"GeneDx"[submitter] AND "AP1B1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 1234038	NM_001127.4(AP1B1):c.*146C>T	AP1B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266233	NM_001127.4(AP1B1):c.*18A>G	AP1B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1192401	NM_001127.4(AP1B1):c.2349G>A (p.Ala783=)	AP1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1232708	NM_001127.4(AP1B1):c.2164-226T>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282441	NM_001127.4(AP1B1):c.2163+182C>T	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290131	NM_001127.4(AP1B1):c.2163+27G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281322	NM_001127.4(AP1B1):c.2020-188G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248494	NM_001127.4(AP1B1):c.2019+96G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283172	NM_001127.4(AP1B1):c.1983T>C (p.Gly661=)	AP1B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279370	NM_001127.4(AP1B1):c.1537-39C>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282877	NM_001127.4(AP1B1):c.1537-74A>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251481	NM_001127.4(AP1B1):c.1438-174G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271312	NM_001127.4(AP1B1):c.1437+175A>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248319	NM_001127.4(AP1B1):c.1437+130G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249596	NM_001127.4(AP1B1):c.1156-114A>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289367	NM_001127.4(AP1B1):c.1060-157T>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258451	NM_001127.4(AP1B1):c.717-170C>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288101	NM_001127.4(AP1B1):c.526-180T>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192402	NM_001127.4(AP1B1):c.204A>G (p.Leu68=)	AP1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1290542	NM_001127.4(AP1B1):c.143+173T>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179687	NM_001127.4(AP1B1):c.143+27C>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240572	NM_001127.4(AP1B1):c.38-93G>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242365	NM_001127.4(AP1B1):c.-27-74TCC[3]	AP1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1223013	NM_001127.4(AP1B1):c.-27-192G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 26