22800[geneid] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 1288635	NM_012250.6(RRAS2):c.*124G>C	RRAS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1672007	NM_012250.6(RRAS2):c.609T>C (p.Ile203=)	RRAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795560	NM_012250.6(RRAS2):c.606C>G (p.Val202=)	RRAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429428	NM_012250.6(RRAS2):c.596G>C (p.Cys199Ser)	RRAS2 (C122S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3156381	NM_012250.6(RRAS2):c.581A>G (p.Lys194Arg)	RRAS2 (K117R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1429063	NM_012250.6(RRAS2):c.571C>T (p.Arg191Trp)	RRAS2 (R191W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576594	NM_012250.6(RRAS2):c.560C>G (p.Pro187Arg)	RRAS2 (P110R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 12	GUncertain significance
Select item 2053260	NM_012250.6(RRAS2):c.552T>C (p.Pro184=)	RRAS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2498505	NM_012250.6(RRAS2):c.528-2A>C	RRAS2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1896298	NM_012250.6(RRAS2):c.528-18G>T	RRAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993323	NM_012250.6(RRAS2):c.517C>T (p.Arg173Trp)	RRAS2 (R173W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230728	NM_012250.6(RRAS2):c.484A>G (p.Met162Val)	RRAS2 (M85V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2976696	NM_012250.6(RRAS2):c.453A>G (p.Val151=)	RRAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326347	NM_012250.6(RRAS2):c.449A>C (p.Lys150Thr)	RRAS2 (K115T +2 more)	Single nucleotide variant (missense variant)	RRAS2-related disorder +1 more	GUncertain significance
Select item 2741126	NM_012250.6(RRAS2):c.440G>A (p.Arg147Gln)	RRAS2 (R70Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445986	NM_012250.6(RRAS2):c.439C>T (p.Arg147Trp)	RRAS2 (R147W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601268	NM_012250.6(RRAS2):c.412A>T (p.Thr138Ser)	RRAS2 (T103S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1270813	NM_012250.6(RRAS2):c.409-16A>T	RRAS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238516	NM_012250.6(RRAS2):c.408+102G>A	RRAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281308	NM_012250.6(RRAS2):c.408+89dup	RRAS2	Duplication (intron variant)	not provided	GBenign
Select item 1899007	NM_012250.6(RRAS2):c.402A>G (p.Gln134=)	RRAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798635	NM_012250.6(RRAS2):c.364A>T (p.Met122Leu)	RRAS2 (M122L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2211887	NM_012250.6(RRAS2):c.350G>A (p.Arg117His)	RRAS2 (R40H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337528	NM_012250.6(RRAS2):c.349C>T (p.Arg117Cys)	RRAS2 (R117C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632638	NM_012250.6(RRAS2):c.349C>G (p.Arg117Gly)	RRAS2 (R117G +2 more)	Single nucleotide variant (missense variant)	RRAS2-related disorder	GUncertain significance
Select item 2632634	NM_012250.6(RRAS2):c.330G>C (p.Gln110His)	RRAS2 (Q110H +2 more)	Single nucleotide variant (missense variant)	RRAS2-related disorder	GUncertain significance
Select item 2793146	NM_012250.6(RRAS2):c.318G>C (p.Lys106Asn)	RRAS2 (K71N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190912	NM_012250.6(RRAS2):c.314A>G (p.Tyr105Cys)	RRAS2 (Y70C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1604728	NM_012250.6(RRAS2):c.300-4dup	RRAS2	Duplication (intron variant)	not provided	GBenign
Select item 2719150	NM_012250.6(RRAS2):c.300-4T>G	RRAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237157	NM_012250.6(RRAS2):c.300-4del	RRAS2	Deletion (intron variant)	not provided	GBenign
Select item 1617033	NM_012250.6(RRAS2):c.299+19T>C	RRAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2725505	NM_012250.6(RRAS2):c.299+12A>C	RRAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032165	NM_012250.6(RRAS2):c.287C>T (p.Thr96Ile)	RRAS2 (T19I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941783	NM_012250.6(RRAS2):c.271T>A (p.Leu91Met)	RRAS2 (L14M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032887	NM_012250.6(RRAS2):c.258C>T (p.Gly86=)	RRAS2	Single nucleotide variant (synonymous variant)	RRAS2-related disorder	GLikely benign
Select item 1198070	NM_012250.6(RRAS2):c.247A>T (p.Met83Leu)	RRAS2 (M48L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946238	NM_012250.6(RRAS2):c.232A>T (p.Met78Leu)	RRAS2 (M43L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 9447	NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	RRAS2 (Q37L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Noonan syndrome +1 more	GPathogenic
Select item 1478697	NM_012250.6(RRAS2):c.212G>A (p.Gly71Glu)	RRAS2 (G36E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2075695	NM_012250.6(RRAS2):c.210A>G (p.Ala70=)	RRAS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 626912	NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	RRAS2 (A35T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2719598	NM_012250.6(RRAS2):c.196+9A>G	RRAS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2253572	NM_012250.6(RRAS2):c.196A>G (p.Ile66Val)	RRAS2 (I31V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1492512	NM_012250.6(RRAS2):c.195T>C (p.Asp65=)	RRAS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2959205	NM_012250.6(RRAS2):c.188G>A (p.Arg63Gln)	RRAS2 (R28Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3045391	NM_012250.6(RRAS2):c.138C>T (p.Thr46=)	RRAS2	Single nucleotide variant (5 prime UTR variant +1 more)	RRAS2-related disorder	GLikely benign
Select item 1560010	NM_012250.6(RRAS2):c.135A>G (p.Pro45=)	RRAS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1435793	NM_012250.6(RRAS2):c.133C>G (p.Pro45Ala)	RRAS2 (P45A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3011075	NM_012250.6(RRAS2):c.123G>A (p.Thr41=)	RRAS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2067858	NM_012250.6(RRAS2):c.122C>T (p.Thr41Met)	RRAS2 (T41M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	RRAS2-related disorder +1 more	GUncertain significance
Select item 2136007	NM_012250.6(RRAS2):c.108+509A>G	RRAS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2635614	NM_012250.6(RRAS2):c.99G>T (p.Gln33His)	RRAS2 (Q33H)	Single nucleotide variant (missense variant +1 more)	RRAS2-related disorder	GUncertain significance
Select item 1254623	NM_012250.6(RRAS2):c.98A>G (p.Gln33Arg)	RRAS2 (Q33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044034	NM_012250.6(RRAS2):c.90C>T (p.Leu30=)	RRAS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 626913	NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	LOC130005368, RRAS2	Duplication (inframe_insertion +1 more)	Noonan syndrome 12 +3 more	GPathogenic
Select item 1201613	NM_012250.6(RRAS2):c.62_73dup (p.Gly21_Gly24dup)	LOC130005368, RRAS2	Duplication (inframe_insertion +1 more)	not provided	GLikely pathogenic
Select item 626910	NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)	LOC130005368, RRAS2	Duplication (inframe_insertion +1 more)	Noonan syndrome	GPathogenic
Select item 2446526	NM_012250.6(RRAS2):c.71G>A (p.Gly24Asp)	LOC130005368, RRAS2 (G24D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2430316	NM_012250.6(RRAS2):c.71G>T (p.Gly24Val)	LOC130005368, RRAS2 (G24V)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1699117	NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp)	RRAS2, LOC130005368 (G23D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 626911	NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)	LOC130005368, RRAS2 (G23V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2444166	NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)	LOC130005368, RRAS2 (G23S)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 1342092	NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys)	LOC130005368, RRAS2 (G23C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1685079	NM_012250.6(RRAS2):c.59T>C (p.Val20Ala)	LOC130005368, RRAS2 (V20A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3355593	NM_012250.6(RRAS2):c.46C>T (p.Arg16Trp)	LOC130005368, RRAS2 (R16W)	Single nucleotide variant (missense variant +1 more)	RRAS2-related disorder	GUncertain significance
Select item 2630270	NM_012250.6(RRAS2):c.32G>A (p.Gly11Asp)	LOC130005368, RRAS2 (G11D)	Single nucleotide variant (missense variant +1 more)	RRAS2-related disorder	GUncertain significance
Select item 1252817	NM_001177314.2(RRAS2):c.3+5109C>T	LOC130005368, RRAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641618	NM_001177314.2(RRAS2):c.2T>C (p.Met1Thr)	RRAS2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1262103	NM_001177314.2(RRAS2):c.-2C>T	RRAS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1255290	NC_000011.10:g.14364599A>G	RRAS2	Single nucleotide variant	not provided	GBenign
Select item 2425786	NC_000011.9:g.(?_14380289)_(14380416_?)del	RRAS2	Deletion	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980405	GRCh37/hg19 11p15.2(chr11:14341672-14402349)x1	RRAS2	Copy number loss	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	PTH, RRAS2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 87