	NM_005343.4(HRAS):c.474G>C (p.Thr158=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 462155	NM_005343.4(HRAS):c.474G>A (p.Thr158=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 3015521	NM_005343.4(HRAS):c.473C>A (p.Thr158Lys)	HRAS, LRRC56 (T158K +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2146977	NM_005343.4(HRAS):c.473C>G (p.Thr158Arg)	HRAS, LRRC56 (T158R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 134514	NM_005343.4(HRAS):c.473C>T (p.Thr158Met)	HRAS, LRRC56 (T158M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1008068	NM_005343.4(HRAS):c.469T>C (p.Tyr157His)	HRAS, LRRC56 (Y157H +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 227430	NM_005343.4(HRAS):c.468C>T (p.Phe156=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +1 more	GLikely benign
Select item 1146773	NM_005343.4(HRAS):c.465C>T (p.Ala155=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 964643	NM_005343.4(HRAS):c.464C>T (p.Ala155Val)	HRAS, LRRC56 (A76V +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1063343	NM_005343.4(HRAS):c.463G>A (p.Ala155Thr)	HRAS, LRRC56 (A155T +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 936794	NM_005343.4(HRAS):c.463G>T (p.Ala155Ser)	HRAS, LRRC56 (A76S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 1566597	NM_005343.4(HRAS):c.462T>C (p.Asp154=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 578573	NM_005343.4(HRAS):c.461A>T (p.Asp154Val)	LRRC56, HRAS (D154V +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2817156	NM_005343.4(HRAS):c.460G>T (p.Asp154Tyr)	HRAS, LRRC56 (D154Y +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely benign
Select item 40445	NM_005343.4(HRAS):c.460G>A (p.Asp154Asn)	HRAS, LRRC56 (D154N +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1557364	NM_005343.4(HRAS):c.459G>A (p.Glu153=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2810889	NM_005343.4(HRAS):c.457G>T (p.Glu153Ter)	HRAS, LRRC56 (E153* +1 more)	Single nucleotide variant (nonsense +1 more)	Costello syndrome	GUncertain significance
Select item 1321132	NM_005343.4(HRAS):c.454G>A (p.Val152Met)	LRRC56, HRAS (V152M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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