"Baylor Genetics"[submitter] AND "PDZD9"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430295	NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His)	PDZD9, UQCRC2 (Y121H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032124	NM_003366.4(UQCRC2):c.661A>T (p.Ile221Phe)	PDZD9, UQCRC2 (I221F)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 1029699	NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro)	PDZD9, UQCRC2 (S410P)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 625754	GRCh37/hg19 16p12.2(chr16:21973828-22361172)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625686	GRCh37/hg19 16p12.2(chr16:21964083-22386845)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 625677	GRCh37/hg19 16p12.2(chr16:21973828-22361172)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625599	GRCh37/hg19 16p12.2(chr16:21976691-22386881)	POLR3E, SDR42E2 +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 625577	GRCh37/hg19 16p12.2(chr16:21943463-22702769)	CDR2, EEF2K +7 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625576	GRCh37/hg19 16p12.2(chr16:21884192-22288219)	SDR42E2, EEF2K +4 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic