"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SURF1"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 587

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	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 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 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 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)	See cases +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 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 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 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 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)	not specified +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
Select item 2103290	NM_003172.4(SURF1):c.831C>A (p.Thr277=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2800065	NM_003172.4(SURF1):c.828G>A (p.Val276=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2126957	NM_003172.4(SURF1):c.827T>C (p.Val276Ala)	SURF1 (V167A +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 520390	NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup)	SURF1	Duplication (inframe_insertion)	Leigh syndrome	GConflicting classifications of pathogenicity
Select item 944915	NM_003172.4(SURF1):c.815_825dup (p.Val276fs)	SURF1 (V276fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic
Select item 521139	NM_003172.4(SURF1):c.826G>A (p.Val276Met)	SURF1 (V276M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2735360	NM_003172.4(SURF1):c.820_824dup (p.Val276fs)	SURF1 (V167fs +1 more)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1136647	NM_003172.4(SURF1):c.825C>T (p.Ile275=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GLikely benign
Select item 2202418	NM_003172.4(SURF1):c.823A>G (p.Ile275Val)	SURF1 (I275V +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 1461063	NM_003172.4(SURF1):c.823A>T (p.Ile275Phe)	SURF1 (I166F +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 644994	NM_003172.4(SURF1):c.823A>C (p.Ile275Leu)	SURF1 (I166L +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 2724078	NM_003172.4(SURF1):c.822C>T (p.Tyr274=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2177217	NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)	SURF1 (Y165C +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GPathogenic
Select item 215239	NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)	SURF1	Duplication (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2707562	NM_003172.4(SURF1):c.808_817dup (p.Gln273fs)	SURF1 (Q164fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic
Select item 2445743	NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)	SURF1 (Q164* +1 more)	Single nucleotide variant (nonsense)	Leigh syndrome	GPathogenic
Select item 2733528	NM_003172.4(SURF1):c.816G>A (p.Leu272=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2002730	NM_003172.4(SURF1):c.815T>C (p.Leu272Pro)	SURF1 (L272P +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 2839076	NM_003172.4(SURF1):c.814C>T (p.Leu272=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2735361	NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)	SURF1 (E270* +1 more)	Single nucleotide variant (nonsense)	Leigh syndrome	GPathogenic
Select item 526789	NM_003172.4(SURF1):c.808G>A (p.Glu270Lys)	SURF1 (E270K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2834164	NM_003172.4(SURF1):c.795_804dup (p.Asn269fs)	SURF1 (N160fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic
Select item 2727846	NM_003172.4(SURF1):c.804del (p.Asn269fs)	SURF1 (N160fs +1 more)	Deletion (frameshift variant)	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 854292	NM_003172.4(SURF1):c.804G>C (p.Arg268Ser)	SURF1 (R159S +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 912548	NM_003172.4(SURF1):c.801G>A (p.Leu267=)	SURF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2058692	NM_003172.4(SURF1):c.800T>C (p.Leu267Pro)	SURF1 (L267P +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 218303	NM_003172.4(SURF1):c.799_800del (p.Leu267fs)	SURF1 (L158fs +1 more)	Microsatellite (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2900912	NM_003172.4(SURF1):c.799C>T (p.Leu267=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 1919069	NM_003172.4(SURF1):c.798T>C (p.Thr266=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign

<< First< Prev

Page of 6