CDC6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 1169222	NC_000017.11:g.40287379A>G	CDC6	Single nucleotide variant	not provided	GBenign
Select item 323051	NM_001254.4(CDC6):c.-36T>G	CDC6	Single nucleotide variant (5 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323052	NM_001254.4(CDC6):c.-14+8G>C	CDC6	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 3018130	NM_001254.4(CDC6):c.6T>C (p.Pro2=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382599	NM_001254.4(CDC6):c.10A>G (p.Thr4Ala)	CDC6 (T4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992747	NM_001254.4(CDC6):c.26A>G (p.Gln9Arg)	CDC6 (Q9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396572	NM_001254.4(CDC6):c.56T>C (p.Leu19Pro)	CDC6 (L19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2252935	NM_001254.4(CDC6):c.61C>T (p.Arg21Trp)	CDC6 (R21W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2175357	NM_001254.4(CDC6):c.62G>A (p.Arg21Gln)	CDC6 (R21Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1054636	NM_001254.4(CDC6):c.71A>G (p.Asn24Ser)	CDC6 (N24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116672	NM_001254.4(CDC6):c.72C>T (p.Asn24=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913518	NM_001254.4(CDC6):c.74A>C (p.Lys25Thr)	CDC6 (K25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954792	NM_001254.4(CDC6):c.93T>A (p.Asp31Glu)	CDC6 (D31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3140973	NM_001254.4(CDC6):c.114T>G (p.Asn38Lys)	CDC6 (N38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2010677	NM_001254.4(CDC6):c.114T>C (p.Asn38=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587110	NM_001254.4(CDC6):c.123C>T (p.Thr41=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040489	NM_001254.4(CDC6):c.130_139dup (p.Arg47fs)	CDC6 (R47fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 892450	NM_001254.4(CDC6):c.129C>T (p.Thr43=)	CDC6	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323053	NM_001254.4(CDC6):c.134CTC[1] (p.Pro46del)	CDC6 (P46del)	Microsatellite (inframe_deletion)	Meier-Gorlin syndrome +1 more	GUncertain significance
Select item 1432438	NM_001254.4(CDC6):c.140G>A (p.Arg47His)	CDC6 (R47H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653749	NM_001254.4(CDC6):c.141T>G (p.Arg47=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140975	NM_001254.4(CDC6):c.148G>A (p.Ala50Thr)	CDC6 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808259	NM_001254.4(CDC6):c.148G>C (p.Ala50Pro)	CDC6 (A50P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514443	NM_001254.4(CDC6):c.155C>T (p.Pro52Leu)	CDC6 (P52L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894577	NM_001254.4(CDC6):c.161G>A (p.Ser54Asn)	CDC6 (S54N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210619	NM_001254.4(CDC6):c.165C>T (p.Pro55=)	CDC6	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 5 +2 more	GBenign/Likely benign
Select item 1026245	NM_001254.4(CDC6):c.173G>A (p.Arg58His)	CDC6 (R58H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540306	NM_001254.4(CDC6):c.174T>C (p.Arg58=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 892451	NM_001254.4(CDC6):c.179-14T>C	CDC6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1501851	NM_001254.4(CDC6):c.179-3C>T	CDC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2477750	NM_001254.4(CDC6):c.188A>G (p.Asn63Ser)	CDC6 (N63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813610	NM_001254.4(CDC6):c.206A>G (p.His69Arg)	CDC6 (H69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063859	NM_001254.4(CDC6):c.214C>A (p.Pro72Thr)	CDC6 (P72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407842	NM_001254.4(CDC6):c.215C>T (p.Pro72Leu)	CDC6 (P72L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177973	NM_001254.4(CDC6):c.246G>A (p.Glu82=)	CDC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2338266	NM_001254.4(CDC6):c.250G>A (p.Gly84Ser)	CDC6 (G84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1668001	NM_001254.4(CDC6):c.252T>A (p.Gly84=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044345	NM_001254.4(CDC6):c.266A>G (p.His89Arg)	CDC6 (H89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969456	NM_001254.4(CDC6):c.270A>C (p.Thr90=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140976	NM_001254.4(CDC6):c.293T>C (p.Phe98Ser)	CDC6 (F98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2962803	NM_001254.4(CDC6):c.305T>G (p.Leu102Arg)	CDC6 (L102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881425	NM_001254.4(CDC6):c.342A>G (p.Lys114=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013191	NM_001254.4(CDC6):c.348C>T (p.His116=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140977	NM_001254.4(CDC6):c.354C>A (p.Asn118Lys)	CDC6 (N118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1037797	NM_001254.4(CDC6):c.361C>T (p.Leu121Phe)	CDC6 (L121F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910508	NM_001254.4(CDC6):c.400T>G (p.Ser134Ala)	CDC6 (S134A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007305	NM_001254.4(CDC6):c.404A>T (p.Glu135Val)	CDC6 (E135V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901712	NM_001254.4(CDC6):c.413G>A (p.Cys138Tyr)	CDC6 (C138Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908876	NM_001254.4(CDC6):c.436T>C (p.Cys146Arg)	CDC6 (C146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128636	NM_001254.4(CDC6):c.438T>C (p.Cys146=)	CDC6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2049354	NM_001254.4(CDC6):c.439G>T (p.Val147Leu)	CDC6 (V147L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1095892	NM_001254.4(CDC6):c.460+8C>T	CDC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599129	NM_001254.4(CDC6):c.460+13A>C	CDC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1965962	NM_001254.4(CDC6):c.461-19C>A	CDC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962490	NM_001254.4(CDC6):c.461G>T (p.Gly154Val)	CDC6 (G154V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 323054	NM_001254.4(CDC6):c.464C>T (p.Thr155Ile)	CDC6 (T155I)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 2904633	NM_001254.4(CDC6):c.487G>T (p.Val163Phe)	CDC6 (V163F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889072	NM_001254.4(CDC6):c.508G>A (p.Asp170Asn)	CDC6 (D170N)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 2993501	NM_001254.4(CDC6):c.510T>C (p.Asp170=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085910	NM_001254.4(CDC6):c.511C>T (p.Arg171Trp)	CDC6 (R171W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795147	NM_001254.4(CDC6):c.511C>A (p.Arg171=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058656	NM_001254.4(CDC6):c.535A>G (p.Met179Val)	CDC6 (M179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822103	NM_001254.4(CDC6):c.536T>C (p.Met179Thr)	CDC6 (M179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717760	NM_001254.4(CDC6):c.561G>T (p.Arg187Ser)	CDC6 (R187S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323055	NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter)	CDC6 (Y199*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2964242	NM_001254.4(CDC6):c.609T>C (p.Ala203=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831900	NM_001254.4(CDC6):c.614G>A (p.Gly205Glu)	CDC6 (G205E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210620	NM_001254.4(CDC6):c.640C>T (p.Arg214Trp)	CDC6 (R214W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1003905	NM_001254.4(CDC6):c.641G>A (p.Arg214Gln)	CDC6 (R214Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020977	NM_001254.4(CDC6):c.660G>C (p.Lys220Asn)	CDC6 (K220N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019832	NM_001254.4(CDC6):c.660+5A>T	CDC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1658184	NM_001254.4(CDC6):c.660+9A>G	CDC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991465	NM_001254.4(CDC6):c.661-14A>T	CDC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600031	NM_001254.4(CDC6):c.661-5dup	CDC6	Duplication (intron variant)	not provided	GBenign
Select item 2960023	NM_001254.4(CDC6):c.668T>A (p.Leu223Gln)	CDC6 (L223Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893264	NM_001254.4(CDC6):c.685A>G (p.Ile229Val)	CDC6 (I229V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651303	NM_001254.4(CDC6):c.693G>A (p.Leu231=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759524	NM_001254.4(CDC6):c.705del (p.Ser235_Leu236insTer)	CDC6	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 210621	NM_001254.4(CDC6):c.712A>G (p.Thr238Ala)	CDC6 (T238A)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 2975757	NM_001254.4(CDC6):c.723T>C (p.Ala241=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896887	NM_001254.4(CDC6):c.733G>C (p.Ala245Pro)	CDC6 (A245P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192644	NM_001254.4(CDC6):c.745G>C (p.Glu249Gln)	CDC6 (E249Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2478230	NM_001254.4(CDC6):c.776C>A (p.Ala259Asp)	CDC6 (A259D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1939856	NM_001254.4(CDC6):c.787A>G (p.Met263Val)	CDC6 (M263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434625	NM_001254.4(CDC6):c.789G>C (p.Met263Ile)	CDC6 (M263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128637	NM_001254.4(CDC6):c.790A>G (p.Met264Val)	CDC6 (M264V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1530732	NM_001254.4(CDC6):c.795G>A (p.Arg265=)	CDC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 323056	NM_001254.4(CDC6):c.799T>C (p.Leu267=)	CDC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 210622	NM_001254.4(CDC6):c.809A>G (p.His270Arg)	CDC6 (H270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2956033	NM_001254.4(CDC6):c.812_813del (p.Met271fs)	CDC6 (M271fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2865259	NM_001254.4(CDC6):c.814A>C (p.Thr272Pro)	CDC6 (T272P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990674	NM_001254.4(CDC6):c.836+15G>A	CDC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646962	NM_001254.4(CDC6):c.836+16C>T	CDC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2721508	NM_001254.4(CDC6):c.836+17T>A	CDC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643342	NM_001254.4(CDC6):c.836+17T>G	CDC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1371657	NM_001254.4(CDC6):c.838G>A (p.Val280Met)	CDC6 (V280M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323057	NM_001254.4(CDC6):c.845T>C (p.Val282Ala)	CDC6 (V282A)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5 +1 more	GUncertain significance

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