ClinVar for Gene (Select 57147) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158851	NM_020423.7(SCYL3):c.527C>G (p.Pro176Arg)	SCYL3 (P176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158850	NM_020423.7(SCYL3):c.373G>A (p.Val125Ile)	SCYL3 (V125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158849	NM_020423.7(SCYL3):c.1968G>C (p.Met656Ile)	SCYL3 (M710I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158848	NM_020423.7(SCYL3):c.1910T>C (p.Ile637Thr)	SCYL3 (I691T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158847	NM_020423.7(SCYL3):c.1805G>A (p.Gly602Glu)	SCYL3 (G602E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158846	NM_020423.7(SCYL3):c.1723G>A (p.Gly575Arg)	SCYL3 (G629R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158845	NM_020423.7(SCYL3):c.1627G>A (p.Gly543Arg)	SCYL3 (G597R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158843	NM_020423.7(SCYL3):c.1484C>T (p.Pro495Leu)	SCYL3 (P549L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158842	NM_020423.7(SCYL3):c.1400C>T (p.Ser467Leu)	SCYL3 (S521L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158841	NM_020423.7(SCYL3):c.1361A>G (p.Asp454Gly)	SCYL3 (D454G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158840	NM_020423.7(SCYL3):c.1313-904T>C	SCYL3 (F468L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158839	NM_020423.7(SCYL3):c.1313-983G>A	SCYL3 (M441I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158838	NM_020423.7(SCYL3):c.131G>A (p.Arg44Lys)	SCYL3 (R44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2639544	NM_020423.7(SCYL3):c.456C>A (p.Ala152=)	SCYL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639543	NM_020423.7(SCYL3):c.1047T>C (p.His349=)	SCYL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639542	NM_001320047.2(FIRRM):c.2249G>A (p.Gly750Glu)	FIRRM, SCYL3 (G427E +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2611776	NM_020423.7(SCYL3):c.157G>A (p.Ala53Thr)	SCYL3 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593367	NM_020423.7(SCYL3):c.1313-984T>C	SCYL3 (M441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527908	NM_020423.7(SCYL3):c.622C>G (p.Gln208Glu)	SCYL3 (Q208E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486345	NM_020423.7(SCYL3):c.1587C>G (p.Asn529Lys)	SCYL3 (N529K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468939	NM_020423.7(SCYL3):c.1313-939A>T	SCYL3 (E456V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465064	NM_020423.7(SCYL3):c.526C>T (p.Pro176Ser)	SCYL3 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412232	NM_020423.7(SCYL3):c.1782G>C (p.Lys594Asn)	SCYL3 (K648N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396637	NM_020423.7(SCYL3):c.520A>T (p.Met174Leu)	SCYL3 (M174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391662	NM_020423.7(SCYL3):c.1807G>A (p.Glu603Lys)	SCYL3 (E657K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371225	NM_020423.7(SCYL3):c.1313-836G>C	SCYL3 (Q490H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364318	NM_020423.7(SCYL3):c.1576A>G (p.Thr526Ala)	SCYL3 (T526A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334331	NM_020423.7(SCYL3):c.76G>A (p.Val26Ile)	SCYL3 (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313010	NM_020423.7(SCYL3):c.24A>C (p.Leu8Phe)	SCYL3 (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307350	NM_020423.7(SCYL3):c.1670A>C (p.Glu557Ala)	SCYL3 (E557A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305522	NM_020423.7(SCYL3):c.1918G>A (p.Glu640Lys)	SCYL3 (E640K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291822	NM_020423.7(SCYL3):c.200G>A (p.Arg67Lys)	SCYL3 (R67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284964	NM_020423.7(SCYL3):c.965A>T (p.Gln322Leu)	SCYL3 (Q322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264788	NM_020423.7(SCYL3):c.1984T>C (p.Phe662Leu)	SCYL3 (F716L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250338	NM_020423.7(SCYL3):c.1726G>T (p.Asp576Tyr)	SCYL3 (D630Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249721	NM_020423.7(SCYL3):c.1313-919T>G	SCYL3 (F463V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243953	NM_020423.7(SCYL3):c.1711C>T (p.Leu571Phe)	SCYL3 (L625F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243424	NM_020423.7(SCYL3):c.1313-894G>A	SCYL3 (S471N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236007	NM_020423.7(SCYL3):c.704C>T (p.Ala235Val)	SCYL3 (A235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1457087	NC_000001.10:g.(?_169660781)_(170521603_?)del	FIRRM, GORAB +6 more	Deletion	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 711777	NM_001320047.2(FIRRM):c.2342A>C (p.Glu781Ala)	FIRRM, SCYL3 (E458A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61