Related gene-specific medical variations for Gene (Select 142686) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339120	NM_012096.3(APPL1):c.1983+4T>C	APPL1, ASB14	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3317237	NM_001142733.3(ASB14):c.1595G>C (p.Arg532Pro)	ASB14, LOC105377102 (R532P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130110	NM_001142733.3(ASB14):c.1590C>A (p.Asn530Lys)	ASB14, LOC105377102 (N530K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130109	NM_001142733.3(ASB14):c.1505T>G (p.Val502Gly)	ASB14, LOC105377102 (V217G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3034768	NM_012096.3(APPL1):c.1983+5A>G	APPL1, ASB14	Single nucleotide variant (3 prime UTR variant +1 more)	APPL1-related disorder	GLikely benign
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 2531687	NM_001142733.3(ASB14):c.1517G>A (p.Arg506Gln)	ASB14, LOC105377102 (R506Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2525371	NM_001142733.3(ASB14):c.1635C>G (p.Cys545Trp)	ASB14, LOC105377102 (C260W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514614	NM_001142733.3(ASB14):c.1654C>T (p.Arg552Cys)	ASB14, LOC105377102 (R552C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473060	NM_001142733.3(ASB14):c.1726G>A (p.Asp576Asn)	ASB14, LOC105377102 (D576N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462089	NM_001142733.3(ASB14):c.1742G>A (p.Gly581Glu)	ASB14, LOC105377102 (G296E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428543	NM_001142733.3(ASB14):c.*120dup	APPL1, ASB14	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2399235	NM_001142733.3(ASB14):c.1655G>A (p.Arg552His)	ASB14, LOC105377102 (R552H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388792	NM_001142733.3(ASB14):c.1693C>A (p.Arg565Ser)	ASB14, LOC105377102 (R280S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382701	NM_001142733.3(ASB14):c.1693C>T (p.Arg565Cys)	ASB14, LOC105377102 (R280C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2268674	NM_001142733.3(ASB14):c.1451T>C (p.Leu484Ser)	ASB14, LOC105377102 (L484S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248868	NM_001142733.3(ASB14):c.1573C>A (p.His525Asn)	ASB14, LOC105377102 (H525N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213407	NM_001142733.3(ASB14):c.1487G>A (p.Arg496Gln)	ASB14, LOC105377102 (R496Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2203919	NM_001142733.3(ASB14):c.1481T>C (p.Val494Ala)	ASB14, LOC105377102 (V209A +1 more)	Single nucleotide variant (non-coding transcript 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 1551890	NM_012096.3(APPL1):c.1983+7A>G	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 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 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

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Items: 33