Related gene-specific medical variations for Gene (Select 26060) - ClinVar

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

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3128081	NM_012096.3(APPL1):c.47G>T (p.Ser16Ile)	APPL1, LOC129936926 (S16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034768	NM_001142733.3(ASB14):c.*1149T>C	APPL1, ASB14	Single nucleotide variant (3 prime UTR variant +1 more)	APPL1-related disorder	GLikely benign
Select item 2987151	NM_012096.3(APPL1):c.5C>A (p.Pro2Gln)	APPL1, LOC129936926 (P2Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982755	NM_012096.3(APPL1):c.50C>G (p.Pro17Arg)	APPL1, LOC129936926 (P17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961791	NM_012096.3(APPL1):c.1916A>G (p.Gln639Arg)	APPL1, ASB14 (Q639R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2717386	NM_012096.3(APPL1):c.1898G>A (p.Arg633His)	APPL1, ASB14 (R633H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2653911	NM_012096.3(APPL1):c.1898G>T (p.Arg633Leu)	APPL1, ASB14 (R633L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2428706	NM_012096.3(APPL1):c.374-9C>T	APPL1	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 14	GLikely benign
Select item 2428543	NM_001142733.3(ASB14):c.*120dup	APPL1, ASB14	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2306817	NM_012096.3(APPL1):c.1933G>C (p.Val645Leu)	APPL1, ASB14 (V645L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2089130	NM_012096.3(APPL1):c.2046G>A (p.Glu682=)	APPL1, ASB14 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1923374	NM_012096.3(APPL1):c.2111A>G (p.Lys704Arg)	APPL1, ASB14 +1 more (K704R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1678586	NM_012096.3(APPL1):c.1926A>G (p.Ile642Met)	APPL1, ASB14 (I642M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1656468	NM_012096.3(APPL1):c.54+10G>A	APPL1, LOC129936926	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646880	NM_012096.3(APPL1):c.9G>A (p.Gly3=)	APPL1, LOC129936926	Single nucleotide variant (synonymous variant)	APPL1-related disorder +1 more	GBenign
Select item 1551890	NM_001142733.3(ASB14):c.*1147T>C	APPL1, ASB14	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1466213	NM_012096.3(APPL1):c.2072G>A (p.Ser691Asn)	APPL1, ASB14 +1 more (S691N)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 1422648	NM_012096.3(APPL1):c.2127A>G (p.Ala709=)	APPL1, ASB14 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1336471	NM_012096.3(APPL1):c.2018C>G (p.Ser673Cys)	APPL1, ASB14 +1 more (S673C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +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 1318073	NM_012096.3(APPL1):c.-151G>C	APPL1, LOC129936926	Single nucleotide variant (5 prime UTR 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 1261640	NM_012096.3(APPL1):c.54+63C>T	APPL1, LOC129936926	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251769	NM_012096.3(APPL1):c.-18C>T	APPL1, LOC129936926	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1235569	NM_001142733.3(ASB14):c.190_191insAATTC	APPL1, ASB14	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183160	NM_012096.3(APPL1):c.36G>C (p.Thr12=)	APPL1, LOC129936926	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27