ClinVar for MedGen (Select 108454) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023375	NM_005343.4(HRAS):c.291-11C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	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 3011061	NM_005343.4(HRAS):c.451-14C>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
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 3005591	NM_005343.4(HRAS):c.290+11T>C	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2983589	NM_005343.4(HRAS):c.343G>A (p.Gly115Arg)	HRAS, LRRC56 (G115R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2978950	NM_005343.4(HRAS):c.445C>A (p.Arg149=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant)	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 2973421	NM_005343.4(HRAS):c.217C>T (p.Arg73Cys)	HRAS, LRRC56 (R73C)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2966734	NM_005343.4(HRAS):c.74A>G (p.Gln25Arg)	HRAS, LRRC56 (Q25R)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2963846	NM_005343.4(HRAS):c.450+4A>C	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GUncertain significance
Select item 2961373	NM_005343.4(HRAS):c.347A>G (p.Asn116Ser)	HRAS, LRRC56 (T10A +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GUncertain significance
Select item 2958767	NM_005343.4(HRAS):c.331A>T (p.Met111Leu)	HRAS, LRRC56 (M111L)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 2920418	NM_005343.4(HRAS):c.306G>A (p.Arg102=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2917594	NM_005343.4(HRAS):c.67C>T (p.Leu23=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2896174	NM_005343.4(HRAS):c.412G>C (p.Gly138Arg)	HRAS, LRRC56 (G138R)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2893865	NM_005343.4(HRAS):c.443C>G (p.Thr148Ser)	HRAS, LRRC56 (P42A +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GUncertain significance
Select item 2893617	NM_005343.4(HRAS):c.429G>A (p.Glu143=)	HRAS, LRRC56 (R37K)	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2889884	NM_005343.4(HRAS):c.374T>G (p.Val125Gly)	HRAS, LRRC56 (V125G +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GUncertain significance
Select item 2885653	NM_005343.4(HRAS):c.221C>G (p.Thr74Ser)	HRAS, LRRC56 (T74S)	Single nucleotide variant (missense 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 2875840	NM_005343.4(HRAS):c.295C>T (p.Gln99Ter)	HRAS, LRRC56 (Q99*)	Single nucleotide variant (5 prime UTR variant +1 more)	Costello syndrome	GUncertain significance
Select item 2853575	NM_005343.4(HRAS):c.395A>G (p.Asp132Gly)	HRAS, LRRC56 (D132G +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GUncertain significance
Select item 2853311	NM_005343.4(HRAS):c.440_450+16del	HRAS, LRRC56	Deletion (splice donor variant)	Costello syndrome	GUncertain significance
Select item 2850846	NM_005343.4(HRAS):c.197C>T (p.Ala66Val)	HRAS, LRRC56 (A66V)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2840656	NM_005343.4(HRAS):c.201G>A (p.Met67Ile)	HRAS, LRRC56 (M67I)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2837680	NM_005343.4(HRAS):c.158T>A (p.Leu53Ter)	HRAS, LRRC56 (L53*)	Single nucleotide variant (nonsense +1 more)	Costello syndrome	GUncertain significance
Select item 2837428	NM_005343.4(HRAS):c.290+7C>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2828298	NM_005343.4(HRAS):c.105T>C (p.Thr35=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2827173	NM_005343.4(HRAS):c.91G>C (p.Glu31Gln)	HRAS, LRRC56 (E31Q)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2826339	NM_005343.4(HRAS):c.305G>A (p.Arg102Gln)	HRAS, LRRC56 (R102Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Costello syndrome	GUncertain significance
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 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 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 2816042	NM_005343.4(HRAS):c.373del (p.Val125fs)	HRAS, LRRC56 (V125fs +1 more)	Deletion (frameshift variant)	Costello syndrome	GUncertain significance
Select item 2814086	NM_005343.4(HRAS):c.290+19G>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2812496	NM_005343.4(HRAS):c.111+15G>C	HRAS, LRRC56	Single nucleotide variant (intron variant)	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 2778774	NM_005343.4(HRAS):c.135C>T (p.Val45=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2767695	NM_005343.4(HRAS):c.158T>G (p.Leu53Trp)	HRAS, LRRC56 (L53W)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2766820	NM_005343.4(HRAS):c.129G>C (p.Gln43His)	HRAS, LRRC56 (Q43H)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2763385	NM_005343.4(HRAS):c.122G>A (p.Arg41Gln)	HRAS, LRRC56 (R41Q)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2758716	NM_005343.4(HRAS):c.450+19C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2756750	NM_005343.4(HRAS):c.291-5C>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2754318	NM_005343.4(HRAS):c.146A>G (p.Glu49Gly)	HRAS, LRRC56 (E49G)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2749082	NM_005343.4(HRAS):c.290+15G>C	LRRC56, HRAS	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2747523	NM_005343.4(HRAS):c.131T>C (p.Val44Ala)	HRAS, LRRC56 (V44A)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2737254	NM_005343.4(HRAS):c.424_426del (p.Ile142del)	HRAS, LRRC56 (I142del +1 more)	Deletion (inframe_deletion)	Costello syndrome	GUncertain significance
Select item 2733049	NM_005343.4(HRAS):c.290+3G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GUncertain significance
Select item 2727378	NM_005343.4(HRAS):c.189G>A (p.Glu63=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2726454	NM_005343.4(HRAS):c.290+15G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2724775	NM_005343.4(HRAS):c.342G>A (p.Val114=)	HRAS, LRRC56 (W8*)	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	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 2705867	NM_005343.4(HRAS):c.407G>C (p.Ser136Thr)	HRAS, LRRC56 (S136T +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GUncertain significance
Select item 2704050	NM_005343.4(HRAS):c.451-16A>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
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 2700226	NM_005343.4(HRAS):c.290+16C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2694362	NM_005343.4(HRAS):c.45C>G (p.Gly15=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
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 2692872	NM_005343.4(HRAS):c.59C>T (p.Thr20Ile)	HRAS, LRRC56 (T20I)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2665082	NM_005343.4(HRAS):c.-54+3G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GUncertain significance
Select item 2425339	NC_000011.9:g.(?_532636)_(554276_?)dup	HRAS, LRRC56	Duplication	not provided	GUncertain significance
Select item 2421729	NM_005343.4(HRAS):c.376G>T (p.Glu126Ter)	HRAS, LRRC56 (E126* +1 more)	Single nucleotide variant (nonsense +1 more)	Costello syndrome	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 2416979	NM_005343.4(HRAS):c.55C>A (p.Leu19Met)	HRAS, LRRC56 (L19M)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2416915	NM_005343.4(HRAS):c.220A>G (p.Thr74Ala)	HRAS, LRRC56 (T74A)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2416003	NM_005343.4(HRAS):c.424A>T (p.Ile142Phe)	HRAS, LRRC56 (I142F)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2194923	NM_005343.4(HRAS):c.294G>A (p.Glu98=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GUncertain significance
Select item 2178513	NM_005343.4(HRAS):c.230G>A (p.Gly77Asp)	HRAS, LRRC56 (G77D)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2175134	NM_005343.4(HRAS):c.450+9G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2172864	NM_005343.4(HRAS):c.25dup (p.Val9fs)	HRAS, LRRC56 (V9fs)	Duplication (frameshift variant +1 more)	Costello syndrome	GUncertain significance
Select item 2164941	NM_005343.4(HRAS):c.178G>C (p.Gly60Arg)	HRAS, LRRC56 (G60R)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2162179	NM_005343.4(HRAS):c.112-14C>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2162148	NM_005343.4(HRAS):c.438C>T (p.Ala146=)	HRAS, LRRC56 (P40L)	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2161739	NM_005343.4(HRAS):c.451-19C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2161724	NM_005343.4(HRAS):c.450+7C>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2161363	NM_005343.4(HRAS):c.403C>T (p.Arg135Ter)	HRAS, LRRC56 (R135*)	Single nucleotide variant (nonsense +1 more)	Costello syndrome	GUncertain significance
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 2156214	NM_005343.4(HRAS):c.451G>C (p.Gly151Arg)	HRAS, LRRC56 (G151R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2155439	NM_005343.4(HRAS):c.112-11T>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GUncertain significance
Select item 2150089	NM_005343.4(HRAS):c.330C>A (p.Pro110=)	HRAS, LRRC56 (P4Q)	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
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 2146410	NM_005343.4(HRAS):c.194G>A (p.Ser65Asn)	HRAS, LRRC56 (S65N)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2134939	NM_005343.4(HRAS):c.111+12G>A	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2134374	NM_005343.4(HRAS):c.218G>A (p.Arg73His)	HRAS, LRRC56 (R73H)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2129194	NM_005343.4(HRAS):c.44G>T (p.Gly15Val)	HRAS, LRRC56 (G15V)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2129189	NM_005343.4(HRAS):c.151T>C (p.Cys51Arg)	HRAS, LRRC56 (C51R)	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 2126974	NM_005343.4(HRAS):c.351G>A (p.Lys117=)	HRAS, LRRC56 (S11N)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely benign
Select item 2121275	NM_005343.4(HRAS):c.319G>A (p.Asp107Asn)	HRAS, LRRC56 (D107N)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2119240	NM_005343.4(HRAS):c.313G>C (p.Asp105His)	HRAS, LRRC56 (D105H)	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 2093523	NM_005343.4(HRAS):c.451-4C>G	LRRC56, HRAS	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2093477	NM_005343.4(HRAS):c.451G>A (p.Gly151Arg)	HRAS, LRRC56 (G151R +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2091540	NM_005343.4(HRAS):c.112-18A>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2089966	NM_005343.4(HRAS):c.566_568del (p.Ser189del)	LRRC56, HRAS (S110del +1 more)	Deletion (inframe_deletion +1 more)	Costello syndrome	GUncertain significance
Select item 2087469	NM_005343.4(HRAS):c.247G>A (p.Ala83Thr)	HRAS, LRRC56 (A83T)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 2080164	NM_005343.4(HRAS):c.225G>C (p.Gly75=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Costello syndrome	GLikely benign
Select item 2079997	NM_005343.4(HRAS):c.112-17G>T	HRAS, LRRC56	Single nucleotide variant (intron variant)	Costello syndrome	GLikely benign
Select item 2061405	NM_005343.4(HRAS):c.215T>C (p.Met72Thr)	HRAS, LRRC56 (M72T)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance

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