CDCA7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 1940150	NM_031942.5(CDCA7):c.7G>A (p.Ala3Thr)	CDCA7 (A3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789150	NM_031942.5(CDCA7):c.15C>T (p.Arg5=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048600	NM_031942.5(CDCA7):c.16G>A (p.Val6Met)	CDCA7 (V6M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912599	NM_031942.5(CDCA7):c.18G>A (p.Val6=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924787	NM_031942.5(CDCA7):c.21+3G>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976548	NM_031942.5(CDCA7):c.21+12G>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502576	NM_031942.5(CDCA7):c.21+13C>T	CDCA7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1930442	NM_031942.5(CDCA7):c.21+14G>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663169	NM_031942.5(CDCA7):c.21+20A>G	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879318	NM_031942.5(CDCA7):c.22-17G>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167455	NM_031942.5(CDCA7):c.22-17G>T	CDCA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1674234	NM_031942.5(CDCA7):c.22-15T>C	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2427941	NM_031942.5(CDCA7):c.22-1G>A	CDCA7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2173163	NM_031942.5(CDCA7):c.42GAA[1] (p.Lys15del)	CDCA7 (K15del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 720862	NM_031942.5(CDCA7):c.45G>A (p.Lys15=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643583	NM_031942.5(CDCA7):c.73T>C (p.Leu25=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710262	NM_031942.5(CDCA7):c.93G>A (p.Ser31=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901176	NM_031942.5(CDCA7):c.117C>T (p.Asp39=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618892	NM_031942.5(CDCA7):c.126T>C (p.Ala42=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519406	NM_031942.5(CDCA7):c.146C>T (p.Thr49Met)	CDCA7 (T49M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002538	NM_031942.5(CDCA7):c.147+9del	CDCA7	Deletion (intron variant)	not provided	GLikely benign
Select item 3009386	NM_031942.5(CDCA7):c.147+11C>T	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707389	NM_031942.5(CDCA7):c.147+14G>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832142	NM_031942.5(CDCA7):c.147+15A>C	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804542	NM_031942.5(CDCA7):c.147+17A>G	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1387317	NM_031942.5(CDCA7):c.167A>T (p.Asp56Val)	CDCA7 (D56V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723277	NM_031942.5(CDCA7):c.196dup (p.Tyr66fs)	CDCA7 (Y66fs)	Duplication (frameshift variant +1 more)	not specified +1 more	GUncertain significance
Select item 3000702	NM_031942.5(CDCA7):c.192T>G (p.Val64=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1505000	NM_031942.5(CDCA7):c.194T>G (p.Phe65Cys)	CDCA7 (F65C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469862	NM_031942.5(CDCA7):c.202G>A (p.Asp68Asn)	CDCA7 (D68N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1552053	NM_031942.5(CDCA7):c.225C>T (p.Cys75=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1522882	NM_031942.5(CDCA7):c.226G>A (p.Gly76Ser)	CDCA7 (G76S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916895	NM_031942.5(CDCA7):c.232T>G (p.Ser78Ala)	CDCA7 (S78A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2128144	NM_031942.5(CDCA7):c.244G>T (p.Val82Leu)	CDCA7 (V82L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1492977	NM_031942.5(CDCA7):c.250G>A (p.Asp84Asn)	CDCA7 (D84N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1524146	NM_031942.5(CDCA7):c.251A>G (p.Asp84Gly)	CDCA7 (D84G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175479	NM_031942.5(CDCA7):c.252T>A (p.Asp84Glu)	CDCA7 (D84E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058449	NM_031942.5(CDCA7):c.255A>G (p.Val85=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995605	NM_031942.5(CDCA7):c.287G>A (p.Arg96Lys)	CDCA7 (R96K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1531071	NM_031942.5(CDCA7):c.291A>C (p.Pro97=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1554566	NM_031942.5(CDCA7):c.297C>T (p.Val99=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079417	NM_031942.5(CDCA7):c.304G>A (p.Glu102Lys)	CDCA7 (E102K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1649286	NM_031942.5(CDCA7):c.312C>T (p.Ala104=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1408241	NM_031942.5(CDCA7):c.328G>C (p.Asp110His)	CDCA7 (D110H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1424108	NM_031942.5(CDCA7):c.333dup (p.Asp112Ter)	CDCA7 (D112*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2993193	NM_031942.5(CDCA7):c.336C>T (p.Asp112=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188807	NM_031942.5(CDCA7):c.351C>T (p.Cys117=)	CDCA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1931740	NM_031942.5(CDCA7):c.352G>A (p.Gly118Ser)	CDCA7 (G118S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1372393	NM_031942.5(CDCA7):c.380G>C (p.Gly127Ala)	CDCA7 (G127A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1361772	NM_031942.5(CDCA7):c.384G>A (p.Met128Ile)	CDCA7 (M128I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183723	NM_031942.5(CDCA7):c.384+2T>C	CDCA7	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1588383	NM_031942.5(CDCA7):c.384+8C>T	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610250	NM_031942.5(CDCA7):c.384+9G>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632831	NM_031942.5(CDCA7):c.384+18A>G	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670979	NM_031942.5(CDCA7):c.385-4T>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997379	NM_031942.5(CDCA7):c.395C>T (p.Ser132Leu)	CDCA7 (S53L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1911894	NM_031942.5(CDCA7):c.400C>T (p.Arg134Trp)	CDCA7 (R134W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149578	NM_031942.5(CDCA7):c.401G>A (p.Arg134Gln)	CDCA7 (R55Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385946	NM_031942.5(CDCA7):c.401G>T (p.Arg134Leu)	CDCA7 (R134L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2083226	NM_031942.5(CDCA7):c.402G>A (p.Arg134=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748249	NM_031942.5(CDCA7):c.414G>A (p.Arg138=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1442167	NM_031942.5(CDCA7):c.418C>A (p.Arg140Ser)	CDCA7 (R140S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063500	NM_031942.5(CDCA7):c.419G>A (p.Arg140His)	CDCA7 (R140H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141023	NM_031942.5(CDCA7):c.421A>G (p.Ser141Gly)	CDCA7 (S141G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035074	NM_031942.5(CDCA7):c.432G>A (p.Arg144=)	CDCA7	Single nucleotide variant (synonymous variant)	CDCA7-related disorder	GLikely benign
Select item 1525858	NM_031942.5(CDCA7):c.434A>G (p.His145Arg)	CDCA7 (H145R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897201	NM_031942.5(CDCA7):c.445C>A (p.Leu149Ile)	CDCA7 (L149I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100149	NM_031942.5(CDCA7):c.451G>T (p.Val151Leu)	CDCA7 (V151L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990011	NM_031942.5(CDCA7):c.455C>T (p.Ala152Val)	CDCA7 (A73V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958478	NM_031942.5(CDCA7):c.456G>A (p.Ala152=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900685	NM_031942.5(CDCA7):c.463T>C (p.Phe155Leu)	CDCA7 (F155L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074589	NM_031942.5(CDCA7):c.470C>T (p.Ala157Val)	CDCA7 (A78V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1991412	NM_031942.5(CDCA7):c.472C>T (p.Arg158Trp)	CDCA7 (R158W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141024	NM_031942.5(CDCA7):c.473G>A (p.Arg158Gln)	CDCA7 (R158Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722354	NM_031942.5(CDCA7):c.481A>C (p.Arg161=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1636637	NM_031942.5(CDCA7):c.507G>A (p.Glu169=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410966	NM_031942.5(CDCA7):c.511C>T (p.Arg171Cys)	CDCA7 (R171C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556302	NM_031942.5(CDCA7):c.512G>T (p.Arg171Leu)	CDCA7 (R171L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 739071	NM_031942.5(CDCA7):c.513C>T (p.Arg171=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2427813	NM_031942.5(CDCA7):c.517C>T (p.Pro173Ser)	CDCA7 (P173S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984546	NM_031942.5(CDCA7):c.531T>C (p.Ser177=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717662	NM_031942.5(CDCA7):c.545A>G (p.Asn182Ser)	CDCA7 (N103S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921138	NM_031942.5(CDCA7):c.547T>C (p.Ser183Pro)	CDCA7 (S104P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	GUncertain significance
Select item 745539	NM_031942.5(CDCA7):c.549C>G (p.Ser183=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739315	NM_031942.5(CDCA7):c.549C>T (p.Ser183=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909673	NM_031942.5(CDCA7):c.558A>G (p.Glu186=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465336	NM_031942.5(CDCA7):c.571A>G (p.Met191Val)	CDCA7 (M112V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2702633	NM_031942.5(CDCA7):c.589A>C (p.Arg197=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744265	NM_031942.5(CDCA7):c.591G>A (p.Arg197=)	CDCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017421	NM_031942.5(CDCA7):c.621+16T>C	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551372	NM_031942.5(CDCA7):c.621+19G>A	CDCA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1931244	NM_031942.5(CDCA7):c.621+20T>G	CDCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign

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