ClinVar for MedGen (Select 1808159) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254686	NM_145886.4(PIDD1):c.277C>T (p.Arg93Cys)	PIDD1 (R93C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 3254685	NM_145886.4(PIDD1):c.296-1G>A	PIDD1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GLikely pathogenic
Select item 3236567	NM_145886.4(PIDD1):c.76G>A (p.Gly26Arg)	PIDD1 (G26R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 3236566	NM_145886.4(PIDD1):c.744C>G (p.His248Gln)	PIDD1 (H248Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 3067912	NM_145886.4(PIDD1):c.1303-10_1303-9insT	PIDD1	Insertion (intron variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 3065217	NM_145886.4(PIDD1):c.2017G>C (p.Glu673Gln)	PIDD1 (E673Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 2664234	NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)	PIDD1 (R682C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 2581475	NM_145886.4(PIDD1):c.202_203del (p.Arg68fs)	PIDD1 (R68fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 2430140	NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)	PIDD1 (R637*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 1686879	NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs)	PIDD1 (G602fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 1686878	NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs)	PIDD1 (V706fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 1686877	NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp)	PIDD1 (R845W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 1686876	NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp)	PIDD1 (R798W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 1686875	NM_145886.4(PIDD1):c.2275-1G>A	PIDD1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 1333713	NM_145886.4(PIDD1):c.2042-2A>G	PIDD1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly +4 more	GConflicting classifications of pathogenicity
Select item 929836	NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)	PIDD1 (Q846* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +1 more	GPathogenic
Select item 720379	NM_145886.4(PIDD1):c.2042-8T>C	PIDD1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign