ClinVar for Gene (Select 4719) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238827	NM_005006.7(NDUFS1):c.1717G>A (p.Gly573Ser)	NDUFS1 (G462S +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 3234576	NM_005006.7(NDUFS1):c.1470T>C (p.Leu490=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188198	NM_005006.7(NDUFS1):c.541C>G (p.Arg181Gly)	NDUFS1 (R145G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188107	NM_005006.7(NDUFS1):c.1442T>G (p.Leu481Arg)	NDUFS1 (L495R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188071	NM_005006.7(NDUFS1):c.1144C>T (p.Arg382Cys)	NDUFS1 (R271C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068192	NM_005006.7(NDUFS1):c.1364T>C (p.Ile455Thr)	NDUFS1 (I344T +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062492	GRCh37/hg19 2q33.3(chr2:206042721-207004795)x1	INO80D, NDUFS1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 3055370	NM_005006.7(NDUFS1):c.1709-5T>C	NDUFS1	Single nucleotide variant (intron variant)	NDUFS1-related disorder	GLikely benign
Select item 3050783	NM_005006.7(NDUFS1):c.-5+207G>T	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant +1 more)	NDUFS1-related disorder	GLikely benign
Select item 3045558	NM_005006.7(NDUFS1):c.154-10_154-9dup	NDUFS1	Duplication (intron variant)	NDUFS1-related disorder	GLikely benign
Select item 3006880	NM_005006.7(NDUFS1):c.1735A>G (p.Ile579Val)	NDUFS1 (I543V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991996	NM_005006.7(NDUFS1):c.1587C>T (p.Gly529=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990241	NM_005006.7(NDUFS1):c.1509T>C (p.Thr503=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984357	NM_005006.7(NDUFS1):c.338+14A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973225	NM_005006.7(NDUFS1):c.672T>C (p.Asp224=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972944	NM_005006.7(NDUFS1):c.1393-8_1393-7del	NDUFS1	Deletion (intron variant)	not provided	GBenign
Select item 2965466	NM_005006.7(NDUFS1):c.1885-12G>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956853	NM_005006.7(NDUFS1):c.1392+18G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895765	NM_005006.7(NDUFS1):c.1963C>T (p.Arg655Ter)	NDUFS1 (R655* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2885465	NM_005006.7(NDUFS1):c.154-19_154-9del	NDUFS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2873801	NM_005006.7(NDUFS1):c.1122T>C (p.Thr374=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872205	NM_005006.7(NDUFS1):c.551+7T>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859134	NM_005006.7(NDUFS1):c.1263-13G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849263	NM_005006.7(NDUFS1):c.154-8_154-7del	NDUFS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2835685	NM_005006.7(NDUFS1):c.27C>T (p.Ala9=)	NDUFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2769975	NM_005006.7(NDUFS1):c.61+1_61+3del	NDUFS1	Microsatellite (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2766504	NM_005006.7(NDUFS1):c.2135A>G (p.Lys712Arg)	NDUFS1 (K655R +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2729969	NM_005006.7(NDUFS1):c.565A>G (p.Ile189Val)	NDUFS1 (I153V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708405	NM_005006.7(NDUFS1):c.1564C>T (p.Gln522Ter)	NDUFS1 (Q465* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2690651	NM_005006.7(NDUFS1):c.1119dup (p.Thr374fs)	NDUFS1 (T263fs +4 more)	Duplication (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 2689553	NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr)	NDUFS1 (D137Y +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2689552	NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys)	NDUFS1 (E284K +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2671708	NM_005006.7(NDUFS1):c.1990T>G (p.Tyr664Asp)	NDUFS1 (Y553D +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2671664	NM_005006.7(NDUFS1):c.1651G>T (p.Asp551Tyr)	NDUFS1 (D440Y +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2651835	NM_005006.7(NDUFS1):c.1830G>A (p.Val610=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630577	NM_005006.7(NDUFS1):c.86G>A (p.Ser29Asn)	NDUFS1 (S29N +1 more)	Single nucleotide variant (missense variant +1 more)	NDUFS1-related disorder	GUncertain significance
Select item 2630234	NM_005006.7(NDUFS1):c.1773_1774dup (p.Lys592fs)	NDUFS1 (K481fs +4 more)	Microsatellite (frameshift variant)	NDUFS1-related disorder	GLikely pathogenic
Select item 2627982	NM_005006.7(NDUFS1):c.389T>A (p.Ile130Asn)	NDUFS1 (I130N +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2618983	NM_005006.7(NDUFS1):c.1630G>T (p.Val544Leu)	NDUFS1 (V508L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604114	NM_005006.7(NDUFS1):c.1194T>G (p.Asp398Glu)	NDUFS1 (D287E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2521793	NM_005006.7(NDUFS1):c.109G>C (p.Asp37His)	NDUFS1 (D37H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519681	NM_005006.7(NDUFS1):c.1670G>A (p.Arg557Gln)	NDUFS1 (R557Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2512053	NM_005006.7(NDUFS1):c.145G>A (p.Val49Ile)	NDUFS1 (V63I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506502	NM_005006.7(NDUFS1):c.2102G>A (p.Ser701Asn)	NDUFS1 (S590N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2500575	NM_005006.7(NDUFS1):c.473G>A (p.Arg158His)	NDUFS1 (R101H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485777	NM_005006.7(NDUFS1):c.1275T>A (p.Asn425Lys)	NDUFS1 (N439K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462447	NM_005006.7(NDUFS1):c.2071A>G (p.Ile691Val)	NDUFS1 (I655V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462027	NM_005006.7(NDUFS1):c.1610T>C (p.Ile537Thr)	NDUFS1 (I426T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434091	NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)	NDUFS1 (Q220H +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2434090	NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)	NDUFS1 (D136G +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2430648	NM_005006.7(NDUFS1):c.631_633del (p.Glu211del)	NDUFS1 (E100del +4 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 2427935	NM_005006.7(NDUFS1):c.976G>A (p.Val326Ile)	NDUFS1 (V215I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419896	NM_005006.7(NDUFS1):c.460T>C (p.Leu154=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414936	NM_005006.7(NDUFS1):c.297T>G (p.Gly99=)	NDUFS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2409949	NM_005006.7(NDUFS1):c.1417A>G (p.Met473Val)	NDUFS1 (M362V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399065	NM_005006.7(NDUFS1):c.134C>T (p.Pro45Leu)	NDUFS1 (P59L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397919	NM_005006.7(NDUFS1):c.1502G>A (p.Arg501Gln)	NDUFS1 (R444Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371995	NM_005006.7(NDUFS1):c.1759G>C (p.Ala587Pro)	NDUFS1 (A530P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351266	NM_005006.7(NDUFS1):c.926A>G (p.Asn309Ser)	NDUFS1 (N309S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327931	NM_005006.7(NDUFS1):c.1336G>A (p.Gly446Arg)	NDUFS1 (G446R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322802	NM_005006.7(NDUFS1):c.1154A>G (p.Tyr385Cys)	NDUFS1 (Y328C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308108	NM_005006.7(NDUFS1):c.503del (p.Leu168fs)	NDUFS1 (L168fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2300592	NM_005006.7(NDUFS1):c.209C>T (p.Ser70Phe)	NDUFS1 (S13F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277729	NM_005006.7(NDUFS1):c.1646G>A (p.Gly549Glu)	NDUFS1 (G549E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243036	NM_005006.7(NDUFS1):c.350T>G (p.Met117Arg)	NDUFS1 (M131R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231806	NM_005006.7(NDUFS1):c.169G>A (p.Gly57Ser)	NDUFS1 (G57S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2220350	NM_005006.7(NDUFS1):c.127G>A (p.Val43Met)	NDUFS1 (V57M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189855	NM_005006.7(NDUFS1):c.1416A>G (p.Pro472=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187128	NM_005006.7(NDUFS1):c.1780G>A (p.Ala594Thr)	NDUFS1 (A558T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183270	NM_005006.7(NDUFS1):c.1483A>G (p.Ser495Gly)	NDUFS1 (S438G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182118	NM_005006.7(NDUFS1):c.632A>G (p.Glu211Gly)	NDUFS1 (E211G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178669	NM_005006.7(NDUFS1):c.1021A>G (p.Ile341Val)	NDUFS1 (I355V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172076	NM_005006.7(NDUFS1):c.722G>A (p.Arg241Gln)	NDUFS1 (R184Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171376	NM_005006.7(NDUFS1):c.570A>G (p.Ala190=)	NDUFS1	Single nucleotide variant (synonymous variant)	NDUFS1-related disorder +1 more	GLikely benign
Select item 2161999	NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)	NDUFS1 (H408Y +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2150709	NM_005006.7(NDUFS1):c.654G>A (p.Leu218=)	NDUFS1	Single nucleotide variant (synonymous variant)	NDUFS1-related disorder +1 more	GLikely benign
Select item 2148874	NM_005006.7(NDUFS1):c.1505T>G (p.Met502Arg)	NDUFS1 (M466R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2133558	NM_005006.7(NDUFS1):c.2058A>G (p.Pro686=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126533	NM_005006.7(NDUFS1):c.408A>G (p.Glu136=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2120560	NM_005006.7(NDUFS1):c.2092+7A>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2084414	NM_005006.7(NDUFS1):c.1012G>A (p.Val338Met)	NDUFS1 (V338M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082819	NM_005006.7(NDUFS1):c.872+10A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077418	NM_005006.7(NDUFS1):c.154-10_154-5del	NDUFS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2074304	NM_005006.7(NDUFS1):c.1197T>C (p.Val399=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072919	NM_005006.7(NDUFS1):c.78A>G (p.Thr26=)	NDUFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071589	NM_005006.7(NDUFS1):c.1641C>T (p.Leu547=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064601	NM_005006.7(NDUFS1):c.1145G>A (p.Arg382His)	NDUFS1 (R382H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059396	NM_005006.7(NDUFS1):c.1370C>T (p.Ser457Leu)	NDUFS1 (S471L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2049239	NM_005006.7(NDUFS1):c.1255C>T (p.Arg419Ter)	NDUFS1 (R308* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2045627	NM_005006.7(NDUFS1):c.1522G>A (p.Gly508Ser)	NDUFS1 (G472S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037047	NM_005006.7(NDUFS1):c.872+6T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2030124	NM_005006.7(NDUFS1):c.2093-4T>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023042	NM_005006.7(NDUFS1):c.1995C>T (p.Phe665=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017201	NM_005006.7(NDUFS1):c.1968T>C (p.Tyr656=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012669	NM_005006.7(NDUFS1):c.304A>G (p.Ile102Val)	NDUFS1 (I66V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2012652	NM_005006.7(NDUFS1):c.872+12A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011303	NM_005006.7(NDUFS1):c.1995C>A (p.Phe665Leu)	NDUFS1 (F679L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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