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	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +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	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +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 3339531	NM_003172.4(SURF1):c.893C>T (p.Pro298Leu)	SURF1 (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 526791	NM_003172.4(SURF1):c.893C>G (p.Pro298Arg)	SURF1 (P298R +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +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 +1 more	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)	not specified +2 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 +1 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	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)	not provided +10 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 3451425	NM_003172.4(SURF1):c.841C>G (p.Leu281Val)	SURF1 (L281V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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