"Ambry Genetics"[submitter] AND "LOC105377102"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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