ClinVar for MedGen (Select 44095) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233835	NM_198239.2(CCN6):c.737T>C (p.Leu246Pro)	CCN6 (L246P)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +1 more	GLikely pathogenic
Select item 3022732	NM_003172.4(SURF1):c.588+9C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 3022076	NM_003172.4(SURF1):c.180C>T (p.Ser60=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 3020746	NM_003172.4(SURF1):c.204C>G (p.Leu68=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 3020380	NM_003172.4(SURF1):c.1A>G (p.Met1Val)	SURF1 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Leigh syndrome	GPathogenic
Select item 3020281	NM_003172.4(SURF1):c.833+7C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 3019796	NM_003172.4(SURF1):c.589-14A>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 3019517	NM_003172.4(SURF1):c.323+11G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 3017643	NM_003172.4(SURF1):c.106+14G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 3015018	NM_003172.4(SURF1):c.282G>A (p.Leu94=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 3014595	NM_003172.4(SURF1):c.489C>G (p.Val163=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 3010524	NM_003172.4(SURF1):c.323+20C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 3007658	NM_003172.4(SURF1):c.323+7G>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 3007554	NM_003172.4(SURF1):c.533dup (p.Asn178fs)	SURF1 (N69fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic
Select item 3006546	NM_003172.4(SURF1):c.444G>A (p.Glu148=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 3003787	NM_003172.4(SURF1):c.24G>A (p.Gln8=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 3003393	NM_003172.4(SURF1):c.864G>T (p.Leu288=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 3002391	NM_003172.4(SURF1):c.589-5T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2999188	NM_003172.4(SURF1):c.204C>T (p.Leu68=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	SURF1-related disorder +1 more	GLikely benign
Select item 2999164	NM_003172.4(SURF1):c.54+11G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2998270	NM_003172.4(SURF1):c.107-15T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2996148	NM_003172.4(SURF1):c.129A>G (p.Arg43=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2994896	NM_003172.4(SURF1):c.752-8C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2992829	NM_003172.4(SURF1):c.654T>C (p.Pro218=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2991947	NM_003172.4(SURF1):c.202C>T (p.Leu68Phe)	SURF1 (L68F)	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 2991325	NM_003172.4(SURF1):c.738T>C (p.Ile246=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2991086	NM_003172.4(SURF1):c.609C>T (p.Leu203=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2988068	NM_003172.4(SURF1):c.106+15_106+16insA	SURF1	Insertion (intron variant)	Leigh syndrome	GLikely benign
Select item 2984476	NM_003172.4(SURF1):c.54+10G>C	SURF1, LOC130002899	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2983889	NM_003172.4(SURF1):c.579_580del (p.Lys194fs)	SURF1 (K194fs +1 more)	Deletion (frameshift variant)	Leigh syndrome	GPathogenic
Select item 2982584	NM_003172.4(SURF1):c.55-10G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2976943	NM_003172.4(SURF1):c.639G>A (p.Arg213=)	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 2975040	NM_003172.4(SURF1):c.480C>T (p.Ala160=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2972169	NM_003172.4(SURF1):c.372G>T (p.Gly124=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2967817	NM_003172.4(SURF1):c.891A>G (p.Thr297=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2966940	NM_003172.4(SURF1):c.515+12_515+13del	SURF1	Deletion (intron variant)	Leigh syndrome	GLikely benign
Select item 2966447	NM_003172.4(SURF1):c.589-9C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2964864	NM_003172.4(SURF1):c.107-8C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2956549	NM_003172.4(SURF1):c.732C>T (p.Ile244=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2955897	NM_003172.4(SURF1):c.752-11T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2920523	NM_003172.4(SURF1):c.240+15C>T	SURF1	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 2919689	NM_003172.4(SURF1):c.234A>G (p.Thr78=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2919392	NM_003172.4(SURF1):c.9G>A (p.Ala3=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2918744	NM_003172.4(SURF1):c.323+11G>T	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 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	SURF1, LOC130002899	Deletion (splice acceptor variant +1 more)	Leigh syndrome	GLikely pathogenic
Select item 2912375	NM_003172.4(SURF1):c.589-17C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2911357	NM_003172.4(SURF1):c.30G>A (p.Gly10=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2910844	NM_003172.4(SURF1):c.426T>C (p.Pro142=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2909368	NM_003172.4(SURF1):c.241-11T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2908455	NM_003172.4(SURF1):c.585C>T (p.Gly195=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2908410	NM_003172.4(SURF1):c.87C>T (p.Leu29=)	SURF1	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome	GLikely benign
Select item 2907021	NM_003172.4(SURF1):c.588+15C>T	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 2905830	NM_003172.4(SURF1):c.1A>T (p.Met1Leu)	SURF1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Leigh syndrome	GPathogenic
Select item 2901683	NM_003172.4(SURF1):c.515+15T>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2900912	NM_003172.4(SURF1):c.799C>T (p.Leu267=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2900586	NM_003172.4(SURF1):c.306T>G (p.Pro102=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2899457	NM_003172.4(SURF1):c.516-6C>T	SURF1	Single nucleotide variant (intron 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 2895985	NM_003172.4(SURF1):c.588+8A>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2895236	NM_003172.4(SURF1):c.323+14T>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2894694	NM_003172.4(SURF1):c.54+9C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2892849	NM_003172.4(SURF1):c.369G>C (p.Arg123Ser)	SURF1 (R14S +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 2889856	NM_003172.4(SURF1):c.107-4C>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2888407	NM_003172.4(SURF1):c.252G>T (p.Arg84=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2885445	NM_003172.4(SURF1):c.323+12G>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2885116	NM_003172.4(SURF1):c.747C>T (p.Asn249=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2879322	NM_003172.4(SURF1):c.171A>G (p.Glu57=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2878829	NM_003172.4(SURF1):c.6_22dup (p.Gln8fs)	SURF1 (Q8fs)	Duplication (5 prime UTR variant +1 more)	Leigh syndrome	GPathogenic
Select item 2878764	NM_003172.4(SURF1):c.489C>T (p.Val163=)	SURF1	Single nucleotide variant (synonymous 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 2876658	NM_003172.4(SURF1):c.106+16C>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2872952	NM_003172.4(SURF1):c.588+17C>T	SURF1	Single nucleotide variant (intron variant)	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 2871913	NM_003172.4(SURF1):c.324-6A>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2871501	NM_003172.4(SURF1):c.468T>C (p.Thr156=)	SURF1	Single nucleotide variant (synonymous 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 2863720	NM_003172.4(SURF1):c.470dup (p.Ser158fs)	SURF1 (S49fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic
Select item 2861529	NM_003172.4(SURF1):c.588+1G>C	SURF1	Single nucleotide variant (splice donor variant)	Leigh syndrome	GPathogenic
Select item 2860260	NM_003172.4(SURF1):c.752-20dup	SURF1	Duplication (intron variant)	Leigh syndrome	GLikely benign
Select item 2860147	NM_003172.4(SURF1):c.34C>A (p.Arg12=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2857600	NM_003172.4(SURF1):c.42G>A (p.Ala14=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 2855889	NM_003172.4(SURF1):c.589-19C>G	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2853080	NM_003172.4(SURF1):c.751+16G>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2852233	NM_003172.4(SURF1):c.107-17G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2850326	NM_003172.4(SURF1):c.240+1G>A	SURF1	Single nucleotide variant (splice donor variant)	Leigh syndrome	GPathogenic
Select item 2849462	NM_003172.4(SURF1):c.833+17C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2849156	NM_003172.4(SURF1):c.501C>T (p.His167=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2848954	NM_003172.4(SURF1):c.606C>T (p.Asp202=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2847656	NM_003172.4(SURF1):c.648T>C (p.Phe216=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2846788	NM_003172.4(SURF1):c.752-17G>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2839145	NM_003172.4(SURF1):c.589-20T>C	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 2839076	NM_003172.4(SURF1):c.814C>T (p.Leu272=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome	GLikely benign
Select item 2835305	NM_003172.4(SURF1):c.535dup (p.Arg179fs)	SURF1 (R179fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic
Select item 2835259	NC_000009.12:g.133354954_133354958del	SURF1	Deletion	Leigh syndrome	GPathogenic
Select item 2834164	NM_003172.4(SURF1):c.795_804dup (p.Asn269fs)	SURF1 (N160fs +1 more)	Duplication (frameshift variant)	Leigh syndrome	GPathogenic

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