"PreventionGenetics, part of Exact Sciences"[submitter] AND "AP1B1"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039348	NM_001127.4(AP1B1):c.2738G>A (p.Arg913Gln)	AP1B1 (R844Q +5 more)	Single nucleotide variant (missense variant)	AP1B1-related disorder +1 more	GLikely benign
Select item 3056347	NM_001127.4(AP1B1):c.2524+5G>A	AP1B1	Single nucleotide variant (intron variant)	AP1B1-related disorder	GLikely benign
Select item 3054748	NM_001127.4(AP1B1):c.2309+8C>T	AP1B1	Single nucleotide variant (intron variant)	AP1B1-related disorder	GLikely benign
Select item 3054018	NM_001127.4(AP1B1):c.2164-8C>T	AP1B1	Single nucleotide variant (intron variant)	AP1B1-related disorder	GLikely benign
Select item 3049847	NM_001127.4(AP1B1):c.1827C>G (p.Ala609=)	AP1B1	Single nucleotide variant (synonymous variant +1 more)	AP1B1-related disorder	GLikely benign
Select item 3053363	NM_001127.4(AP1B1):c.1765G>A (p.Val589Met)	AP1B1 (V532M +1 more)	Single nucleotide variant (missense variant +1 more)	AP1B1-related disorder	GLikely benign
Select item 3034306	NM_001127.4(AP1B1):c.1735A>G (p.Ser579Gly)	AP1B1 (M579V +2 more)	Single nucleotide variant (missense variant)	AP1B1-related disorder	GLikely benign
Select item 3049727	NM_001127.4(AP1B1):c.987C>T (p.Asn329=)	AP1B1	Single nucleotide variant (synonymous variant)	AP1B1-related disorder	GLikely benign
Select item 3036048	NM_001127.4(AP1B1):c.704G>A (p.Arg235His)	AP1B1 (R178H +1 more)	Single nucleotide variant (missense variant)	AP1B1-related disorder	GLikely benign
Select item 3047984	NM_001127.4(AP1B1):c.261C>T (p.Ala87=)	AP1B1	Single nucleotide variant (synonymous variant)	AP1B1-related disorder	GLikely benign