"PreventionGenetics, part of Exact Sciences"[submitter] AND "AP4M1"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634768	NM_004722.4(AP4M1):c.57C>T (p.Asp19=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	GUncertain significance
Select item 386755	NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)	AP4M1 (E99K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GConflicting classifications of pathogenicity
Select item 210212	NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)	AP4M1 (E111D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +3 more	GConflicting classifications of pathogenicity
Select item 1083434	NM_004722.4(AP4M1):c.351+9C>G	AP4M1	Single nucleotide variant (intron variant)	AP4M1-related disorder +1 more	GLikely benign
Select item 695411	NM_004722.4(AP4M1):c.525G>A (p.Leu175=)	AP4M1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1639676	NM_004722.4(AP4M1):c.544-16TC[3]	AP4M1	Microsatellite (intron variant)	Hereditary spastic paraplegia 50 +1 more	GLikely benign
Select item 3053661	NM_004722.4(AP4M1):c.555T>C (p.Asn185=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	GLikely benign
Select item 218652	NM_004722.4(AP4M1):c.930G>A (p.Arg310=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 183357	NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	AP4M1 (R318* +1 more)	Single nucleotide variant (nonsense)	AP4M1-related disorder +1 more	GPathogenic
Select item 1085724	NM_004722.4(AP4M1):c.981C>T (p.Ala327=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder +1 more	GLikely benign
Select item 3061696	NM_004722.4(AP4M1):c.1041G>C (p.Leu347=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	GLikely benign
Select item 570275	NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp)	AP4M1 (A360D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GConflicting classifications of pathogenicity
Select item 3033772	NM_004722.4(AP4M1):c.1113C>G (p.Gly371=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	GLikely benign
Select item 1174617	NM_004722.4(AP4M1):c.1137+1G>T	AP4M1	Single nucleotide variant (splice donor variant)	AP4M1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 700583	NM_004722.4(AP4M1):c.1293C>T (p.Cys431=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50 +2 more	GConflicting classifications of pathogenicity
Select item 210207	NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)	AP4M1 (A448T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +4 more	GConflicting classifications of pathogenicity
Select item 748241	NM_139315.3(TAF6):c.1770C>T (p.Thr590=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3059325	NM_139315.3(TAF6):c.1710C>T (p.Pro570=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	TAF6-related disorder	GLikely benign
Select item 2201183	NM_139315.3(TAF6):c.1620A>C (p.Val540=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	TAF6-related disorder +1 more	GLikely benign
Select item 734129	NM_139315.3(TAF6):c.1539C>T (p.Ile513=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	TAF6-related disorder +1 more	GBenign
Select item 3032327	NM_139315.3(TAF6):c.1458+10C>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	TAF6-related disorder	GLikely benign
Select item 786742	NM_139315.3(TAF6):c.1396G>T (p.Ala466Ser)	AP4M1, TAF6 (A503S +3 more)	Single nucleotide variant (missense variant +2 more)	TAF6-related disorder +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22