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

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2377208	NM_145053.5(UBQLNL):c.1364A>T (p.Gln455Leu)	UBQLNL (Q455L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185734	NM_145053.5(UBQLNL):c.1347G>A (p.Met449Ile)	UBQLNL (M449I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185733	NM_145053.5(UBQLNL):c.1343G>T (p.Ser448Ile)	UBQLNL (S448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262314	NM_145053.5(UBQLNL):c.1169A>C (p.Gln390Pro)	UBQLNL (Q545P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512623	NM_145053.5(UBQLNL):c.1151C>T (p.Pro384Leu)	UBQLNL (P384L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518306	NM_145053.5(UBQLNL):c.1145C>G (p.Ala382Gly)	UBQLNL (A537G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551215	NM_145053.5(UBQLNL):c.1009G>C (p.Gly337Arg)	UBQLNL (G337R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185742	NM_145053.5(UBQLNL):c.961G>T (p.Asp321Tyr)	UBQLNL (D321Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185741	NM_145053.5(UBQLNL):c.931C>A (p.Pro311Thr)	UBQLNL (P466T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375234	NM_145053.5(UBQLNL):c.882C>A (p.Phe294Leu)	UBQLNL (F294L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411374	NM_145053.5(UBQLNL):c.876C>A (p.Asn292Lys)	UBQLNL (N447K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219901	NM_145053.5(UBQLNL):c.821A>G (p.Tyr274Cys)	UBQLNL (Y274C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400346	NM_145053.5(UBQLNL):c.766C>T (p.Pro256Ser)	UBQLNL (P256S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185740	NM_145053.5(UBQLNL):c.764A>C (p.Gln255Pro)	UBQLNL (Q410P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185739	NM_145053.5(UBQLNL):c.649G>T (p.Asp217Tyr)	UBQLNL (D372Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553638	NM_145053.5(UBQLNL):c.587C>T (p.Ser196Leu)	UBQLNL (S351L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486183	NM_145053.5(UBQLNL):c.574T>C (p.Trp192Arg)	UBQLNL (W192R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342235	NM_145053.5(UBQLNL):c.572T>C (p.Met191Thr)	UBQLNL (M346T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185738	NM_145053.5(UBQLNL):c.554T>C (p.Leu185Pro)	UBQLNL (L185P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185737	NM_145053.5(UBQLNL):c.547C>T (p.Arg183Trp)	UBQLNL (R183W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562185	NM_145053.5(UBQLNL):c.371G>A (p.Arg124Gln)	UBQLNL (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461967	NM_145053.5(UBQLNL):c.340C>T (p.Arg114Trp)	UBQLNL (R114W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349330	NM_145053.5(UBQLNL):c.243C>A (p.Asp81Glu)	UBQLNL (D236E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265758	NM_145053.5(UBQLNL):c.206A>G (p.Gln69Arg)	UBQLNL (Q69R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299854	NM_145053.5(UBQLNL):c.197A>G (p.Gln66Arg)	UBQLNL (Q66R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361840	NM_145053.5(UBQLNL):c.154G>A (p.Val52Ile)	UBQLNL (V52I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346624	NM_145053.5(UBQLNL):c.152C>T (p.Ser51Leu)	UBQLNL (S51L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243611	NM_145053.5(UBQLNL):c.150C>G (p.Ile50Met)	UBQLNL (I205M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185736	NM_145053.5(UBQLNL):c.23C>T (p.Thr8Ile)	UBQLNL (T8I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185735	NM_145053.5(UBQLNL):c.20G>A (p.Arg7Gln)	UBQLNL (R162Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30