"GeneDx"[submitter] AND "LRRC56"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1182954	NM_005343.4(HRAS):c.*76G>C	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 40450	NM_005343.4(HRAS):c.*6-2A>C	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1291002	NM_005343.4(HRAS):c.*6-48G>A	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269148	NM_005343.4(HRAS):c.*5+35C>T	LRRC56, HRAS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1247559	NM_005343.4(HRAS):c.*5+29C>T	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251694	NM_005343.4(HRAS):c.*5+24C>T	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 377968	NM_005343.4(HRAS):c.*5+20C>T	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 561343	NM_005343.4(HRAS):c.*5+14C>G	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 137558	NM_005343.4(HRAS):c.*5+14C>A	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 137557	NM_005343.4(HRAS):c.*1C>T	HRAS, LRRC56	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
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 654278	NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)	HRAS, LRRC56 (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)	not provided +1 more	GLikely benign
Select item 1052272	NM_005343.4(HRAS):c.536C>T (p.Pro179Leu)	HRAS, LRRC56 (P100L +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +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 415883	NM_005343.4(HRAS):c.534C>G (p.Gly178=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +3 more	GLikely benign
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 1024818	NM_005343.4(HRAS):c.517C>T (p.Pro173Ser)	HRAS, LRRC56 (P173S +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	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 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 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)	Large congenital melanocytic nevus +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)	Costello syndrome +7 more	GUncertain significance
Select item 948223	NM_005343.4(HRAS):c.491G>A (p.Arg164Gln)	HRAS, LRRC56 (R164Q +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +2 more	GUncertain significance
Select item 1034833	NM_005343.4(HRAS):c.484G>A (p.Glu162Lys)	HRAS, LRRC56 (E162K +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)	not provided +6 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 1198752	NM_005343.4(HRAS):c.468C>G (p.Phe156Leu)	LRRC56, HRAS (F156L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 1321132	NM_005343.4(HRAS):c.454G>A (p.Val152Met)	HRAS, LRRC56 (V152M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 514968	NM_005343.4(HRAS):c.451-5C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 415886	NM_005343.4(HRAS):c.451-5C>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561443	NM_005343.4(HRAS):c.451-48C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561388	NM_005343.4(HRAS):c.451-168T>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236387	NM_005343.4(HRAS):c.451-224G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561855	NM_005343.4(HRAS):c.451-282C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561445	NM_005343.4(HRAS):c.451-341G>A	LRRC56, HRAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379346	NM_005343.4(HRAS):c.450+174G>A	HRAS, LRRC56 (A71T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 830080	NM_176795.5(HRAS):c.488_507del (p.Leu163fs)	HRAS, LRRC56 (L163fs +1 more)	Deletion (frameshift variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1198269	NM_176795.5(HRAS):c.501G>A (p.Pro167=)	HRAS, LRRC56 (R61Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 40444	NM_176795.5(HRAS):c.500C>T (p.Pro167Leu)	HRAS, LRRC56 (P167L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1267195	NM_176795.5(HRAS):c.498C>G (p.Pro166=)	HRAS, LRRC56 (P60R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 384895	NM_176795.5(HRAS):c.480C>T (p.Ser160=)	HRAS, LRRC56 (P54L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1264485	NM_005343.4(HRAS):c.450+49G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223994	NM_005343.4(HRAS):c.450+38C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385544	NM_005343.4(HRAS):c.450+18C>T	LRRC56, HRAS	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 424493	NM_005343.4(HRAS):c.448C>T (p.Gln150Ter)	HRAS, LRRC56 (Q150*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3252223	NM_005343.4(HRAS):c.445dup (p.Arg149fs)	HRAS, LRRC56 (G43fs +1 more)	Duplication (frameshift variant)	not provided	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 954226	NM_005343.4(HRAS):c.427G>C (p.Glu143Gln)	HRAS, LRRC56 (E143Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 378902	NM_005343.4(HRAS):c.426C>T (p.Ile142=)	HRAS, LRRC56 (S36L)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
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 3371962	NM_005343.4(HRAS):c.403C>G (p.Arg135Gly)	HRAS, LRRC56 (R135G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 409951	NM_005343.4(HRAS):c.398T>A (p.Leu133His)	HRAS, LRRC56 (L133H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 409949	NM_005343.4(HRAS):c.391C>T (p.Gln131Ter)	HRAS, LRRC56 (Q131*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 3252346	NM_005343.4(HRAS):c.389C>T (p.Ala130Val)	HRAS, LRRC56 (A130V +1 more)	Single nucleotide variant (missense variant)	not provided	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 180855	NM_005343.4(HRAS):c.362C>T (p.Ala121Val)	HRAS, LRRC56 (A121V)	Single nucleotide variant (missense variant +1 more)	Costello 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 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 180850	NM_005343.4(HRAS):c.317C>G (p.Ser106Trp)	HRAS, LRRC56 (S106W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 415887	NM_005343.4(HRAS):c.312G>A (p.Lys104=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 40440	NM_005343.4(HRAS):c.309G>A (p.Val103=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 372666	NM_005343.4(HRAS):c.304C>T (p.Arg102Trp)	HRAS, LRRC56 (R102W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 430506	NM_005343.4(HRAS):c.302A>G (p.Lys101Arg)	LRRC56, HRAS (K101R)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GConflicting classifications of pathogenicity
Select item 387956	NM_005343.4(HRAS):c.291-8C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome +1 more	GLikely benign
Select item 511469	NM_005343.4(HRAS):c.291-17C>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1178973	NM_005343.4(HRAS):c.291-30C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 40439	NM_005343.4(HRAS):c.277A>G (p.Ile93Val)	HRAS, LRRC56 (I93V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 1010014	NM_005343.4(HRAS):c.269T>C (p.Phe90Ser)	HRAS, LRRC56 (F90S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 1710887	NM_005343.4(HRAS):c.262A>T (p.Lys88Ter)	HRAS, LRRC56 (K88*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 387714	NM_005343.4(HRAS):c.234C>T (p.Phe78=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +1 more	GLikely benign
Select item 386770	NM_005343.4(HRAS):c.228G>A (p.Glu76=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +1 more	GLikely benign
Select item 496283	NM_005343.4(HRAS):c.222C>T (p.Thr74=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1406399	NM_005343.4(HRAS):c.202C>T (p.Arg68Trp)	HRAS, LRRC56 (R68W)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GConflicting classifications of pathogenicity
Select item 12608	NM_005343.4(HRAS):c.187G>A (p.Glu63Lys)	HRAS, LRRC56 (E63K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 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)	Epidermal nevus +2 more	GPathogenic/Likely pathogenic
Select item 391700	NM_005343.4(HRAS):c.179G>T (p.Gly60Val)	HRAS, LRRC56 (G60V)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +6 more	GPathogenic
Select item 40436	NM_005343.4(HRAS):c.179G>A (p.Gly60Asp)	HRAS, LRRC56 (G60D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 180847	NM_005343.4(HRAS):c.177C>T (p.Ala59=)	LRRC56, HRAS	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome and Noonan-related syndrome +5 more	GBenign/Likely benign
Select item 378924	NM_005343.4(HRAS):c.162C>T (p.Asp54=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 415882	NM_005343.4(HRAS):c.156G>A (p.Leu52=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 378937	NM_005343.4(HRAS):c.150G>A (p.Thr50=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 561731	NM_005343.4(HRAS):c.137T>C (p.Ile46Thr)	HRAS, LRRC56 (I46T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1509551	NM_005343.4(HRAS):c.136A>G (p.Ile46Val)	HRAS, LRRC56 (I46V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 987825	NM_005343.4(HRAS):c.112-13T>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1251912	NM_005343.4(HRAS):c.111+75C>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291000	NM_005343.4(HRAS):c.111+50C>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 40432	NM_005343.4(HRAS):c.111+15G>A	LRRC56, HRAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 515847	NM_005343.4(HRAS):c.111+14C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome +1 more	GLikely benign
Select item 3373486	NM_005343.4(HRAS):c.104C>T (p.Thr35Ile)	HRAS, LRRC56 (T35I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 700253	NM_005343.4(HRAS):c.102C>G (p.Pro34=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome +1 more	GConflicting classifications of pathogenicity
Select item 531196	NM_005343.4(HRAS):c.96C>T (p.Tyr32=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign

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