CDC7[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 1272528	NM_003503.4(CDC7):c.-124A>G	CDC7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2406047	NM_003503.4(CDC7):c.22C>G (p.Gln8Glu)	CDC7 (Q8E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314165	NM_003503.4(CDC7):c.98A>G (p.Gln33Arg)	CDC7 (Q33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678428	NM_003503.4(CDC7):c.199G>A (p.Gly67Ser)	CDC7 (G67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397138	NM_003503.4(CDC7):c.211T>A (p.Ser71Thr)	CDC7 (S71T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387868	NM_003503.4(CDC7):c.212C>G (p.Ser71Cys)	CDC7 (S71C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607213	NM_003503.4(CDC7):c.443C>T (p.Ser148Phe)	CDC7 (S148F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314439	NM_003503.4(CDC7):c.459A>C (p.Glu153Asp)	CDC7 (E153D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366311	NM_003503.4(CDC7):c.500G>A (p.Arg167His)	CDC7 (R167H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274002	NM_003503.4(CDC7):c.611A>G (p.His204Arg)	CDC7 (H204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672339	NM_003503.4(CDC7):c.624A>G (p.Ile208Met)	CDC7 (I208M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2351550	NM_003503.4(CDC7):c.635A>C (p.Lys212Thr)	CDC7 (K212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493293	NM_003503.4(CDC7):c.650A>C (p.Glu217Ala)	CDC7 (E217A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 619044	NM_003503.4(CDC7):c.683_689del (p.Lys227_Ser228insTer)	CDC7	Deletion (nonsense)	Premature ovarian insufficiency	GUncertain significance
Select item 2336558	NM_003503.4(CDC7):c.688A>G (p.Ile230Val)	CDC7 (I230V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2610751	NM_003503.4(CDC7):c.712C>G (p.Leu238Val)	CDC7 (L238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220724	NM_003503.4(CDC7):c.747G>T (p.Gln249His)	CDC7 (Q249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521091	NM_003503.4(CDC7):c.761C>G (p.Ala254Gly)	CDC7 (A254G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317036	NM_003503.4(CDC7):c.764C>T (p.Ser255Phe)	CDC7 (S255F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620638	NM_003503.4(CDC7):c.766G>A (p.Val256Ile)	CDC7 (V256I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216100	NM_003503.4(CDC7):c.775C>T (p.Pro259Ser)	CDC7 (P259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396588	NM_003503.4(CDC7):c.800T>C (p.Ile267Thr)	CDC7 (I267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206249	NM_003503.4(CDC7):c.817G>A (p.Gly273Arg)	CDC7 (G273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208716	NM_003503.4(CDC7):c.997A>G (p.Met333Val)	CDC7 (M333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312836	NM_003503.4(CDC7):c.1282A>G (p.Met428Val)	CDC7 (M428V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595815	NM_003503.4(CDC7):c.1715T>A (p.Met572Lys)	CDC7 (M572K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685811	GRCh37/hg19 1p22.2-22.1(chr1:91831195-92310841)x3	CDC7, HFM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979887	GRCh37/hg19 1p22.2-22.1(chr1:91626271-92080577)x3	CDC7, HFM1	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565124	GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3	TGFBR3, GLMN +13 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 35