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

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2308572	NM_016510.7(SCLY):c.-6G>T	LOC129935933, SCLY +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2387804	NM_016510.7(SCLY):c.32C>T (p.Ala11Val)	LOC129935933, SCLY +1 more (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158460	NM_016510.7(SCLY):c.34C>G (p.Pro12Ala)	LOC129935933, SCLY +1 more (P12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158454	NM_016510.7(SCLY):c.150G>T (p.Met50Ile)	SCLY, UBE2F-SCLY (M50I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158455	NM_016510.7(SCLY):c.191C>T (p.Pro64Leu)	SCLY, UBE2F-SCLY (P64L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2206509	NM_016510.7(SCLY):c.206G>T (p.Arg69Ile)	SCLY, UBE2F-SCLY (R69I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305409	NM_016510.7(SCLY):c.211G>A (p.Ala71Thr)	SCLY, UBE2F-SCLY (A71T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158456	NM_016510.7(SCLY):c.218A>G (p.Asp73Gly)	SCLY, UBE2F-SCLY (D73G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622936	NM_016510.7(SCLY):c.235C>T (p.Arg79Trp)	SCLY, UBE2F-SCLY (R79W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553451	NM_016510.7(SCLY):c.260G>T (p.Gly87Val)	SCLY, UBE2F-SCLY (G87V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158457	NM_016510.7(SCLY):c.292G>A (p.Gly98Arg)	SCLY, UBE2F-SCLY (G98R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158458	NM_016510.7(SCLY):c.299C>G (p.Thr100Ser)	SCLY, UBE2F-SCLY (T100S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2367063	NM_016510.7(SCLY):c.430G>C (p.Glu144Gln)	SCLY, UBE2F-SCLY (E144Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2608609	NM_016510.7(SCLY):c.499C>G (p.Pro167Ala)	SCLY, UBE2F-SCLY (P167A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459792	NM_016510.7(SCLY):c.500C>T (p.Pro167Leu)	SCLY, UBE2F-SCLY (P167L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2458344	NM_016510.7(SCLY):c.535G>A (p.Asp179Asn)	SCLY, UBE2F-SCLY (D179N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3316481	NM_016510.7(SCLY):c.553C>T (p.Arg185Cys)	SCLY, UBE2F-SCLY (R185C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355484	NM_016510.7(SCLY):c.583C>G (p.Leu195Val)	SCLY, UBE2F-SCLY (L195V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557971	NM_016510.7(SCLY):c.628A>C (p.Ser210Arg)	SCLY, UBE2F-SCLY (S210R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2545839	NM_016510.7(SCLY):c.635G>C (p.Arg212Pro)	SCLY, UBE2F-SCLY (R212P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282193	NM_016510.7(SCLY):c.661G>A (p.Val221Met)	SCLY, UBE2F-SCLY (V221M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2512161	NM_016510.7(SCLY):c.688G>A (p.Val230Met)	SCLY, UBE2F-SCLY (V230M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2273105	NM_016510.7(SCLY):c.724C>A (p.Arg242Ser)	SCLY, UBE2F-SCLY (R242S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2398163	NM_016510.7(SCLY):c.727G>A (p.Val243Met)	SCLY, UBE2F-SCLY (V243M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2214678	NM_016510.7(SCLY):c.868C>T (p.Arg290Trp)	SCLY, UBE2F-SCLY (R290W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158461	NM_016510.7(SCLY):c.899C>T (p.Pro300Leu)	SCLY, UBE2F-SCLY (P300L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2589543	NM_016510.7(SCLY):c.901A>G (p.Met301Val)	SCLY, UBE2F-SCLY (M301V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2464953	NM_016510.7(SCLY):c.925G>A (p.Ala309Thr)	SCLY, UBE2F-SCLY (A309T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557391	NM_016510.7(SCLY):c.926C>G (p.Ala309Gly)	SCLY, UBE2F-SCLY (A309G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158462	NM_016510.7(SCLY):c.946T>C (p.Cys316Arg)	SCLY, UBE2F-SCLY (C316R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158451	NM_016510.7(SCLY):c.979C>T (p.Arg327Cys)	SCLY, UBE2F-SCLY (R327C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2493640	NM_016510.7(SCLY):c.1055C>G (p.Thr352Ser)	SCLY, UBE2F-SCLY (T352S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2558481	NM_016510.7(SCLY):c.1078A>C (p.Asn360His)	SCLY, UBE2F-SCLY (N360H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2410615	NM_016510.7(SCLY):c.1090C>T (p.Arg364Trp)	SCLY, UBE2F-SCLY (R364W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217058	NM_016510.7(SCLY):c.1156G>T (p.Ala386Ser)	SCLY, UBE2F-SCLY (A386S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158452	NM_016510.7(SCLY):c.1169C>T (p.Ser390Leu)	SCLY, UBE2F-SCLY (S390L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3316482	NM_016510.7(SCLY):c.1177G>A (p.Gly393Arg)	SCLY, UBE2F-SCLY (G393R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2403980	NM_016510.7(SCLY):c.1187C>T (p.Pro396Leu)	LOC112840914, SCLY +1 more (P396L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2227156	NM_016510.7(SCLY):c.1208A>G (p.Tyr403Cys)	LOC112840914, SCLY +1 more (Y403C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2216012	NM_016510.7(SCLY):c.1229C>A (p.Ala410Asp)	LOC112840914, SCLY +1 more (A410D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2617402	NM_016510.7(SCLY):c.1276G>A (p.Glu426Lys)	LOC112840914, SCLY +1 more (E426K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158453	NM_016510.7(SCLY):c.1285C>T (p.Leu429Phe)	LOC112840914, SCLY +1 more (L429F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352823	NM_016510.7(SCLY):c.1316C>T (p.Ala439Val)	LOC112840914, SCLY +1 more (A439V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 43