"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CDC45"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 809317	NM_003504.5(CDC45):c.19C>G (p.Arg7Gly)	CDC45 (R7G)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 775656	NM_003504.5(CDC45):c.241G>A (p.Val81Ile)	CDC45 (V69I +1 more)	Single nucleotide variant (missense variant +2 more)	CDC45-related condition +1 more	GBenign
Select item 809318	NM_003504.5(CDC45):c.418G>A (p.Asp140Asn)	CDC45 (D94N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 716032	NM_003504.5(CDC45):c.542+130C>G	CDC45 (S183C)	Single nucleotide variant (missense variant +1 more)	CDC45-related condition +1 more	GBenign/Likely benign
Select item 714010	NM_003504.5(CDC45):c.768C>T (p.Asn256=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 872335	NM_003504.5(CDC45):c.1416C>T (p.His472=)	CDC45	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2652864	NM_003504.5(CDC45):c.1515C>T (p.Thr505=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168401	NM_003504.5(CDC45):c.1575G>A (p.Ala525=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 253101	NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)	CDC45 (R554W +3 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 7 +1 more	GConflicting classifications of pathogenicity
Select item 872336	NM_003504.5(CDC45):c.*1+5G>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	ESS2, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	PI4KA, PRODH +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	CLDN5, CLTCL1 +45 more	Copy number loss	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	P2RX6, PI4KA +45 more	Copy number gain	not provided	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	COMT, FAM230A +45 more	Copy number loss	not provided	GPathogenic