"Ambry Genetics"[submitter] AND "LOC101927178"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2221327	NM_173607.5(FAM177A1):c.641A>G (p.Asn214Ser)	FAM177A1, LOC101927178 (N191S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279688	NM_173607.5(FAM177A1):c.661A>C (p.Ser221Arg)	LOC101927178, FAM177A1 (S198R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316950	NM_173607.5(FAM177A1):c.704C>T (p.Pro235Leu)	LOC101927178, FAM177A1 (P235L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560943	NM_017917.4(PPP2R3C):c.1347C>A (p.Asp449Glu)	PPP2R3C, LOC101927178 (D449E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274805	NM_017917.4(PPP2R3C):c.1279T>A (p.Leu427Met)	PPP2R3C, LOC101927178 (L427M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558221	NM_017917.4(PPP2R3C):c.1238A>G (p.Asn413Ser)	LOC101927178, PPP2R3C (N413S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411539	NM_017917.4(PPP2R3C):c.1132A>G (p.Lys378Glu)	LOC101927178, PPP2R3C (K268E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595836	NM_017917.4(PPP2R3C):c.1087G>A (p.Val363Ile)	LOC101927178, PPP2R3C (V253I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329235	NM_017917.4(PPP2R3C):c.938G>A (p.Arg313His)	LOC101927178, PPP2R3C (R203H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239309	NM_017917.4(PPP2R3C):c.859A>G (p.Lys287Glu)	LOC101927178, PPP2R3C (K177E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214957	NM_017917.4(PPP2R3C):c.856G>A (p.Asp286Asn)	PPP2R3C, LOC101927178 (D176N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236808	NM_017917.4(PPP2R3C):c.779T>C (p.Leu260Pro)	LOC101927178, PPP2R3C (L260P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456147	NM_017917.4(PPP2R3C):c.678C>G (p.Phe226Leu)	LOC101927178, PPP2R3C (F116L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545099	NM_017917.4(PPP2R3C):c.320A>G (p.Gln107Arg)	LOC101927178, PPP2R3C (Q107R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance