NUDT16-DT[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	ARMC8, ASTE1 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 59775	GRCh38/hg38 3q22.1(chr3:131273462-131383846)x3	LOC129937577, NEK11 +2 more	Copy number gain	See cases	GBenign
Select item 2260758	NM_024800.5(NEK11):c.1733A>G (p.Lys578Arg)	NEK11, NUDT16-DT (K430R +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480918	NM_024800.5(NEK11):c.1801G>A (p.Glu601Lys)	NEK11, NUDT16-DT (E417K +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2459364	NM_024800.5(NEK11):c.1813C>T (p.Arg605Cys)	NEK11, NUDT16-DT (R605C +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3191804	NM_024800.5(NEK11):c.1814G>C (p.Arg605Pro)	NEK11, NUDT16-DT (A425P +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405586	NM_024800.5(NEK11):c.1837C>T (p.Pro613Ser)	NEK11, NUDT16-DT (P429S +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2371185	NM_024800.5(NEK11):c.1885G>A (p.Glu629Lys)	NEK11, NUDT16-DT (E488K +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance