"GeneDx"[submitter] AND "SURF1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 506789	NM_003172.4(SURF1):c.900G>C (p.Val300=)	SURF1	Single nucleotide variant (synonymous variant)	not specified +1 more	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 379683	NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)	SURF1 (R295C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 456667	NM_003172.4(SURF1):c.879C>T (p.Phe293=)	SURF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1410970	NM_003172.4(SURF1):c.847G>A (p.Ala283Thr)	SURF1 (A174T +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 12770	NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	SURF1 (S282fs +1 more)	Microsatellite (frameshift variant)	SURF1-related condition +11 more	GPathogenic
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 380351	NM_003172.4(SURF1):c.834-13T>C	SURF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290854	NM_003172.4(SURF1):c.833+27C>T	SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 419972	NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup)	SURF1	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease type 4K +2 more	GLikely pathogenic
Select item 215239	NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)	SURF1	Duplication (inframe_insertion)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1584475	NM_003172.4(SURF1):c.807C>T (p.Asn269=)	SURF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 524066	NM_003172.4(SURF1):c.796dup (p.Thr266fs)	SURF1 (T157fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 215238	NM_003172.4(SURF1):c.792_793del (p.Arg264fs)	SURF1 (R155fs +1 more)	Microsatellite (frameshift variant)	Leigh syndrome +4 more	GPathogenic
Select item 430311	NM_003172.4(SURF1):c.771_773delinsG (p.Pro258fs)	SURF1 (P258fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 372717	NM_003172.4(SURF1):c.758_759del (p.Thr253fs)	SURF1 (T253fs +1 more)	Microsatellite (frameshift variant)	Leigh syndrome +3 more	GPathogenic
Select item 1236566	NM_003172.4(SURF1):c.752-65A>T	SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 139376	NM_003172.4(SURF1):c.751+6T>C	SURF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 373217	NM_003172.4(SURF1):c.751+5G>A	SURF1	Single nucleotide variant (intron variant)	Cerebellar ataxia +6 more	GConflicting classifications of pathogenicity
Select item 489355	NM_003172.4(SURF1):c.751+4C>T	SURF1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 12762	NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)	SURF1 (Q251* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 215226	NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)	SURF1 (N249D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280010	NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)	SURF1 (R230* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2506599	NM_003172.4(SURF1):c.684T>A (p.His228Gln)	SURF1 (H119Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379686	NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)	SURF1 (W227* +1 more)	Single nucleotide variant (nonsense)	Leigh syndrome +1 more	GPathogenic
Select item 388763	NM_003172.4(SURF1):c.657G>A (p.Glu219=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GLikely benign
Select item 139375	NM_003172.4(SURF1):c.604G>C (p.Asp202His)	SURF1 (D202H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1317414	NM_003172.4(SURF1):c.590T>C (p.Ile197Thr)	SURF1 (I197T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215236	NM_003172.4(SURF1):c.589-1G>T	SURF1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 243077	NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)	SURF1 (Q196* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 419973	NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)	SURF1 (R192fs +1 more)	Insertion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 215235	NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	SURF1 (R192W +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GPathogenic/Likely pathogenic
Select item 139374	NM_003172.4(SURF1):c.573C>G (p.Thr191=)	SURF1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4K +3 more	GBenign/Likely benign
Select item 215234	NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)	SURF1 (N188S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 847821	NM_003172.4(SURF1):c.555_556del (p.Lys186fs)	SURF1 (K186fs +1 more)	Deletion (frameshift variant)	Leigh syndrome +1 more	GPathogenic
Select item 215225	NM_003172.4(SURF1):c.543C>T (p.Phe181=)	SURF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 432819	NM_003172.4(SURF1):c.534_535del (p.Asn178fs)	SURF1 (N178fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372719	NM_003172.4(SURF1):c.532_535del (p.Asn178fs)	SURF1 (N69fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4K +2 more	GPathogenic
Select item 633010	NM_003172.4(SURF1):c.516-2A>G	SURF1	Single nucleotide variant (splice acceptor variant)	not specified +2 more	GPathogenic
Select item 390079	NM_003172.4(SURF1):c.516-8T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GLikely benign
Select item 1220015	NM_003172.4(SURF1):c.516-11C>T	SURF1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1205257	NM_003172.4(SURF1):c.516-140G>A	SURF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214538	NM_003172.4(SURF1):c.516-166G>C	SURF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200426	NM_003172.4(SURF1):c.516-213G>C	SURF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185724	NM_003172.4(SURF1):c.516-279C>A	SURF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274769	NM_003172.4(SURF1):c.515+276C>T	SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236090	NM_003172.4(SURF1):c.515+213A>G	SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212319	NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)	SURF1 (T164I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 390428	NM_003172.4(SURF1):c.447C>T (p.Gly149=)	SURF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 215233	NM_003172.4(SURF1):c.409C>T (p.Arg137Trp)	SURF1 (R137W +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 215243	NM_003172.4(SURF1):c.380_382delinsCCT (p.Asp127_His128delinsAlaTyr)	SURF1	Indel (missense variant)	not provided	GLikely pathogenic
Select item 1182215	NM_003172.4(SURF1):c.367_368del (p.Arg123fs)	SURF1 (R123fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 215232	NM_003172.4(SURF1):c.324-11T>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1211752	NM_003172.4(SURF1):c.324-339A>C	SURF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673799	NM_003172.4(SURF1):c.323+229G>A	SURF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669580	NM_003172.4(SURF1):c.323+20C>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GLikely benign
Select item 215231	NM_003172.4(SURF1):c.322G>A (p.Asp108Asn)	SURF1 (D108N)	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +3 more	GUncertain significance
Select item 704468	NM_003172.4(SURF1):c.321C>T (p.Ala107=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 215237	NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)	SURF1	Indel (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GPathogenic
Select item 139373	NM_003172.4(SURF1):c.280T>C (p.Leu94=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 381516	NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)	SURF1 (L90P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 510539	NM_003172.4(SURF1):c.241-7A>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GLikely benign
Select item 388762	NM_003172.4(SURF1):c.241-7A>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GLikely benign
Select item 378695	NM_003172.4(SURF1):c.240+9C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GBenign/Likely benign
Select item 379506	NM_003172.4(SURF1):c.240+1G>T	SURF1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4K +3 more	GPathogenic
Select item 1316059	NM_003172.4(SURF1):c.209C>G (p.Pro70Arg)	SURF1 (P70R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2501464	NM_003172.4(SURF1):c.184C>A (p.Leu62Ile)	SURF1 (L62I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139372	NM_003172.4(SURF1):c.167C>G (p.Ala56Gly)	SURF1 (A56G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 515899	NM_003172.4(SURF1):c.108G>A (p.Gly36=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +1 more	GLikely benign
Select item 391666	NM_003172.4(SURF1):c.107-19G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GLikely benign
Select item 1214027	NM_003172.4(SURF1):c.107-294C>T	SURF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249259	NM_003172.4(SURF1):c.106+250A>G	SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676422	NM_003172.4(SURF1):c.106+81G>C	SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315638	NM_003172.4(SURF1):c.106G>C (p.Gly36Arg)	SURF1 (G36R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 215230	NM_003172.4(SURF1):c.54+34_55-26del	LOC130002899, SURF1	Deletion (intron variant)	not specified	GBenign
Select item 1236251	NM_003172.4(SURF1):c.54+36C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231736	NM_003172.4(SURF1):c.54+13TGCGGGG[4]	LOC130002899, SURF1	Microsatellite (intron variant)	not provided	GBenign
Select item 496202	NM_003172.4(SURF1):c.54+13TGCGGGG[5]	LOC130002899, SURF1	Microsatellite (intron variant)	Leigh syndrome +1 more	GBenign/Likely benign
Select item 1294259	NM_003172.4(SURF1):c.54+33=	LOC130002899, SURF1	Deletion (intron variant)	not provided	GBenign
Select item 420446	NM_003172.4(SURF1):c.54+9_54+22del	LOC130002899, SURF1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 139379	NM_003172.4(SURF1):c.54+10G>A	SURF1, LOC130002899	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 139378	NM_003172.4(SURF1):c.54+9C>G	LOC130002899, SURF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 215229	NM_003172.4(SURF1):c.40G>A (p.Ala14Thr)	SURF1 (A14T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 215228	NM_003172.4(SURF1):c.17C>T (p.Ala6Val)	SURF1 (A6V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 215241	NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)	SURF1	Deletion (5 prime UTR variant +2 more)	not provided +3 more	GPathogenic
Select item 2663210	NM_003172.4(SURF1):c.-2C>G	SURF1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 382282	NM_003172.4(SURF1):c.-25G>A	SURF1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 139377	NM_003172.2(SURF1):c.-37C>T	SURF1	Single nucleotide variant	not specified +1 more	GBenign
Select item 1198865	NM_017503.5(SURF2):c.-23G>C	SURF2, SURF1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1328859	NM_017503.5(SURF2):c.43C>T (p.His15Tyr)	SURF1, SURF2 (H15Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1211958	NM_017503.5(SURF2):c.69C>T (p.Asp23=)	SURF1, SURF2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1292593	NM_017503.5(SURF2):c.73C>T (p.Arg25Cys)	LOC130002900, SURF1 +1 more (R25C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1219076	NM_017503.5(SURF2):c.78+45T>C	LOC130002900, SURF1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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