"GeneDx"[submitter] AND "APPL1"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316564	NC_000003.12:g.57227627A>T	APPL1, LOC129936926	Single nucleotide variant	not provided	GLikely benign
Select item 1318073	NM_012096.3(APPL1):c.-151G>C	APPL1, LOC129936926	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1251769	NM_012096.3(APPL1):c.-18C>T	APPL1, LOC129936926	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1183160	NM_012096.3(APPL1):c.36G>C (p.Thr12=)	APPL1, LOC129936926	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1261640	NM_012096.3(APPL1):c.54+63C>T	APPL1, LOC129936926	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318328	NM_012096.3(APPL1):c.55-266G>C	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170466	NM_012096.3(APPL1):c.69A>G (p.Leu23=)	APPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1252726	NM_012096.3(APPL1):c.214-160G>A	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778086	NM_012096.3(APPL1):c.219T>C (p.Phe73=)	APPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 713805	NM_012096.3(APPL1):c.256T>C (p.Leu86=)	APPL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1169476	NM_012096.3(APPL1):c.285+6C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318250	NM_012096.3(APPL1):c.285+215C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317690	NM_012096.3(APPL1):c.373+248_373+256del	APPL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1289766	NM_012096.3(APPL1):c.415+96del	APPL1	Deletion (intron variant)	not provided	GBenign
Select item 1316864	NM_012096.3(APPL1):c.416-194A>G	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317771	NM_012096.3(APPL1):c.474+182A>G	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169477	NM_012096.3(APPL1):c.621+5A>G	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316927	NM_012096.3(APPL1):c.621+296C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247695	NM_012096.3(APPL1):c.704+78T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318097	NM_012096.3(APPL1):c.704+92C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236470	NM_012096.3(APPL1):c.705-211T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280700	NM_012096.3(APPL1):c.863+293C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317734	NM_012096.3(APPL1):c.864-226T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712437	NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu)	APPL1 (D334E)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 14 +1 more	GBenign/Likely benign
Select item 1247939	NM_012096.3(APPL1):c.1052+31T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235273	NM_012096.3(APPL1):c.1052+221dup	APPL1	Duplication (intron variant)	not provided	GBenign
Select item 1221546	NM_012096.3(APPL1):c.1152+184G>A	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782428	NM_012096.3(APPL1):c.1206A>G (p.Pro402=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1318405	NM_012096.3(APPL1):c.1247+40C>G	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316916	NM_012096.3(APPL1):c.1431-44A>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263979	NM_012096.3(APPL1):c.1483+189T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290473	NM_012096.3(APPL1):c.1484-71A>G	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257896	NM_012096.3(APPL1):c.1658+38C>G	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237338	NM_012096.3(APPL1):c.1695+48T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277999	NM_012096.3(APPL1):c.1695+114T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268254	NM_012096.3(APPL1):c.1842+89_1842+93del	APPL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1290844	NM_012096.3(APPL1):c.1842+96_1842+99del	APPL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1259071	NM_012096.3(APPL1):c.1842+312G>A	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317065	NM_012096.3(APPL1):c.1842+321del	APPL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1317931	NM_012096.3(APPL1):c.1893+174C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267069	NM_012096.3(APPL1):c.1894-294dup	APPL1	Duplication (intron variant)	not provided	GBenign
Select item 1317546	NM_012096.3(APPL1):c.1894-294del	APPL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1315697	NM_012096.3(APPL1):c.1930_1933del (p.Glu643_Arg644insTer)	APPL1, ASB14	Microsatellite (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1318138	NM_012096.3(APPL1):c.1961A>G (p.Asn654Ser)	APPL1, ASB14 (N654S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1235569	NM_012096.3(APPL1):c.1984-88_1984-87insTTGAA	APPL1, ASB14	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1168989	NM_012096.3(APPL1):c.2099A>G (p.Glu700Gly)	APPL1, ASB14 +1 more (E700G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 47