ClinVar for MedGen (Select 908119) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921225	NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)	APPL1 (R275Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 14	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 1678586	NM_012096.3(APPL1):c.1926A>G (p.Ile642Met)	APPL1, ASB14 (I642M)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 14 +1 more	GLikely benign
Select item 1336005	NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)	APPL1 (P421L)	Single nucleotide variant (missense variant)	APPL1-related disorder +3 more	GBenign/Likely benign
Select item 1170466	NM_012096.3(APPL1):c.69A>G (p.Leu23=)	APPL1	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 14 +1 more	GBenign
Select item 778086	NM_012096.3(APPL1):c.219T>C (p.Phe73=)	APPL1	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 14 +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 +3 more	GBenign/Likely benign
Select item 712437	NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu)	APPL1 (D334E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 208075	NM_012096.3(APPL1):c.280G>A (p.Asp94Asn)	APPL1 (D94N)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 14	GPathogenic
Select item 208074	NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter)	APPL1 (L552*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 14	GPathogenic