"Ambry Genetics"[submitter] AND "UCKL1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2527940	NM_017859.4(UCKL1):c.1126G>A (p.Val376Ile)	UCKL1 (V168I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330775	NM_017859.4(UCKL1):c.1007T>C (p.Met336Thr)	UCKL1 (M128T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371617	NM_017859.4(UCKL1):c.866T>C (p.Ile289Thr)	UCKL1 (I171T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523533	NM_017859.4(UCKL1):c.736G>A (p.Gly246Ser)	UCKL1 (G128S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185949	NM_017859.4(UCKL1):c.721G>C (p.Asp241His)	UCKL1 (D226H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516452	NM_017859.4(UCKL1):c.691G>A (p.Asp231Asn)	UCKL1 (D231N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330776	NM_017859.4(UCKL1):c.574A>G (p.Lys192Glu)	UCKL1 (K176E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225591	NM_017859.4(UCKL1):c.569G>A (p.Arg190Gln)	UCKL1 (R175Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520576	NM_017859.4(UCKL1):c.487G>A (p.Asp163Asn)	UCKL1 (D147N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509323	NM_017859.4(UCKL1):c.458A>G (p.Asn153Ser)	UCKL1 (N152S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619714	NM_017859.4(UCKL1):c.421G>C (p.Glu141Gln)	UCKL1 (E141Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3185948	NM_017859.4(UCKL1):c.400T>C (p.Ser134Pro)	UCKL1 (S119P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2527570	NM_017859.4(UCKL1):c.344C>T (p.Ala115Val)	UCKL1 (A115V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245526	NM_017859.4(UCKL1):c.322G>A (p.Ala108Thr)	UCKL1 (A107T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330773	NM_017859.4(UCKL1):c.316G>A (p.Gly106Ser)	UCKL1 (G91S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309442	NM_017859.4(UCKL1):c.259T>G (p.Trp87Gly)	UCKL1 (W72G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569639	NM_017859.4(UCKL1):c.254C>T (p.Pro85Leu)	UCKL1 (P69L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406078	NM_017859.4(UCKL1):c.247G>A (p.Gly83Arg)	UCKL1 (G68R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185947	NM_017859.4(UCKL1):c.230G>A (p.Arg77His)	UCKL1 (R77H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330771	NM_017859.4(UCKL1):c.179G>A (p.Arg60Gln)	UCKL1 (R45Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368467	NM_017859.4(UCKL1):c.169C>T (p.Pro57Ser)	UCKL1 (P57S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591760	NM_017859.4(UCKL1):c.164G>A (p.Arg55His)	UCKL1 (R54H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3330772	NM_017859.4(UCKL1):c.163C>T (p.Arg55Cys)	UCKL1 (R55C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330774	NM_017859.4(UCKL1):c.155G>C (p.Gly52Ala)	UCKL1 (G37A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238898	NM_017859.4(UCKL1):c.100G>C (p.Ala34Pro)	LOC130066409, UCKL1 +1 more (A34P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2375174	NM_017859.4(UCKL1):c.44C>G (p.Thr15Arg)	LOC130066409, UCKL1 +1 more (T15R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2239148	NM_017859.4(UCKL1):c.7G>T (p.Ala3Ser)	LOC130066409, UCKL1 +1 more (A3S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

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Items: 27