"GeneDx"[submitter] AND "CDC5L"[gene] - ClinVar

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Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 1281135	NM_001318876.2(POLR1C):c.946-54399A>C	CDC5L	Single nucleotide variant	not provided	GBenign
Select item 1281488	NM_001253.3(CDC5L):c.-162G>T	CDC5L, LOC129996571	Single nucleotide variant	not provided	GBenign
Select item 1265429	NM_001253.3(CDC5L):c.-138C>T	LOC129996571, CDC5L	Single nucleotide variant	not provided	GBenign
Select item 1240804	NM_001253.4(CDC5L):c.45+77G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273866	NM_001253.4(CDC5L):c.45+94T>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237785	NM_001253.4(CDC5L):c.46-121T>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275507	NM_001253.4(CDC5L):c.149+336T>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274048	NM_001253.4(CDC5L):c.150-249T>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282740	NM_001253.4(CDC5L):c.279G>A (p.Ala93=)	CDC5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1281090	NM_001253.4(CDC5L):c.311+115A>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228167	NM_001253.4(CDC5L):c.708C>T (p.Asp236=)	CDC5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1183251	NM_001253.4(CDC5L):c.903+263A>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240583	NM_001253.4(CDC5L):c.903+304G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287262	NM_001253.4(CDC5L):c.904-262T>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258468	NM_001253.4(CDC5L):c.1241+183C>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231819	NM_001253.4(CDC5L):c.1241+256C>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244013	NM_001253.4(CDC5L):c.1404+218G>T	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230671	NM_001253.4(CDC5L):c.1405-140A>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223224	NM_001253.4(CDC5L):c.1569+194G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279357	NM_001253.4(CDC5L):c.1570-205G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241840	NM_001253.4(CDC5L):c.1894-169G>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222022	NM_001253.4(CDC5L):c.2091+235T>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224161	NM_001253.4(CDC5L):c.2163T>A (p.Leu721=)	CDC5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1230408	NM_001253.4(CDC5L):c.2304+132A>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 26