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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 1223310	NM_005932.4(MIPEP):c.189+139G>C	MIPEP, PCOTH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2579965	NM_005932.4(MIPEP):c.18G>T (p.Arg6Ser)	MIPEP, PCOTH (R6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276392	NM_001014442.4(PCOTH):c.-186+468C>G	MIPEP, PCOTH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 253904	GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3	TNFRSF19, C1QTNF9 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

ClinVar