"PreventionGenetics, part of Exact Sciences"[submitter] AND "CDC5L"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034944	NM_001253.4(CDC5L):c.-7C>T	CDC5L, POLR1C	Single nucleotide variant (5 prime UTR variant +1 more)	CDC5L-related condition	GLikely benign
Select item 3040564	NM_001253.4(CDC5L):c.-2A>G	CDC5L, POLR1C	Single nucleotide variant (5 prime UTR variant +1 more)	CDC5L-related condition	GLikely benign
Select item 3043958	NM_001253.4(CDC5L):c.66G>A (p.Ala22=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GLikely benign
Select item 2629345	NM_001253.4(CDC5L):c.147A>G (p.Arg49=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GUncertain significance
Select item 3031500	NM_001253.4(CDC5L):c.237A>G (p.Pro79=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GLikely benign
Select item 3048165	NM_001253.4(CDC5L):c.526T>C (p.Leu176=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GLikely benign
Select item 3037280	NM_001253.4(CDC5L):c.904-10G>A	CDC5L, POLR1C	Single nucleotide variant (intron variant)	CDC5L-related condition	GLikely benign
Select item 3040390	NM_001253.4(CDC5L):c.915A>G (p.Ala305=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GBenign
Select item 742232	NM_001253.4(CDC5L):c.929T>C (p.Val310Ala)	CDC5L, POLR1C (V310A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3048800	NM_001253.4(CDC5L):c.1140A>G (p.Lys380=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GLikely benign
Select item 2629510	NM_001253.4(CDC5L):c.1277G>A (p.Arg426Gln)	CDC5L, POLR1C (R426Q)	Single nucleotide variant (missense variant +1 more)	CDC5L-related condition	GUncertain significance
Select item 3044773	NM_001253.4(CDC5L):c.1376A>G (p.Tyr459Cys)	CDC5L, POLR1C (Y459C)	Single nucleotide variant (missense variant +1 more)	CDC5L-related condition	GBenign
Select item 3043490	NM_001253.4(CDC5L):c.1500G>A (p.Lys500=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GLikely benign
Select item 3031164	NM_001253.4(CDC5L):c.1548T>C (p.Ala516=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GLikely benign
Select item 2631792	NM_001253.4(CDC5L):c.1745T>G (p.Met582Arg)	CDC5L, POLR1C (M582R)	Single nucleotide variant (missense variant +1 more)	CDC5L-related condition	GUncertain significance
Select item 3044987	NM_001253.4(CDC5L):c.2160G>C (p.Leu720Phe)	CDC5L, POLR1C (L720F)	Single nucleotide variant (missense variant +1 more)	CDC5L-related condition	GBenign