"Ambry Genetics"[submitter] AND "NPAS4"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2254695	NM_178864.4(NPAS4):c.202C>T (p.Leu68Phe)	NPAS4 (L68F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241706	NM_178864.4(NPAS4):c.211G>T (p.Ala71Ser)	NPAS4 (A71S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234859	NM_178864.4(NPAS4):c.319C>A (p.His107Asn)	NPAS4 (H107N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2622112	NM_178864.4(NPAS4):c.361G>A (p.Asp121Asn)	NPAS4 (D121N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280073	NM_178864.4(NPAS4):c.406A>G (p.Thr136Ala)	NPAS4 (T136A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356718	NM_178864.4(NPAS4):c.605G>T (p.Gly202Val)	NPAS4 (V29F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535127	NM_178864.4(NPAS4):c.784G>A (p.Ala262Thr)	NPAS4 (A262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298645	NM_178864.4(NPAS4):c.949A>G (p.Met317Val)	NPAS4 (M107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285752	NM_178864.4(NPAS4):c.950T>A (p.Met317Lys)	NPAS4 (M107K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606754	NM_178864.4(NPAS4):c.961A>G (p.Ser321Gly)	NPAS4 (S321G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543420	NM_178864.4(NPAS4):c.1064A>G (p.Glu355Gly)	NPAS4 (E355G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221651	NM_178864.4(NPAS4):c.1082C>A (p.Pro361Gln)	NPAS4 (P361Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267071	NM_178864.4(NPAS4):c.1232C>A (p.Ser411Tyr)	NPAS4 (S201Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201538	NM_178864.4(NPAS4):c.1333C>T (p.Gln445Ter)	NPAS4 (Q445* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2615381	NM_178864.4(NPAS4):c.1390G>A (p.Ala464Thr)	NPAS4 (A254T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397118	NM_178864.4(NPAS4):c.1427C>T (p.Thr476Ile)	NPAS4 (T266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401173	NM_178864.4(NPAS4):c.1472A>G (p.Glu491Gly)	NPAS4 (E491G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412437	NM_178864.4(NPAS4):c.1484G>C (p.Arg495Thr)	NPAS4 (R495T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300709	NM_178864.4(NPAS4):c.1486A>G (p.Ser496Gly)	NPAS4 (S286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525220	NM_178864.4(NPAS4):c.1497C>A (p.Asp499Glu)	NPAS4 (D289E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590622	NM_178864.4(NPAS4):c.1508C>T (p.Pro503Leu)	NPAS4 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201539	NM_178864.4(NPAS4):c.1565C>T (p.Pro522Leu)	NPAS4 (P312L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613132	NM_178864.4(NPAS4):c.1661G>A (p.Ser554Asn)	NPAS4 (S344N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201540	NM_178864.4(NPAS4):c.1687G>T (p.Ala563Ser)	NPAS4 (A563S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201541	NM_178864.4(NPAS4):c.1899C>A (p.Asp633Glu)	NPAS4 (D423E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263449	NM_178864.4(NPAS4):c.1926G>T (p.Leu642Phe)	NPAS4 (L642F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285751	NM_178864.4(NPAS4):c.1937T>C (p.Met646Thr)	NPAS4 (M436T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333873	NM_178864.4(NPAS4):c.1944A>C (p.Arg648Ser)	NPAS4 (R438S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201542	NM_178864.4(NPAS4):c.2026G>T (p.Gly676Trp)	NPAS4 (G466W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201543	NM_178864.4(NPAS4):c.2063C>T (p.Pro688Leu)	NPAS4 (P688L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609675	NM_178864.4(NPAS4):c.2107A>G (p.Met703Val)	NPAS4 (M493V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512836	NM_178864.4(NPAS4):c.2116G>A (p.Glu706Lys)	NPAS4 (E496K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201544	NM_178864.4(NPAS4):c.2149C>A (p.Leu717Ile)	NPAS4 (L507I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306955	NM_178864.4(NPAS4):c.2191C>T (p.Pro731Ser)	NPAS4 (P731S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201545	NM_178864.4(NPAS4):c.2200G>A (p.Glu734Lys)	NPAS4 (E524K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350823	NM_178864.4(NPAS4):c.2222C>T (p.Ser741Leu)	NPAS4 (S741L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36