ClinVar for Gene (Select 998) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3829766	NM_001791.4(CDC42):c.421A>C (p.Thr141Pro)	CDC42 (T141P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3768258	NM_001791.4(CDC42):c.178+5A>G	CDC42	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3723188	NM_001791.4(CDC42):c.567G>A (p.Val189=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3710629	NM_001791.4(CDC42):c.501T>C (p.Asn167=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3699860	NM_001791.4(CDC42):c.204A>G (p.Arg68=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3680153	NM_001791.4(CDC42):c.288+11C>A	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3670246	NM_001791.4(CDC42):c.179-32_202dup	CDC42	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 3665324	NM_001791.4(CDC42):c.229G>C (p.Val77Leu)	CDC42 (V77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3652824	NM_001791.4(CDC42):c.140del (p.Gly47fs)	CDC42 (G47fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3640209	NM_001791.4(CDC42):c.289-3dup	CDC42	Duplication (intron variant)	not provided	GBenign
Select item 3621454	NM_001791.4(CDC42):c.568C>T (p.Leu190=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3618522	NM_001791.4(CDC42):c.486+12A>G	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3617870	NM_001791.4(CDC42):c.178+6A>C	CDC42	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3608077	NM_001791.4(CDC42):c.289-7T>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3604137	NM_001791.4(CDC42):c.90G>A (p.Ser30=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3393821	NM_001791.4(CDC42):c.22G>C (p.Val8Leu)	CDC42 (V8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3392816	NM_001791.4(CDC42):c.18TGT[2] (p.Val9del)	CDC42 (V9del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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 3361791	NM_001791.4(CDC42):c.439C>T (p.Arg147Cys)	CDC42 (R147C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361713	NM_001791.4(CDC42):c.105+5G>A	CDC42	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359104	NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)	CDC42 (W97C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GLikely pathogenic
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 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	KIF17, KIF1B +207 more	Copy number loss	not provided	GPathogenic
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 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 3006712	NM_001791.4(CDC42):c.487-8del	CDC42	Deletion (intron variant)	not provided	GBenign
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 2969447	NM_001791.4(CDC42):c.417A>G (p.Pro139=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2959976	NM_001791.4(CDC42):c.6G>A (p.Gln2=)	CDC42	Single nucleotide variant (synonymous 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 2887600	NM_001791.4(CDC42):c.30C>T (p.Gly10=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874480	NM_001791.4(CDC42):c.558C>T (p.Arg186=)	CDC42	Single nucleotide variant (synonymous 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 2870818	NM_001791.4(CDC42):c.289-15A>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868389	NM_001791.4(CDC42):c.486+7A>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 2824786	NM_001791.4(CDC42):c.408T>C (p.Pro136=)	CDC42	Single nucleotide variant (synonymous 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 2820322	NM_001791.4(CDC42):c.415C>T (p.Pro139Ser)	CDC42 (P139S)	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 2806442	NM_001791.4(CDC42):c.487-10C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801282	NM_001791.4(CDC42):c.366C>T (p.Asp122=)	CDC42	Single nucleotide variant (synonymous 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 2793882	NM_001791.4(CDC42):c.289-3del	CDC42	Deletion (intron variant)	not provided	GBenign
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 2780315	NM_001791.4(CDC42):c.288+12A>G	CDC42	Single nucleotide variant (intron 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 2762571	NM_001791.4(CDC42):c.195C>T (p.Asp65=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2751232	NM_001791.4(CDC42):c.105+15T>C	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 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	UBXN10, WNT4 +65 more	Copy number gain	not provided	GLikely pathogenic
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 2665068	GRCh38/hg38 1p36.12(chr1:21999190-22063093)	CDC42, CELA3A +9 more	Copy number gain	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	DISP3, LINC01226 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2664644	NM_001791.4(CDC42):c.191A>C (p.Tyr64Ser)	CDC42 (Y64S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 2584437	NM_001791.4(CDC42):c.552dup (p.Ser185fs)	CDC42 (S185fs)	Duplication (frameshift variant)	CDC42-related disorder	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2424236	NC_000001.10:g.(?_22403357)_(22418010_?)dup	CDC42	Duplication	not provided	GLikely benign
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	RPL11, ID3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
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 2172285	NM_001791.4(CDC42):c.573A>G (p.Leu191=)	CDC42	Single nucleotide variant (synonymous 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 2129791	NM_001791.4(CDC42):c.288+17C>T	CDC42	Single nucleotide variant (intron 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 2088375	NM_001791.4(CDC42):c.288+8G>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068015	NM_001791.4(CDC42):c.261A>G (p.Pro87=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061415	NM_001791.4(CDC42):c.102G>A (p.Pro34=)	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 1997020	NM_001791.4(CDC42):c.306T>G (p.Thr102=)	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 1983812	NM_001791.4(CDC42):c.409A>G (p.Ile137Val)	CDC42 (I137V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1967876	NM_001791.4(CDC42):c.566T>C (p.Val189Ala)	CDC42 (V189A)	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 1961211	NM_001791.4(CDC42):c.300G>A (p.Glu100=)	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 1935142	NM_001791.4(CDC42):c.222A>G (p.Gln74=)	CDC42	Single nucleotide variant (synonymous 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 1917313	NM_001791.4(CDC42):c.537T>A (p.Pro179=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916169	NM_001791.4(CDC42):c.556C>T (p.Arg186Cys)	CDC42 (R186C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1900448	NM_001791.4(CDC42):c.348A>G (p.Gln116=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1801158	NM_001791.4(CDC42):c.184G>C (p.Glu62Gln)	CDC42 (E62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694499	NM_001791.4(CDC42):c.105+229C>G	CDC42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694498	NM_001791.4(CDC42):c.105+126T>A	CDC42	Single nucleotide variant (intron variant)	not provided	GBenign
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 1653853	NM_001791.4(CDC42):c.487-12A>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653558	NM_001791.4(CDC42):c.178+8C>T	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647008	NM_001791.4(CDC42):c.357C>T (p.Leu119=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644854	NM_001791.4(CDC42):c.106-20T>A	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 +2 more	GLikely benign
Select item 1641124	NM_001791.4(CDC42):c.106-15T>A	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635065	NM_001791.4(CDC42):c.207G>A (p.Pro69=)	CDC42	Single nucleotide variant (synonymous 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 1607308	NM_001791.4(CDC42):c.179-5T>C	CDC42	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1588030	NM_001791.4(CDC42):c.414T>A (p.Thr138=)	CDC42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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