"Ambry Genetics"[submitter] AND "PNN"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2463953	NM_002687.4(PNN):c.8T>C (p.Val3Ala)	LOC126861927, PNN +1 more (V3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216008	NM_002687.4(PNN):c.11C>T (p.Ala4Val)	LOC126861927, PNN +1 more (A4V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528643	NM_002687.4(PNN):c.331G>A (p.Ala111Thr)	PNN (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340098	NM_002687.4(PNN):c.373C>T (p.Arg125Cys)	PNN (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222113	NM_002687.4(PNN):c.748C>A (p.Pro250Thr)	PNN (P250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394745	NM_002687.4(PNN):c.766A>G (p.Ile256Val)	PNN (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308155	NM_002687.4(PNN):c.896G>A (p.Arg299His)	PNN (R299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385714	NM_002687.4(PNN):c.948G>T (p.Glu316Asp)	PNN (E316D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489230	NM_002687.4(PNN):c.1028C>T (p.Ala343Val)	PNN (A343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216006	NM_002687.4(PNN):c.1040G>T (p.Ser347Ile)	PNN (S347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308157	NM_002687.4(PNN):c.1055A>T (p.Glu352Val)	PNN (E352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216007	NM_002687.4(PNN):c.1102G>A (p.Glu368Lys)	PNN (E368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473577	NM_002687.4(PNN):c.1160T>C (p.Met387Thr)	PNN (M387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559192	NM_002687.4(PNN):c.1162G>A (p.Asp388Asn)	PNN (D388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526776	NM_002687.4(PNN):c.1261G>C (p.Ala421Pro)	PNN (A421P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394199	NM_002687.4(PNN):c.1262C>T (p.Ala421Val)	PNN (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348051	NM_002687.4(PNN):c.1360A>G (p.Met454Val)	PNN (M454V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454548	NM_002687.4(PNN):c.1383A>C (p.Lys461Asn)	PNN (K461N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216009	NM_002687.4(PNN):c.1421C>T (p.Ala474Val)	PNN (A474V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306865	NM_002687.4(PNN):c.1480C>G (p.Leu494Val)	PNN (L494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308156	NM_002687.4(PNN):c.1508A>G (p.Glu503Gly)	PNN (E503G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216010	NM_002687.4(PNN):c.1528T>G (p.Leu510Val)	PNN (L510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484688	NM_002687.4(PNN):c.1553A>G (p.Gln518Arg)	PNN (Q518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570523	NM_002687.4(PNN):c.1564C>T (p.His522Tyr)	PNN (H522Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241360	NM_002687.4(PNN):c.1585G>A (p.Asp529Asn)	PNN (D529N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219119	NM_002687.4(PNN):c.1592C>T (p.Pro531Leu)	PNN (P531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514651	NM_002687.4(PNN):c.1610T>C (p.Leu537Pro)	PNN (L537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216011	NM_002687.4(PNN):c.1763C>T (p.Thr588Ile)	PNN (T588I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246145	NM_002687.4(PNN):c.1813A>G (p.Ser605Gly)	PNN (S605G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216012	NM_002687.4(PNN):c.1874C>T (p.Thr625Ile)	PNN (T625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216013	NM_002687.4(PNN):c.1888G>A (p.Glu630Lys)	PNN (E630K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216014	NM_002687.4(PNN):c.1955G>A (p.Arg652Gln)	PNN (R652Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485538	NM_002687.4(PNN):c.2009G>T (p.Gly670Val)	PNN (G670V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485539	NM_002687.4(PNN):c.2030G>A (p.Gly677Glu)	PNN (G677E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383597	NM_002687.4(PNN):c.2056G>A (p.Asp686Asn)	PNN (D686N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216015	NM_002687.4(PNN):c.2073A>G (p.Ile691Met)	PNN (I691M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540348	NM_002687.4(PNN):c.2079G>C (p.Glu693Asp)	PNN (E693D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393408	NM_002687.4(PNN):c.2087G>A (p.Arg696Gln)	PNN (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308154	NM_002687.4(PNN):c.2095A>C (p.Lys699Gln)	PNN (K699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327049	NM_002687.4(PNN):c.2096A>C (p.Lys699Thr)	PNN (K699T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284750	NM_002687.4(PNN):c.2135G>A (p.Arg712Lys)	PNN (R712K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41