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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 95744	NM_015910.7(WDPCP):c.1915+13G>A	WDPCP	Single nucleotide variant (intron variant)	Heart defect - tongue hamartoma - polysyndactyly syndrome +5 more	GBenign
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 336766	NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)	WDPCP (E365G +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 858210	NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)	WDPCP (E202V +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +3 more	GUncertain significance
Select item 596732	NM_015910.7(WDPCP):c.385C>G (p.Leu129Val)	WDPCP (L129V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 596735	NM_015910.7(WDPCP):c.385-3del	WDPCP	Deletion (intron variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 220911	NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)	WDPCP (I59N +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1036133	NM_015910.7(WDPCP):c.124C>T (p.His42Tyr)	WDPCP (H18Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance