"Ambry Genetics"[submitter] AND "RGP1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2327380	NM_001080496.3(RGP1):c.25A>C (p.Ser9Arg)	RGP1 (S9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229360	NM_001080496.3(RGP1):c.190C>T (p.Pro64Ser)	RGP1 (P64S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377701	NM_001080496.3(RGP1):c.341C>G (p.Ser114Cys)	RGP1 (S114C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474088	NM_001080496.3(RGP1):c.430C>T (p.Arg144Cys)	RGP1 (R144C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360473	NM_001080496.3(RGP1):c.431G>A (p.Arg144His)	RGP1 (R144H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278956	NM_001080496.3(RGP1):c.496G>T (p.Asp166Tyr)	RGP1 (D166Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462176	NM_001080496.3(RGP1):c.829G>C (p.Gly277Arg)	RGP1 (G277R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401872	NM_001080496.3(RGP1):c.1021C>G (p.Pro341Ala)	RGP1 (P341A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385358	NM_001080496.3(RGP1):c.1021C>T (p.Pro341Ser)	RGP1 (P341S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462508	NM_001080496.3(RGP1):c.1124C>A (p.Thr375Asn)	RGP1 (T375N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458725	NM_001044264.3(MSMP):c.4G>A (p.Ala2Thr)	MSMP, RGP1 (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance