ClinVar for MedGen (Select 1684702) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362496	NM_004068.4(AP2M1):c.178C>T (p.Arg60Trp)	AP2M1 (R60W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 3254703	NM_004068.4(AP2M1):c.97C>T (p.Arg33Trp)	AP2M1 (R33W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 3064175	NM_001135638.2(PIP5K1A):c.1114C>T (p.Arg372Ter)	PIP5K1A (R359* +2 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder 60 with seizures	GLikely pathogenic
Select item 3024240	NM_004068.4(AP2M1):c.1087G>C (p.Glu363Gln)	AP2M1 (E361Q +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 2439134	NM_004068.4(AP2M1):c.916G>A (p.Val306Ile)	AP2M1 (V304I +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 1708107	NM_004068.4(AP2M1):c.538A>T (p.Ser180Cys)	AP2M1 (S178C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 1693170	NM_004068.4(AP2M1):c.707+56G>T	AP2M1	Single nucleotide variant (intron variant)	Intellectual developmental disorder 60 with seizures	GBenign
Select item 1693169	NM_004068.4(AP2M1):c.340+56G>A	AP2M1	Single nucleotide variant (intron variant)	Intellectual developmental disorder 60 with seizures	GBenign
Select item 1610043	NM_004068.4(AP2M1):c.75-4T>C	AP2M1	Single nucleotide variant (intron variant)	Intellectual developmental disorder 60 with seizures +2 more	GBenign
Select item 1598839	NM_004068.4(AP2M1):c.565+17G>A	AP2M1	Single nucleotide variant (intron variant)	Intellectual developmental disorder 60 with seizures +1 more	GBenign
Select item 1299229	NM_004068.4(AP2M1):c.911A>C (p.Lys304Thr)	AP2M1 (K302T +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 1285449	NM_004068.4(AP2M1):c.73G>A (p.Gly25Arg)	AP2M1, LOC123453202 (G25R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 1283914	NM_004068.4(AP2M1):c.529G>T (p.Val177Leu)	AP2M1 (V175L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GLikely benign
Select item 1192406	NM_004068.4(AP2M1):c.1185G>A (p.Ala395=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1192405	NM_004068.4(AP2M1):c.1173+73T>C	AP2M1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1192404	NM_004068.4(AP2M1):c.960C>T (p.Ile320=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1170246	NM_004068.4(AP2M1):c.1293T>C (p.Tyr431=)	AP2M1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder 60 with seizures +1 more	GBenign/Likely benign
Select item 689722	NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)	AP2M1 (R170W +2 more)	Single nucleotide variant (missense variant)	Autism +4 more	GConflicting classifications of pathogenicity