PRP4K[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219206	NM_003913.5(PRP4K):c.28C>T (p.Arg10Trp)	PRP4K (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219204	NM_003913.5(PRP4K):c.173A>G (p.Lys58Arg)	PRP4K (K58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783453	NM_003913.5(PRP4K):c.204A>G (p.Lys68=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2411387	NM_003913.5(PRP4K):c.233A>G (p.His78Arg)	PRP4K (H78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299340	NM_003913.5(PRP4K):c.375G>A (p.Met125Ile)	PRP4K (M125I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355686	NM_003913.5(PRP4K):c.496A>G (p.Ser166Gly)	PRP4K (S166G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518236	NM_003913.5(PRP4K):c.518T>C (p.Leu173Pro)	PRP4K (L173P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310386	NM_003913.5(PRP4K):c.532A>G (p.Ile178Val)	PRP4K (I178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518147	NM_003913.5(PRP4K):c.548G>A (p.Arg183Gln)	PRP4K (R183Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294866	NM_003913.5(PRP4K):c.571C>T (p.Arg191Trp)	PRP4K (R191W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455100	NM_003913.5(PRP4K):c.794T>C (p.Ile265Thr)	PRP4K (I265T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285664	NM_003913.5(PRP4K):c.818A>G (p.Asp273Gly)	PRP4K (D273G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219207	NM_003913.5(PRP4K):c.913A>G (p.Arg305Gly)	PRP4K (R305G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2276697	NM_003913.5(PRP4K):c.923G>A (p.Arg308Gln)	PRP4K (R308Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219200	NM_003913.5(PRP4K):c.1030A>G (p.Arg344Gly)	PRP4K (R344G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310384	NM_003913.5(PRP4K):c.1040G>C (p.Gly347Ala)	PRP4K (G347A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374810	NM_003913.5(PRP4K):c.1043G>A (p.Arg348His)	PRP4K (R348H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468610	NM_003913.5(PRP4K):c.1120A>G (p.Arg374Gly)	PRP4K (R374G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607648	NM_003913.5(PRP4K):c.1150C>T (p.Arg384Trp)	PRP4K (R384W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261908	NM_003913.5(PRP4K):c.1196G>C (p.Arg399Thr)	PRP4K (R399T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219202	NM_003913.5(PRP4K):c.1223G>A (p.Arg408Gln)	PRP4K (R408Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263285	NM_003913.5(PRP4K):c.1250G>A (p.Arg417Gln)	PRP4K (R417Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377846	NM_003913.5(PRP4K):c.1271G>A (p.Arg424His)	PRP4K (R424H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656187	NM_003913.5(PRP4K):c.1318C>A (p.Arg440=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2397442	NM_003913.5(PRP4K):c.1319G>A (p.Arg440Gln)	PRP4K (R440Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656188	NM_003913.5(PRP4K):c.1392A>G (p.Arg464=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2377184	NM_003913.5(PRP4K):c.1392A>C (p.Arg464Ser)	PRP4K (R464S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365117	NM_003913.5(PRP4K):c.1406G>A (p.Arg469Gln)	PRP4K (R469Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219203	NM_003913.5(PRP4K):c.1438C>T (p.Arg480Cys)	PRP4K (R480C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314422	NM_003913.5(PRP4K):c.1445G>C (p.Arg482Pro)	PRP4K (R482P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656189	NM_003913.5(PRP4K):c.1464C>T (p.Arg488=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656190	NM_003913.5(PRP4K):c.2175-4T>G	PRP4K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2317749	NM_003913.5(PRP4K):c.2287C>T (p.Leu763Phe)	PRP4K (L763F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727281	NM_003913.5(PRP4K):c.2406A>G (p.Ala802=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1678343	NM_003913.5(PRP4K):c.2474A>T (p.Glu825Val)	PRP4K (E825V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3219205	NM_003913.5(PRP4K):c.2747G>T (p.Gly916Val)	PRP4K (G916V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 36