6834[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 1248330	NC_000009.12:g.133351735=	SURF1	Single nucleotide variant	not provided	GBenign
Select item 1181008	NC_000009.12:g.133351736=	SURF1	Variation	not provided	GBenign
Select item 912544	NM_003172.4(SURF1):c.*118T>C	SURF1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GBenign
Select item 912545	NM_003172.4(SURF1):c.*93C>T	SURF1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 912546	NM_003172.4(SURF1):c.*47G>A	SURF1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2101311	NM_003172.4(SURF1):c.903A>T (p.Ter301Cys)	SURF1	Single nucleotide variant (stop lost)	Leigh syndrome	GUncertain significance
Select item 1954247	NM_003172.4(SURF1):c.903A>G (p.Ter301Trp)	SURF1	Single nucleotide variant (stop lost)	Leigh syndrome	GUncertain significance
Select item 2413128	NM_003172.4(SURF1):c.899_902del (p.Val300fs)	SURF1 (V191fs +1 more)	Microsatellite (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 506789	NM_003172.4(SURF1):c.900G>C (p.Val300=)	SURF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 985138	NM_003172.4(SURF1):c.898G>A (p.Val300Met)	SURF1 (V191M +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 1455541	NM_003172.4(SURF1):c.897T>C (p.Gly299=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 496204	NM_003172.4(SURF1):c.897del (p.Val300fs)	SURF1 (V300fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 526791	NM_003172.4(SURF1):c.893C>G (p.Pro298Arg)	SURF1 (P298R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2967817	NM_003172.4(SURF1):c.891A>G (p.Thr297=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 1988205	NM_003172.4(SURF1):c.891A>C (p.Thr297=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 215227	NM_003172.4(SURF1):c.889A>C (p.Thr297Pro)	SURF1 (T297P +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2067649	NM_003172.4(SURF1):c.884G>A (p.Arg295His)	SURF1 (R186H +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 1047269	NM_003172.4(SURF1):c.884G>T (p.Arg295Leu)	SURF1 (R186L +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 379683	NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)	SURF1 (R295C +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 2705373	NM_003172.4(SURF1):c.882A>T (p.Leu294=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 1117902	NM_003172.4(SURF1):c.882A>G (p.Leu294=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2413842	NM_003172.4(SURF1):c.879C>G (p.Phe293Leu)	SURF1 (F184L +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 456667	NM_003172.4(SURF1):c.879C>T (p.Phe293=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GLikely benign
Select item 520829	NM_003172.4(SURF1):c.870dup (p.Lys291Ter)	SURF1 (K182* +1 more)	Duplication (nonsense)	Leigh syndrome +2 more	GPathogenic
Select item 2726031	NM_003172.4(SURF1):c.870del (p.Phe290fs)	SURF1 (F290fs +1 more)	Deletion (frameshift variant)	Leigh syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1321366	NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)	SURF1 (W180* +1 more)	Single nucleotide variant (nonsense)	Leigh syndrome	GPathogenic
Select item 1415924	NM_003172.4(SURF1):c.865T>G (p.Trp289Gly)	SURF1 (W289G +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 3003393	NM_003172.4(SURF1):c.864G>T (p.Leu288=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2975781	NM_003172.4(SURF1):c.864G>A (p.Leu288=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 1418344	NM_003172.4(SURF1):c.863T>A (p.Leu288Gln)	SURF1 (L288Q +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 2179754	NM_003172.4(SURF1):c.862C>T (p.Leu288=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2152980	NM_003172.4(SURF1):c.861C>T (p.Tyr287=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2897944	NM_003172.4(SURF1):c.858C>T (p.Ser286=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2413124	NM_003172.4(SURF1):c.856T>C (p.Ser286Pro)	SURF1 (S177P +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 1060141	NM_003172.4(SURF1):c.856T>G (p.Ser286Ala)	SURF1 (S177A +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 761945	NM_003172.4(SURF1):c.855A>G (p.Thr285=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GLikely benign
Select item 2109748	NM_003172.4(SURF1):c.850G>C (p.Ala284Pro)	SURF1 (A284P +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 1033977	NM_003172.4(SURF1):c.850G>A (p.Ala284Thr)	SURF1 (A175T +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 2742967	NM_003172.4(SURF1):c.849A>T (p.Ala283=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 1410970	NM_003172.4(SURF1):c.847G>A (p.Ala283Thr)	SURF1 (A174T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2047265	NM_003172.4(SURF1):c.846T>C (p.Ser282=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 12770	NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	SURF1 (S282fs +1 more)	Microsatellite (frameshift variant)	Leigh syndrome due to mitochondrial complex IV deficiency +11 more	GPathogenic
Select item 2202363	NM_003172.4(SURF1):c.845C>G (p.Ser282Cys)	SURF1 (S282C +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 1320361	NM_003172.4(SURF1):c.842T>G (p.Leu281Arg)	SURF1 (L172R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703159	NM_003172.4(SURF1):c.838_839dup (p.Leu281fs)	SURF1 (L172fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic
Select item 1389234	NM_003172.4(SURF1):c.836A>T (p.Tyr279Phe)	SURF1 (Y279F +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 912547	NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys)	SURF1 (Y279C +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 928763	NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)	SURF1 (W169* +1 more)	Single nucleotide variant (nonsense)	Leigh syndrome	GPathogenic
Select item 2039897	NM_003172.4(SURF1):c.834-4dup	SURF1	Duplication (intron variant)	Leigh syndrome	GBenign
Select item 1668497	NM_003172.4(SURF1):c.834-4C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 559280	NM_003172.4(SURF1):c.834-5C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2823539	NM_003172.4(SURF1):c.834-6C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2755891	NM_003172.4(SURF1):c.834-13_834-9dup	SURF1	Duplication (intron variant)	Leigh syndrome	GLikely benign
Select item 2716638	NM_003172.4(SURF1):c.834-11T>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2107615	NM_003172.4(SURF1):c.834-11T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 380351	NM_003172.4(SURF1):c.834-13T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GBenign
Select item 2755074	NM_003172.4(SURF1):c.834-14C>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1945830	NM_003172.4(SURF1):c.834-15G>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2738856	NM_003172.4(SURF1):c.834-17T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1456077	NM_003172.4(SURF1):c.834-19G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1290854	NM_003172.4(SURF1):c.833+27C>T	SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2906643	NM_003172.4(SURF1):c.833+19T>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2129819	NM_003172.4(SURF1):c.833+19T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2918302	NM_003172.4(SURF1):c.833+18C>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2849462	NM_003172.4(SURF1):c.833+17C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2804556	NM_003172.4(SURF1):c.833+16C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2153613	NM_003172.4(SURF1):c.833+15G>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1659988	NM_003172.4(SURF1):c.833+15G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1649542	NM_003172.4(SURF1):c.833+14G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 388881	NM_003172.4(SURF1):c.833+13C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GLikely benign
Select item 2760416	NM_003172.4(SURF1):c.833+12G>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2196193	NM_003172.4(SURF1):c.833+11A>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1546838	NM_003172.4(SURF1):c.833+11A>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2117082	NM_003172.4(SURF1):c.833+10del	SURF1	Deletion (intron variant)	Leigh syndrome	GBenign
Select item 3020281	NM_003172.4(SURF1):c.833+7C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2581788	NM_003172.4(SURF1):c.823_833+7del	SURF1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 387629	NM_003172.4(SURF1):c.833+3G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1502070	NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC	SURF1	Insertion (splice donor variant)	Leigh syndrome	GLikely pathogenic
Select item 2413127	NM_003172.4(SURF1):c.833+1del	SURF1	Deletion (splice donor variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 1683295	NM_003172.4(SURF1):c.833+1G>C	SURF1	Single nucleotide variant (splice donor variant)	Leigh syndrome	GPathogenic/Likely pathogenic
Select item 599351	NM_003172.4(SURF1):c.833+1G>A	SURF1	Single nucleotide variant (splice donor variant)	Leigh syndrome +3 more	GPathogenic
Select item 2779129	NM_003172.4(SURF1):c.831C>T (p.Thr277=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2708338	NM_003172.4(SURF1):c.831C>G (p.Thr277=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign

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