998[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 2665068	GRCh38/hg38 1p36.12(chr1:21999190-22063093)	CDC42, CELA3A +9 more	Copy number gain	not provided	GUncertain significance
Select item 2959976	NM_001791.4(CDC42):c.6G>A (p.Gln2=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887600	NM_001791.4(CDC42):c.30C>T (p.Gly10=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118254	NM_001791.4(CDC42):c.51A>G (p.Thr17=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766043	NM_001791.4(CDC42):c.60G>C (p.Leu20=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 422537	NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)	CDC42 (I21T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 987296	NM_001791.4(CDC42):c.67T>A (p.Tyr23Asn)	CDC42 (Y23N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 208731	NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)	CDC42 (Y23C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1675351	NM_001791.4(CDC42):c.70A>C (p.Thr24Pro)	CDC42 (T24P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1304835	NM_001791.4(CDC42):c.101C>T (p.Pro34Leu)	CDC42 (P34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013509	NM_001791.4(CDC42):c.101C>A (p.Pro34Gln)	CDC42 (P34Q)	Single nucleotide variant (missense variant)	CDC42-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2061415	NM_001791.4(CDC42):c.102G>A (p.Pro34=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988654	NM_001791.4(CDC42):c.105+7A>G	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751232	NM_001791.4(CDC42):c.105+15T>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1694498	NM_001791.4(CDC42):c.105+126T>A	CDC42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694499	NM_001791.4(CDC42):c.105+229C>G	CDC42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283813	NM_001791.4(CDC42):c.106-109G>A	CDC42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1644854	NM_001791.4(CDC42):c.106-20T>A	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165494	NM_001791.4(CDC42):c.106-9dup	CDC42	Duplication (intron variant)	not provided	GBenign
Select item 1641124	NM_001791.4(CDC42):c.106-15T>A	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167405	NM_001791.4(CDC42):c.106-3T>C	CDC42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372848	NM_001791.4(CDC42):c.124G>A (p.Val42Ile)	CDC42 (V42I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3239587	NM_001791.4(CDC42):c.134T>C (p.Met45Thr)	CDC42 (M45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666573	NM_001791.4(CDC42):c.137T>C (p.Ile46Thr)	CDC42 (I46T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GLikely pathogenic
Select item 1653558	NM_001791.4(CDC42):c.178+8C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289394	NM_001791.4(CDC42):c.178+178C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1607308	NM_001791.4(CDC42):c.179-5T>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575327	NM_001791.4(CDC42):c.179-4C>A	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801158	NM_001791.4(CDC42):c.184G>C (p.Glu62Gln)	CDC42 (E62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664644	NM_001791.4(CDC42):c.191A>C (p.Tyr64Ser)	CDC42 (Y64S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 218950	NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)	CDC42 (Y64C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2762571	NM_001791.4(CDC42):c.195C>T (p.Asp65=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208668	NM_001791.4(CDC42):c.196A>G (p.Arg66Gly)	CDC42 (R66G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 450370	NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)	CDC42 (R68Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3237457	NM_001791.4(CDC42):c.206C>T (p.Pro69Leu)	CDC42 (P69L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GUncertain significance
Select item 1635065	NM_001791.4(CDC42):c.207G>A (p.Pro69=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1935142	NM_001791.4(CDC42):c.222A>G (p.Gln74=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672222	NM_001791.4(CDC42):c.227A>T (p.Asp76Val)	CDC42 (D76V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GLikely pathogenic
Select item 432071	NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)	CDC42 (C81F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 487652	NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)	CDC42 (S83P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2068015	NM_001791.4(CDC42):c.261A>G (p.Pro87=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730778	NM_001791.4(CDC42):c.276C>T (p.Asn92=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2088375	NM_001791.4(CDC42):c.288+8G>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797225	NM_001791.4(CDC42):c.288+9A>G	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780315	NM_001791.4(CDC42):c.288+12A>G	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129791	NM_001791.4(CDC42):c.288+17C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919435	NM_001791.4(CDC42):c.289-19T>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870818	NM_001791.4(CDC42):c.289-15A>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823254	NM_001791.4(CDC42):c.289-12A>G	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958609	NM_001791.4(CDC42):c.289-10C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873518	NM_001791.4(CDC42):c.289-10C>G	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793882	NM_001791.4(CDC42):c.289-3del	CDC42	Deletion (intron variant)	not provided	GBenign
Select item 1612537	NM_001791.4(CDC42):c.294G>A (p.Val98=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961211	NM_001791.4(CDC42):c.300G>A (p.Glu100=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997020	NM_001791.4(CDC42):c.306T>G (p.Thr102=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953771	NM_001791.4(CDC42):c.327T>A (p.Pro109=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 453192	NM_001791.4(CDC42):c.346C>G (p.Gln116Glu)	CDC42 (Q116E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1900448	NM_001791.4(CDC42):c.348A>G (p.Gln116=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1647008	NM_001791.4(CDC42):c.357C>T (p.Leu119=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3368841	NM_001791.4(CDC42):c.359G>T (p.Arg120Ile)	CDC42 (R120I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761642	NM_001791.4(CDC42):c.359G>A (p.Arg120Lys)	CDC42 (R120K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801282	NM_001791.4(CDC42):c.366C>T (p.Asp122=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040061	NM_001791.4(CDC42):c.369C>T (p.Pro123=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793109	NM_001791.4(CDC42):c.371C>T (p.Ser124Phe)	CDC42 (S124F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631107	NM_001791.4(CDC42):c.389C>T (p.Ala130Val)	CDC42 (A130V)	Single nucleotide variant (missense variant)	CDC42-related disorder	GUncertain significance
Select item 2824786	NM_001791.4(CDC42):c.408T>C (p.Pro136=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983812	NM_001791.4(CDC42):c.409A>G (p.Ile137Val)	CDC42 (I137V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1588030	NM_001791.4(CDC42):c.414T>A (p.Thr138=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820322	NM_001791.4(CDC42):c.415C>T (p.Pro139Ser)	CDC42 (P139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969447	NM_001791.4(CDC42):c.417A>G (p.Pro139=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790477	NM_001791.4(CDC42):c.462T>C (p.Tyr154=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2963706	NM_001791.4(CDC42):c.468G>C (p.Glu156Asp)	CDC42 (E156D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967591	NM_001791.4(CDC42):c.468G>A (p.Glu156=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310445	NM_001791.4(CDC42):c.470G>A (p.Cys157Tyr)	CDC42 (C157Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487653	NM_001791.4(CDC42):c.476C>T (p.Ala159Val)	CDC42 (A159V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1491948	NM_001791.4(CDC42):c.486G>A (p.Gln162=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1486276	NM_001791.4(CDC42):c.486+5G>A	CDC42	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2868389	NM_001791.4(CDC42):c.486+7A>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134209	NM_001791.4(CDC42):c.486+8T>A	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715481	NM_001791.4(CDC42):c.486+20C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2260218	NM_001791.4(CDC42):c.487-1489G>A	CDC42, LOC122056785	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1801947	NM_001791.4(CDC42):c.487-1486G>T	CDC42, LOC122056785	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 982957	NM_001791.4(CDC42):c.487-1465del	CDC42, LOC122056785 (F169fs)	Deletion (frameshift variant +1 more)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GUncertain significance
Select item 2585294	NM_001791.4(CDC42):c.487-1465T>A	CDC42, LOC122056785 (F169L)	Single nucleotide variant (missense variant +1 more)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GUncertain significance
Select item 3342997	NM_001791.4(CDC42):c.487-1426_487-1425del	CDC42, LOC122056785 (Q183fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1653853	NM_001791.4(CDC42):c.487-12A>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006712	NM_001791.4(CDC42):c.487-8del	CDC42	Deletion (intron variant)	not provided	GBenign
Select item 2806442	NM_001791.4(CDC42):c.487-10C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838036	NM_001791.4(CDC42):c.487-2A>G	CDC42	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1098376	NM_001791.4(CDC42):c.509A>G (p.Asp170Gly)	CDC42 (D170G)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1596360	NM_001791.4(CDC42):c.510C>T (p.Asp170=)	CDC42	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 487654	NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)	CDC42 (E171K)	Single nucleotide variant (missense variant)	Noonan-like syndrome +1 more	GPathogenic
Select item 1644370	NM_001791.4(CDC42):c.529C>T (p.Leu177=)	CDC42	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +1 more	GLikely benign
Select item 1917313	NM_001791.4(CDC42):c.537T>A (p.Pro179=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970171	NM_001791.4(CDC42):c.545C>T (p.Pro182Leu)	CDC42 (P182L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812434	NM_001791.4(CDC42):c.545C>A (p.Pro182Gln)	CDC42 (P182Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363490	NM_001791.4(CDC42):c.546G>A (p.Pro182=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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