"Ambry Genetics"[submitter] AND "LOC126862614"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2464930	NM_017647.4(FTSJ3):c.2510G>A (p.Arg837His)	FTSJ3, LOC126862614 (R837H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280151	NM_017647.4(FTSJ3):c.2495A>G (p.Gln832Arg)	FTSJ3, LOC126862614 (Q832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097406	NM_017647.4(FTSJ3):c.2456G>A (p.Gly819Asp)	FTSJ3, LOC126862614 (G819D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097405	NM_017647.4(FTSJ3):c.2435G>A (p.Arg812His)	FTSJ3, LOC126862614 (R812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330538	NM_017647.4(FTSJ3):c.2434C>T (p.Arg812Cys)	FTSJ3, LOC126862614 (R812C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097404	NM_017647.4(FTSJ3):c.2425C>T (p.Arg809Cys)	FTSJ3, LOC126862614 (R809C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530001	NM_017647.4(FTSJ3):c.2417G>A (p.Gly806Asp)	FTSJ3, LOC126862614 (G806D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531442	NM_017647.4(FTSJ3):c.2408C>T (p.Ala803Val)	FTSJ3, LOC126862614 (A803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296857	NM_017647.4(FTSJ3):c.2363A>C (p.Lys788Thr)	FTSJ3, LOC126862614 (K788T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296856	NM_017647.4(FTSJ3):c.2362A>G (p.Lys788Glu)	FTSJ3, LOC126862614 (K788E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342618	NM_017647.4(FTSJ3):c.2331G>T (p.Glu777Asp)	FTSJ3, LOC126862614 (E777D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264055	NM_017647.4(FTSJ3):c.2327G>A (p.Arg776Gln)	FTSJ3, LOC126862614 (R776Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280148	NM_017647.4(FTSJ3):c.2299G>A (p.Val767Met)	FTSJ3, LOC126862614 (V767M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097402	NM_017647.4(FTSJ3):c.2210G>A (p.Arg737His)	FTSJ3, LOC126862614 (R737H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396396	NM_017647.4(FTSJ3):c.2194C>T (p.Arg732Trp)	FTSJ3, LOC126862614 (R732W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280145	NM_017647.4(FTSJ3):c.2144G>A (p.Arg715Gln)	FTSJ3, LOC126862614 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280141	NM_017647.4(FTSJ3):c.2138G>A (p.Arg713Gln)	FTSJ3, LOC126862614 (R713Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614610	NM_017647.4(FTSJ3):c.2096G>A (p.Gly699Glu)	FTSJ3, LOC126862614 (G699E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256645	NM_017647.4(FTSJ3):c.2093A>G (p.Glu698Gly)	FTSJ3, LOC126862614 (E698G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570155	NM_017647.4(FTSJ3):c.1999G>A (p.Gly667Ser)	FTSJ3, LOC126862614 (G667S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321489	NM_017647.4(FTSJ3):c.1988T>G (p.Leu663Arg)	FTSJ3, LOC126862614 (L663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465754	NM_017647.4(FTSJ3):c.1982G>A (p.Arg661Gln)	FTSJ3, LOC126862614 (R661Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097401	NM_017647.4(FTSJ3):c.1973C>T (p.Ala658Val)	FTSJ3, LOC126862614 (A658V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 23