"GeneDx"[submitter] AND "PDE10A"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 152411	GRCh38/hg38 6q27(chr6:165126689-165424436)x3	C6orf118, LOC126859883 +2 more	Copy number gain	See cases	GLikely benign
Select item 3368675	NM_001385079.1(PDE10A):c.3002T>G (p.Ile1001Ser)	PDE10A (I1001S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488874	NM_001385079.1(PDE10A):c.2889G>A (p.Trp963Ter)	PDE10A (W697* +2 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1306400	NM_001385079.1(PDE10A):c.2729A>G (p.Gln910Arg)	PDE10A (Q634R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800843	NM_001385079.1(PDE10A):c.2611-2A>G	PDE10A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1723772	NM_001385079.1(PDE10A):c.2570T>C (p.Met857Thr)	PDE10A (M581T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311458	NM_001385079.1(PDE10A):c.1847T>G (p.Val616Gly)	PDE10A (V340G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225635	NM_001385079.1(PDE10A):c.1798T>C (p.Phe600Leu)	PDE10A (F334L +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1699773	NM_001385079.1(PDE10A):c.1591G>A (p.Asp531Asn)	PDE10A (D255N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503310	NM_001385079.1(PDE10A):c.1423G>A (p.Asp475Asn)	PDE10A (D199N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 151593	GRCh38/hg38 6q27(chr6:165631374-166361022)x3	LINC00473, LINC00602 +25 more	Copy number gain	See cases	GUncertain significance
Select item 151592	GRCh38/hg38 6q27(chr6:165631374-166405780)x3	LINC00473, LINC00602 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2443408	NM_001385079.1(PDE10A):c.860G>A (p.Ser287Asn)	PDE10A (S21N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic