3265[geneid] - 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 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 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 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2641054	NC_000011.10:g.528639C>T	HRAS, LRRC56	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 2641055	NC_000011.10:g.528669C>T	HRAS, LRRC56	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 2641057	NC_000011.10:g.529719C>G	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2570780	NC_000011.10:g.530428_530483del	HRAS, LRRC56	Deletion	not provided	GLikely benign
Select item 1711268	NC_000011.10:g.530428_530455del	HRAS, LRRC56	Deletion	not provided	GLikely benign
Select item 2641058	NC_000011.10:g.530447_530474del	HRAS, LRRC56	Deletion	not provided	GBenign
Select item 2641059	NC_000011.10:g.530444G>A	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 1675437	NC_000011.10:g.530447A>G	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 1694576	NC_000011.10:g.530466G>C	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 1694577	NC_000011.10:g.530475G>A	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2641060	NC_000011.10:g.530522G>C	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2641061	NC_000011.10:g.530587G>C	HRAS, LRRC56	Single nucleotide variant	not provided	GBenign
Select item 2641062	NC_000011.10:g.530614G>C	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2641063	NC_000011.10:g.530894G>C	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2641064	NC_000011.10:g.530895G>C	HRAS, LRRC56	Single nucleotide variant	not provided	GBenign
Select item 2641065	NC_000011.10:g.531047C>T	HRAS, LRRC56	Single nucleotide variant	not provided	GBenign
Select item 2641066	NC_000011.10:g.531063G>C	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2641067	NC_000011.10:g.531065G>A	HRAS, LRRC56	Single nucleotide variant	not provided	GBenign
Select item 1694578	NC_000011.10:g.531070G>A	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2498476	NC_000011.10:g.531072G>A	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
Select item 2570781	NC_000011.10:g.531174C>G	HRAS, LRRC56	Single nucleotide variant	not provided	GLikely benign
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 976046	NM_005343.4(HRAS):c.112-59_*6-51del	HRAS, LRRC56	Deletion (splice acceptor variant +2 more)	Costello syndrome	GUncertain significance
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 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 179613	NC_000011.9:g.(?_532631)_(534375_?)dup	HRAS, LRRC56	Duplication	not specified	GUncertain significance
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 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 +1 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)	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 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)	Costello syndrome +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)	LRRC56, HRAS (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 1334241	NM_005343.4(HRAS):c.521C>A (p.Pro174His)	HRAS, LRRC56 (P174H +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
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	GBenign FDA 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)	Costello syndrome +1 more	GUncertain significance
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 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)	HRAS, LRRC56 (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 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 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)	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 935131	NM_005343.4(HRAS):c.503T>C (p.Leu168Pro)	HRAS, LRRC56 (L168P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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