PGS1[gene] and "single gene"[properties] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2526486	NM_024419.5(PGS1):c.4G>A (p.Ala2Thr)	PGS1 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211919	NM_024419.5(PGS1):c.14C>A (p.Ala5Glu)	PGS1 (A5E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306048	NM_024419.5(PGS1):c.26C>T (p.Ala9Val)	PGS1 (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400124	NM_024419.5(PGS1):c.37T>C (p.Phe13Leu)	PGS1 (F13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211915	NM_024419.5(PGS1):c.109C>T (p.Arg37Cys)	PGS1 (R37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211916	NM_024419.5(PGS1):c.140G>T (p.Arg47Met)	PGS1 (R47M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557451	NM_024419.5(PGS1):c.371C>T (p.Ala124Val)	PGS1 (A124V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211920	NM_024419.5(PGS1):c.418T>C (p.Cys140Arg)	PGS1 (C140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601102	NM_024419.5(PGS1):c.497C>A (p.Thr166Lys)	PGS1 (T166K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403534	NM_024419.5(PGS1):c.512G>C (p.Gly171Ala)	PGS1 (G171A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211921	NM_024419.5(PGS1):c.551G>A (p.Arg184Gln)	PGS1 (R184Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2541797	NM_024419.5(PGS1):c.590C>A (p.Thr197Lys)	PGS1 (T197K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554263	NM_024419.5(PGS1):c.593C>T (p.Pro198Leu)	PGS1 (P198L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211922	NM_024419.5(PGS1):c.614G>A (p.Arg205Gln)	PGS1 (R205Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235321	NM_024419.5(PGS1):c.743G>A (p.Arg248His)	PGS1 (R248H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367946	NM_024419.5(PGS1):c.788C>T (p.Thr263Met)	PGS1 (T263M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559140	NM_024419.5(PGS1):c.803C>T (p.Ala268Val)	PGS1 (A268V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211923	NM_024419.5(PGS1):c.886C>T (p.Arg296Trp)	PGS1 (R296W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306049	NM_024419.5(PGS1):c.902A>G (p.Lys301Arg)	PGS1 (K301R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214367	NM_024419.5(PGS1):c.911A>G (p.Asn304Ser)	PGS1 (N304S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306050	NM_024419.5(PGS1):c.991C>A (p.Leu331Ile)	PGS1 (L331I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211912	NM_024419.5(PGS1):c.1004A>G (p.Glu335Gly)	PGS1 (E335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211913	NM_024419.5(PGS1):c.1010C>G (p.Ala337Gly)	PGS1 (A337G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211914	NM_024419.5(PGS1):c.1037C>A (p.Ala346Asp)	PGS1 (A346D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598803	NM_024419.5(PGS1):c.1106C>T (p.Thr369Ile)	PGS1 (T369I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338406	NM_024419.5(PGS1):c.1186A>G (p.Met396Val)	PGS1 (M396V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217683	NM_024419.5(PGS1):c.1220A>G (p.Gln407Arg)	PGS1 (Q407R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250958	NM_024419.5(PGS1):c.1279G>T (p.Ala427Ser)	PGS1 (A427S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306051	NM_024419.5(PGS1):c.1298T>G (p.Val433Gly)	PGS1 (V433G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306047	NM_024419.5(PGS1):c.1351C>T (p.Arg451Trp)	PGS1 (R451W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546247	NM_024419.5(PGS1):c.1372T>C (p.Trp458Arg)	PGS1 (W458R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319457	NM_024419.5(PGS1):c.1388C>T (p.Thr463Met)	PGS1 (T463M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648340	NM_024419.5(PGS1):c.1395C>T (p.His465=)	PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3211917	NM_024419.5(PGS1):c.1432C>G (p.Leu478Val)	PGS1 (L478V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211918	NM_024419.5(PGS1):c.1485C>G (p.His495Gln)	PGS1 (H495Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623437	NM_024419.5(PGS1):c.1513G>A (p.Val505Met)	PGS1 (V505M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249082	NM_024419.5(PGS1):c.1595C>T (p.Ala532Val)	PGS1 (A532V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408789	NM_024419.5(PGS1):c.1610C>T (p.Pro537Leu)	PGS1 (P537L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38