Related gene-specific medical variations for Gene (Select 6834) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379918	NM_003172.4(SURF1):c.79A>G (p.Ser27Gly)	LOC130002899, SURF1 (S27G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362570	NM_003172.4(SURF1):c.782_791del (p.Gly261fs)	SURF1 (G152fs +1 more)	Deletion (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 3064912	NM_003172.4(SURF1):c.827_828del (p.Val276fs)	SURF1 (V167fs +1 more)	Deletion (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 3064361	NM_003172.4(SURF1):c.657_658del (p.Asn220fs)	SURF1 (N111fs +1 more)	Microsatellite (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2999164	NM_003172.4(SURF1):c.54+11G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2984476	NM_003172.4(SURF1):c.54+10G>C	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2982584	NM_003172.4(SURF1):c.55-10G>A	SURF1, LOC130002899	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2920231	NM_003172.4(SURF1):c.54+8C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2917213	NM_003172.4(SURF1):c.55-4G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2915667	NM_003172.4(SURF1):c.54+40_55del	LOC130002899, SURF1	Deletion (splice acceptor variant +1 more)	Leigh syndrome	GLikely pathogenic
Select item 2894694	NM_003172.4(SURF1):c.54+9C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2877063	NM_003172.4(SURF1):c.72C>T (p.Ala24=)	LOC130002899, SURF1	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome	GLikely benign
Select item 2872022	NM_003172.4(SURF1):c.54+16G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2867169	NM_003172.4(SURF1):c.54+1G>A	LOC130002899, SURF1	Single nucleotide variant (splice donor variant)	Leigh syndrome	GLikely pathogenic
Select item 2751740	NM_003172.4(SURF1):c.69C>A (p.Ala23=)	LOC130002899, SURF1	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome	GLikely benign
Select item 2739043	NM_003172.4(SURF1):c.55-18G>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2720563	NM_003172.4(SURF1):c.54+17G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2413158	NM_003172.4(SURF1):c.65del (p.Ser22fs)	LOC130002899, SURF1 (S22fs)	Deletion (frameshift variant +1 more)	Leigh syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2413157	NM_003172.4(SURF1):c.49G>T (p.Gly17Ter)	LOC130002899, SURF1 (G17*)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2173775	NM_003172.4(SURF1):c.59C>G (p.Pro20Arg)	LOC130002899, SURF1 (P20R)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 2144457	NM_003172.4(SURF1):c.55-16CCGT[3]	SURF1, LOC130002899	Microsatellite (intron variant)	Leigh syndrome	GLikely benign
Select item 2120237	NM_003172.4(SURF1):c.54+5_54+6delinsTT	LOC130002899, SURF1	Indel (intron variant)	Leigh syndrome	GUncertain significance
Select item 2090024	NM_003172.4(SURF1):c.55-5C>G	SURF1, LOC130002899	Single nucleotide variant (intron variant)	Leigh syndrome	GUncertain significance
Select item 2067130	NM_003172.4(SURF1):c.75GAG[3] (p.Arg26_Ser27insArg)	LOC130002899, SURF1	Microsatellite (inframe_insertion +1 more)	Leigh syndrome	GUncertain significance
Select item 2054227	NM_003172.4(SURF1):c.55-20C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2046313	NM_003172.4(SURF1):c.54+15C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2041571	NM_003172.4(SURF1):c.83T>C (p.Val28Ala)	LOC130002899, SURF1 (V28A)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 2022950	NM_003172.4(SURF1):c.55-13T>C	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1973892	NM_003172.4(SURF1):c.69C>T (p.Ala23=)	LOC130002899, SURF1	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome	GLikely benign
Select item 1964508	NM_003172.4(SURF1):c.59C>T (p.Pro20Leu)	LOC130002899, SURF1 (P20L)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 1961985	NM_003172.4(SURF1):c.54+34_55-2del	LOC130002899, SURF1	Deletion (splice acceptor variant +1 more)	Leigh syndrome	GLikely pathogenic
Select item 1898920	NM_003172.4(SURF1):c.55-19C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1878293	NM_003172.4(SURF1):c.55-5C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1683296	NM_003172.4(SURF1):c.51_54+1dup	LOC130002899, SURF1	Duplication (splice donor variant)	Leigh syndrome	GLikely pathogenic
Select item 1606894	NM_003172.4(SURF1):c.54+19G>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1577716	NM_003172.4(SURF1):c.78G>A (p.Arg26=)	LOC130002899, SURF1	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome	GLikely benign
Select item 1576448	NM_003172.4(SURF1):c.54+9_54+15del	LOC130002899, SURF1	Deletion (intron variant)	Leigh syndrome	GLikely benign
Select item 1566606	NM_003172.4(SURF1):c.54+12G>A	SURF1, LOC130002899	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 1536974	NM_003172.4(SURF1):c.57C>T (p.Ala19=)	LOC130002899, SURF1	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome	GLikely benign
Select item 1509553	NM_003172.4(SURF1):c.56C>T (p.Ala19Val)	LOC130002899, SURF1 (A19V)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 1460027	NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)	LOC130002899, SURF1 (W25*)	Single nucleotide variant (nonsense +1 more)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1416703	NM_003172.4(SURF1):c.55G>C (p.Ala19Pro)	LOC130002899, SURF1 (A19P)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 1398896	NM_003172.4(SURF1):c.81C>A (p.Ser27Arg)	LOC130002899, SURF1 (S27R)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 1397724	NM_003172.4(SURF1):c.58_59dup (p.Ala21fs)	LOC130002899, SURF1 (A21fs)	Duplication (frameshift variant +1 more)	Leigh syndrome	GPathogenic
Select item 1323661	NM_003172.4(SURF1):c.815_818dup (p.Gln273fs)	SURF1 (Q164fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1294259	NM_003172.4(SURF1):c.54+33=	LOC130002899, SURF1	Deletion (intron variant)	not provided	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 1100312	NM_003172.4(SURF1):c.54+9_54+29del	LOC130002899, SURF1	Deletion (intron variant)	Leigh syndrome	GLikely benign
Select item 1097645	NM_003172.4(SURF1):c.55-4G>C	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 996855	NM_003172.4(SURF1):c.549_566del (p.Arg184_Pro189del)	SURF1	Deletion (inframe_deletion)	Leigh syndrome	GUncertain significance
Select item 987058	NM_003172.4(SURF1):c.312_317del (p.Leu105_Pro106del)	SURF1	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 987057	NM_003172.4(SURF1):c.319G>T (p.Ala107Ser)	SURF1 (A107S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 987056	NM_003172.4(SURF1):c.320_321del (p.Ala107fs)	SURF1 (A107fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 757887	NM_003172.4(SURF1):c.84C>T (p.Val28=)	LOC130002899, SURF1	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome	GLikely benign
Select item 559281	NM_003172.4(SURF1):c.54+30_54+31insCC	LOC130002899, SURF1	Insertion (intron variant)	not provided	GBenign
Select item 496202	NM_003172.4(SURF1):c.54+13TGCGGGG[5]	SURF1, LOC130002899	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
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 215230	NM_003172.4(SURF1):c.54+34_55-26del	LOC130002899, SURF1	Deletion (intron variant)	not specified	GBenign
Select item 139379	NM_003172.4(SURF1):c.54+10G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +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

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Links from Gene

Items: 61