Related gene-specific medical variations for Gene (Select 100874032) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2566750	NM_207351.5(PRRT3):c.760T>C (p.Ser254Pro)	PRRT3, PRRT3-AS1 (S254P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547269	NM_207351.5(PRRT3):c.1502G>A (p.Arg501Gln)	PRRT3, PRRT3-AS1 (R501Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545832	NM_207351.5(PRRT3):c.241G>A (p.Glu81Lys)	PRRT3, PRRT3-AS1 (E81K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538120	NM_207351.5(PRRT3):c.101T>C (p.Leu34Pro)	PRRT3, PRRT3-AS1 (L34P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523567	NM_207351.5(PRRT3):c.448C>T (p.Pro150Ser)	PRRT3, PRRT3-AS1 (P150S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511382	NM_207351.5(PRRT3):c.1058G>A (p.Arg353Gln)	PRRT3, PRRT3-AS1 (R353Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488538	NM_207351.5(PRRT3):c.1219C>A (p.Pro407Thr)	PRRT3, PRRT3-AS1 (P407T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472257	NM_207351.5(PRRT3):c.1331C>A (p.Ala444Asp)	PRRT3, PRRT3-AS1 (A444D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470837	NM_207351.5(PRRT3):c.991G>T (p.Ala331Ser)	PRRT3, PRRT3-AS1 (A331S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464089	NM_207351.5(PRRT3):c.1364C>T (p.Ala455Val)	PRRT3, PRRT3-AS1 (A455V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457576	NM_207351.5(PRRT3):c.937C>A (p.Pro313Thr)	PRRT3, PRRT3-AS1 (P313T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410962	NM_207351.5(PRRT3):c.226C>T (p.Arg76Cys)	PRRT3-AS1, PRRT3 (R76C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410293	NM_207351.5(PRRT3):c.1757T>C (p.Leu586Pro)	PRRT3, PRRT3-AS1 (L586P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393281	NM_207351.5(PRRT3):c.943G>A (p.Ala315Thr)	PRRT3-AS1, PRRT3 (A315T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389351	NM_207351.5(PRRT3):c.1106C>T (p.Pro369Leu)	PRRT3, PRRT3-AS1 (P369L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350898	NM_207351.5(PRRT3):c.1404C>G (p.Ser468Arg)	PRRT3, PRRT3-AS1 (S468R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344044	NM_207351.5(PRRT3):c.1301C>T (p.Pro434Leu)	PRRT3, PRRT3-AS1 (P434L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342109	NM_207351.5(PRRT3):c.1382G>T (p.Gly461Val)	PRRT3-AS1, PRRT3 (G461V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319983	NM_207351.5(PRRT3):c.1427A>G (p.Tyr476Cys)	PRRT3-AS1, PRRT3 (Y476C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285896	NM_207351.5(PRRT3):c.551G>A (p.Arg184Lys)	PRRT3-AS1, PRRT3 (R184K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267350	NM_207351.5(PRRT3):c.1249C>T (p.Arg417Trp)	PRRT3, PRRT3-AS1 (R417W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258580	NM_207351.5(PRRT3):c.1072G>A (p.Val358Met)	PRRT3, PRRT3-AS1 (V358M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234931	NM_207351.5(PRRT3):c.1190C>T (p.Pro397Leu)	PRRT3-AS1, PRRT3 (P397L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1703486	NM_207351.5(PRRT3):c.1180G>A (p.Glu394Lys)	PRRT3, PRRT3-AS1 (E394K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 24