Related gene-specific medical variations for Gene (Select 64121) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156378	NM_022157.4(RRAGC):c.58G>C (p.Asp20His)	LOC112577596, RRAGC (D20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663872	NM_022157.4(RRAGC):c.224C>A (p.Ser75Tyr)	LOC112577596, RRAGC (S75Y)	Single nucleotide variant (missense variant)	Long-Olsen-Distelmaier syndrome	GPathogenic
Select item 2523287	NM_022157.4(RRAGC):c.131T>C (p.Val44Ala)	LOC112577596, RRAGC (V44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472266	NM_022157.4(RRAGC):c.52G>A (p.Ala18Thr)	LOC112577596, RRAGC (A18T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309420	NM_022157.4(RRAGC):c.160C>T (p.Pro54Ser)	LOC112577596, RRAGC (P54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266832	NM_022157.4(RRAGC):c.96G>C (p.Glu32Asp)	LOC112577596, RRAGC (E32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228332	NM_022157.4(RRAGC):c.128G>T (p.Gly43Val)	LOC112577596, RRAGC (G43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225580	NM_022157.4(RRAGC):c.164G>C (p.Gly55Ala)	LOC112577596, RRAGC (G55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1224625	NM_022157.4(RRAGC):c.237+19A>G	LOC112577596, RRAGC	Single nucleotide variant (intron variant)	not provided	GBenign