"GeneDx"[submitter] AND "PIDD1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3343355	NM_145886.4(PIDD1):c.2636A>G (p.Lys879Arg)	PIDD1 (K862R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712526	NM_145886.4(PIDD1):c.2626G>A (p.Gly876Ser)	PIDD1 (G859S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686877	NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp)	PIDD1 (R845W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3364299	NM_145886.4(PIDD1):c.2406C>G (p.Asp802Glu)	PIDD1 (D785E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683905	NM_145886.4(PIDD1):c.2173C>T (p.Arg725Cys)	PIDD1 (R708C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3343304	NM_145886.4(PIDD1):c.2140G>A (p.Ala714Thr)	PIDD1 (A714T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430140	NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)	PIDD1 (R637*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2456362	NM_145886.4(PIDD1):c.1814G>A (p.Arg605Gln)	PIDD1 (R605Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3343491	NM_145886.4(PIDD1):c.1388C>T (p.Pro463Leu)	PIDD1 (P463L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338956	NM_145886.4(PIDD1):c.1303-20T>A	PIDD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274936	NM_145886.4(PIDD1):c.710-11A>C	PIDD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662925	NM_145886.4(PIDD1):c.514G>A (p.Ala172Thr)	PIDD1 (A172T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2223194	NM_145886.4(PIDD1):c.278G>A (p.Arg93His)	PIDD1 (R93H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2581475	NM_145886.4(PIDD1):c.202_203del (p.Arg68fs)	PIDD1 (R68fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3365714	NM_145886.4(PIDD1):c.133G>A (p.Gly45Arg)	PIDD1 (G45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253804	GRCh37/hg19 11p15.5(chr11:680365-827724)x3	TMEM80, CRACR2B +9 more	Copy number gain	See cases	GUncertain significance
Select item 3360377	NM_145886.4(PIDD1):c.2416G>A (p.Val806Met)	PIDD1 (V789M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance