Related gene-specific medical variations for Gene (Select 1173) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246994	NC_000003.11:g.(?_183894782)_(183901404_?)dup	AP2M1	Duplication	not provided	GUncertain significance
Select item 3055975	NM_004068.4(AP2M1):c.74+513T>C	AP2M1, LOC123453202 (S38P)	Single nucleotide variant (missense variant +1 more)	AP2M1-related disorder	GBenign
Select item 2909850	NM_004068.4(AP2M1):c.55G>A (p.Val19Ile)	AP2M1, LOC123453202 (V19I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869511	NM_004068.4(AP2M1):c.36G>A (p.Gly12=)	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844971	NM_004068.4(AP2M1):c.74+7C>T	AP2M1, LOC123453202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766094	NM_004068.4(AP2M1):c.68A>C (p.Asp23Ala)	AP2M1, LOC123453202 (D23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714255	NM_004068.4(AP2M1):c.26del (p.Asn9fs)	AP2M1, LOC123453202 (N9fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2654308	NM_004068.4(AP2M1):c.-3G>A	AP2M1, LOC123453202	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2578954	NM_004068.4(AP2M1):c.74+485G>T	AP2M1, LOC123453202 (Q28H)	Single nucleotide variant (missense variant +1 more)	AP2M1-related disorder +1 more	GLikely benign
Select item 2498945	NM_004068.4(AP2M1):c.74+509T>C	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2027471	NM_004068.4(AP2M1):c.54_55dup (p.Val19fs)	AP2M1, LOC123453202 (V19fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1934998	NM_004068.4(AP2M1):c.48C>T (p.Ile16=)	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667905	NM_004068.4(AP2M1):c.50C>T (p.Ser17Phe)	AP2M1, LOC123453202 (S17F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1610509	NM_004068.4(AP2M1):c.74+14C>T	AP2M1, LOC123453202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531627	NM_004068.4(AP2M1):c.30C>T (p.His10=)	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531323	NM_004068.4(AP2M1):c.42G>C (p.Val14=)	LOC123453202, AP2M1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1397790	NM_004068.4(AP2M1):c.74+6T>C	AP2M1, LOC123453202	Single nucleotide variant (intron variant)	not provided	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