"Ambry Genetics"[submitter] AND "PTPN4"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2236127	NM_002830.4(PTPN4):c.95A>C (p.Asn32Thr)	PTPN4 (N32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205365	NM_002830.4(PTPN4):c.115A>G (p.Thr39Ala)	PTPN4 (T39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307186	NM_002830.4(PTPN4):c.137A>G (p.Asn46Ser)	PTPN4 (N46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321409	NM_002830.4(PTPN4):c.141A>T (p.Lys47Asn)	PTPN4 (K47N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299635	NM_002830.4(PTPN4):c.312C>A (p.Asn104Lys)	PTPN4 (N104K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210441	NM_002830.4(PTPN4):c.745C>T (p.Arg249Ter)	PTPN4 (R249*)	Single nucleotide variant (nonsense)	PTPN4-Related Disorders +1 more	GPathogenic
Select item 2250716	NM_002830.4(PTPN4):c.748A>C (p.Met250Leu)	PTPN4 (M250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613101	NM_002830.4(PTPN4):c.752A>G (p.Asn251Ser)	PTPN4 (N251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556405	NM_002830.4(PTPN4):c.863T>C (p.Met288Thr)	PTPN4 (M288T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360584	NM_002830.4(PTPN4):c.926G>A (p.Arg309His)	PTPN4 (R309H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477462	NM_002830.4(PTPN4):c.1060G>A (p.Val354Ile)	PTPN4 (V354I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369972	NM_002830.4(PTPN4):c.1142A>G (p.Asp381Gly)	PTPN4 (D381G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605222	NM_002830.4(PTPN4):c.1172G>A (p.Arg391Gln)	PTPN4 (R391Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400147	NM_002830.4(PTPN4):c.1327G>A (p.Ala443Thr)	PTPN4 (A443T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2525335	NM_002830.4(PTPN4):c.1472T>A (p.Ile491Asn)	PTPN4 (I491N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541495	NM_002830.4(PTPN4):c.1496C>T (p.Ser499Phe)	PTPN4 (S499F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555282	NM_002830.4(PTPN4):c.1513A>G (p.Thr505Ala)	PTPN4 (T505A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233959	NM_002830.4(PTPN4):c.1535A>T (p.His512Leu)	PTPN4 (H512L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509612	NM_002830.4(PTPN4):c.1539T>G (p.Asp513Glu)	PTPN4 (D513E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511538	NM_002830.4(PTPN4):c.1694A>G (p.Gln565Arg)	PTPN4 (Q565R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494779	NM_002830.4(PTPN4):c.1822G>A (p.Asp608Asn)	PTPN4 (D608N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350686	NM_002830.4(PTPN4):c.1919G>A (p.Arg640Gln)	PTPN4 (R640Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257736	NM_002830.4(PTPN4):c.1927A>T (p.Met643Leu)	PTPN4 (M643L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388225	NM_002830.4(PTPN4):c.1939G>A (p.Ala647Thr)	PTPN4 (A647T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229842	NM_002830.4(PTPN4):c.2066C>T (p.Ser689Leu)	PTPN4 (S689L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337466	NM_002830.4(PTPN4):c.2244G>A (p.Met748Ile)	PTPN4 (M748I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528294	NM_002830.4(PTPN4):c.2311A>G (p.Thr771Ala)	PTPN4 (T771A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378697	NM_002830.4(PTPN4):c.2387A>G (p.Lys796Arg)	PTPN4 (K796R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2495472	NM_002830.4(PTPN4):c.2431A>G (p.Thr811Ala)	PTPN4 (T811A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273298	NM_002830.4(PTPN4):c.2507A>G (p.His836Arg)	PTPN4 (H836R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30