6341[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 891558	NM_004589.4(SCO1):c.*731A>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321780	NM_004589.4(SCO1):c.*722C>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign
Select item 321781	NM_004589.4(SCO1):c.*601del	SCO1	Deletion (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321782	NM_004589.4(SCO1):c.*594A>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 891822	NM_004589.4(SCO1):c.*526T>C	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321783	NM_004589.4(SCO1):c.*403A>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321784	NM_004589.4(SCO1):c.*349C>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 889379	NM_004589.4(SCO1):c.*326C>T	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321785	NM_004589.4(SCO1):c.*320=	SCO1	Single nucleotide variant (no sequence alteration)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign
Select item 321786	NM_004589.4(SCO1):c.*310C>T	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 321787	NM_004589.4(SCO1):c.*285C>T	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321788	NM_004589.4(SCO1):c.*272T>C	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 890068	NM_004589.4(SCO1):c.*270T>A	SCO1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome	GLikely benign
Select item 321789	NM_004589.4(SCO1):c.*127A>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 890644	NM_004589.4(SCO1):c.*81A>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 890645	NM_004589.4(SCO1):c.*80A>G	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 321790	NM_004589.4(SCO1):c.*61A>C	SCO1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 380438	NM_004589.4(SCO1):c.*18G>A	SCO1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 811095	NM_004589.4(SCO1):c.881T>A (p.Met294Lys)	SCO1 (M294K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 321791	NM_004589.4(SCO1):c.868A>G (p.Ile290Val)	SCO1 (I290V)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2430904	NM_004589.4(SCO1):c.850G>A (p.Gly284Arg)	SCO1 (G284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2244554	NM_004589.4(SCO1):c.848A>G (p.Lys283Arg)	SCO1 (K283R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316662	NM_004589.4(SCO1):c.840C>G (p.Asn280Lys)	SCO1 (N280K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2716117	NM_004589.4(SCO1):c.835C>T (p.Gln279Ter)	SCO1 (Q279*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2556511	NM_004589.4(SCO1):c.824A>G (p.Asp275Gly)	SCO1 (D275G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545273	NM_004589.4(SCO1):c.806C>T (p.Pro269Leu)	SCO1 (P269L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026325	NM_004589.4(SCO1):c.804A>G (p.Gly268=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891883	NM_004589.4(SCO1):c.798G>C (p.Leu266Phe)	SCO1 (L266F)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 215123	NM_004589.4(SCO1):c.787A>G (p.Ile263Val)	SCO1 (I263V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +3 more	GUncertain significance
Select item 1967608	NM_004589.4(SCO1):c.772-5T>C	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750429	NM_004589.4(SCO1):c.772-6C>T	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998804	NM_004589.4(SCO1):c.772-13dup	SCO1	Duplication (intron variant)	not provided	GBenign
Select item 1297415	NM_004589.4(SCO1):c.772-150G>A	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208821	NM_004589.4(SCO1):c.771+319G>A	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265106	NM_004589.4(SCO1):c.771+144_771+145del	SCO1	Deletion (intron variant)	not provided	GBenign
Select item 1237072	NM_004589.4(SCO1):c.771+145del	SCO1	Deletion (intron variant)	not provided	GBenign
Select item 1240647	NM_004589.4(SCO1):c.771+105A>G	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 891884	NM_004589.4(SCO1):c.771+3G>C	SCO1	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 441079	NM_004589.4(SCO1):c.769A>C (p.Ile257Leu)	SCO1 (I257L)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	Gnot provided
Select item 1380909	NM_004589.4(SCO1):c.763_765del (p.Asp255del)	SCO1 (D255del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1518766	NM_004589.4(SCO1):c.762A>T (p.Glu254Asp)	SCO1 (E254D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510860	NM_004589.4(SCO1):c.758A>G (p.Asp253Gly)	SCO1 (D253G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215117	NM_004589.4(SCO1):c.753C>T (p.Asp251=)	SCO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1947587	NM_004589.4(SCO1):c.750G>A (p.Lys250=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3158628	NM_004589.4(SCO1):c.748A>G (p.Lys250Glu)	SCO1 (K250E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710593	NM_004589.4(SCO1):c.745C>T (p.Pro249Ser)	SCO1 (P249S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741449	NM_004589.4(SCO1):c.744C>T (p.Gly248=)	SCO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +1 more	GLikely benign
Select item 2081810	NM_004589.4(SCO1):c.740C>T (p.Pro247Leu)	SCO1 (P247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2063232	NM_004589.4(SCO1):c.729G>A (p.Val243=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891885	NM_004589.4(SCO1):c.724A>C (p.Arg242=)	SCO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2441896	NM_004589.4(SCO1):c.722A>G (p.Tyr241Cys)	SCO1 (Y241C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1348191	NM_004589.4(SCO1):c.703G>A (p.Asp235Asn)	SCO1 (D235N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390411	NM_004589.4(SCO1):c.702C>T (p.Val234=)	SCO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2990421	NM_004589.4(SCO1):c.690G>T (p.Thr230=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 321792	NM_004589.4(SCO1):c.689C>T (p.Thr230Met)	SCO1 (T230M)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 321793	NM_004589.4(SCO1):c.673G>A (p.Val225Ile)	SCO1 (V225I)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 383039	NM_004589.4(SCO1):c.672G>A (p.Leu224=)	SCO1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1945540	NM_004589.4(SCO1):c.670C>G (p.Leu224Val)	SCO1 (L224V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3044187	NM_004589.4(SCO1):c.656-7dup	SCO1	Duplication (intron variant)	SCO1-related disorder	GLikely benign
Select item 1631502	NM_004589.4(SCO1):c.656-20C>G	SCO1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +1 more	GLikely benign
Select item 1185763	NM_004589.4(SCO1):c.656-223C>T	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225409	NM_004589.4(SCO1):c.656-284C>T	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175605	NM_004589.4(SCO1):c.656-304G>C	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683702	NM_004589.4(SCO1):c.655+165G>A	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291424	NM_004589.4(SCO1):c.655+132G>A	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207458	NM_004589.4(SCO1):c.655+37T>G	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980424	NM_004589.4(SCO1):c.655+16A>G	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989640	NM_004589.4(SCO1):c.655+13del	SCO1	Deletion (intron variant)	not provided	GLikely benign
Select item 1610034	NM_004589.4(SCO1):c.655+11A>T	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3026636	NM_004589.4(SCO1):c.654A>G (p.Lys218=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2502073	NM_004589.4(SCO1):c.649G>T (p.Val217Leu)	SCO1 (V217L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906228	NM_004589.4(SCO1):c.648T>C (p.Tyr216=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 321794	NM_004589.4(SCO1):c.640G>A (p.Ala214Thr)	SCO1 (A214T)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 1954028	NM_004589.4(SCO1):c.637A>G (p.Ile213Val)	SCO1 (I213V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028271	NM_004589.4(SCO1):c.628A>C (p.Lys210Gln)	SCO1 (K210Q)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 388662	NM_004589.4(SCO1):c.620G>A (p.Arg207Lys)	SCO1 (R207K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3316661	NM_004589.4(SCO1):c.616G>A (p.Glu206Lys)	SCO1 (E206K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2907495	NM_004589.4(SCO1):c.612C>T (p.Asp204=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 139079	NM_004589.4(SCO1):c.594A>G (p.Pro198=)	SCO1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 731415	NM_004589.4(SCO1):c.579G>T (p.Leu193=)	SCO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1356538	NM_004589.4(SCO1):c.574A>G (p.Thr192Ala)	SCO1 (T192A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777829	NM_004589.4(SCO1):c.573A>G (p.Thr191=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441998	NM_004589.4(SCO1):c.563-11CT[2]	SCO1	Microsatellite (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 4	GUncertain significance
Select item 1292072	NM_004589.4(SCO1):c.563-107T>C	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297414	NM_004589.4(SCO1):c.563-110C>T	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183634	NM_004589.4(SCO1):c.563-117C>T	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292291	NM_004589.4(SCO1):c.563-141C>T	SCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180223	NM_004589.4(SCO1):c.562+126G>A	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734960	NM_004589.4(SCO1):c.562+9G>A	SCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2435779	NM_004589.4(SCO1):c.555del (p.Asp185fs)	SCO1 (D185fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 4	GUncertain significance
Select item 280792	NM_004589.4(SCO1):c.551del (p.Val184fs)	SCO1 (V184fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1985108	NM_004589.4(SCO1):c.550G>A (p.Val184Met)	SCO1 (V184M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978724	NM_004589.4(SCO1):c.549C>T (p.Val183=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737448	NM_004589.4(SCO1):c.531A>G (p.Leu177=)	SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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