ClinVar for Gene (Select 25915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187468	NM_199069.2(NDUFAF3):c.44C>T (p.Pro15Leu)	LOC129936729, NDUFAF3 (P15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187460	NM_199069.2(NDUFAF3):c.367A>T (p.Thr123Ser)	NDUFAF3 (T66S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2823089	NM_199069.2(NDUFAF3):c.270+7C>T	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816509	NM_199069.2(NDUFAF3):c.438+12G>C	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2674637	NM_199069.2(NDUFAF3):c.77+1G>A	LOC129936729, NDUFAF3	Single nucleotide variant (intron variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic
Select item 2674636	NM_199069.2(NDUFAF3):c.302G>A (p.Ser101Asn)	NDUFAF3 (S101N +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic
Select item 2623428	NM_199069.2(NDUFAF3):c.50T>C (p.Leu17Pro)	LOC129936729, NDUFAF3 (L17P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620077	NM_199069.2(NDUFAF3):c.347T>C (p.Val116Ala)	NDUFAF3 (V59A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585571	NM_199069.2(NDUFAF3):c.127C>T (p.Gln43Ter)	LOC129936730, NDUFAF3 (Q43*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GLikely pathogenic
Select item 2561293	NM_199069.2(NDUFAF3):c.443A>G (p.Asn148Ser)	NDUFAF3 (N148S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493629	NM_199069.2(NDUFAF3):c.67G>C (p.Glu23Gln)	LOC129936729, NDUFAF3 (E23Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464562	NM_199069.2(NDUFAF3):c.343G>C (p.Val115Leu)	NDUFAF3 (V115L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434086	NM_199069.2(NDUFAF3):c.517G>A (p.Gly173Arg)	NDUFAF3 (G116R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2313288	NM_199069.2(NDUFAF3):c.214G>C (p.Gly72Arg)	LOC129936731, NDUFAF3 (G15R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274321	NM_199069.2(NDUFAF3):c.142T>C (p.Ser48Pro)	NDUFAF3 (S48P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266638	NM_199069.2(NDUFAF3):c.152A>T (p.Gln51Leu)	NDUFAF3 (Q51L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250883	NM_199069.2(NDUFAF3):c.32A>G (p.Tyr11Cys)	LOC129936729, NDUFAF3 (Y11C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247126	NM_199069.2(NDUFAF3):c.514G>A (p.Gly172Arg)	NDUFAF3 (G172R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212944	NM_199069.2(NDUFAF3):c.92G>A (p.Gly31Glu)	LOC129936730, NDUFAF3 (G31E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2159215	NM_199069.2(NDUFAF3):c.336A>T (p.Ile112=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2157306	NM_199069.2(NDUFAF3):c.18G>C (p.Ala6=)	LOC129936729, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2135416	NM_199069.2(NDUFAF3):c.79G>A (p.Ala27Thr)	LOC129936730, NDUFAF3 (A27T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123633	NM_199069.2(NDUFAF3):c.519G>A (p.Gly173=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092221	NM_199069.2(NDUFAF3):c.270+15G>T	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024476	NM_199069.2(NDUFAF3):c.232C>G (p.Pro78Ala)	NDUFAF3, LOC129936731 (P21A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019516	NM_199069.2(NDUFAF3):c.422T>C (p.Val141Ala)	NDUFAF3 (V141A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001489	NM_199069.2(NDUFAF3):c.270+6T>C	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1965843	NM_199069.2(NDUFAF3):c.348G>C (p.Val116=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964190	NM_199069.2(NDUFAF3):c.271-8del	NDUFAF3	Deletion (intron variant)	not provided	GUncertain significance
Select item 1956077	NM_199069.2(NDUFAF3):c.77+10G>C	LOC129936729, NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956076	NM_199069.2(NDUFAF3):c.77+10del	LOC129936729, NDUFAF3	Deletion (intron variant)	not provided	GLikely benign
Select item 1955683	NM_199069.2(NDUFAF3):c.271-9C>T	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1927978	NM_199069.2(NDUFAF3):c.30G>A (p.Leu10=)	LOC129936729, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924835	NM_199069.2(NDUFAF3):c.338-11C>T	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922088	NM_199069.2(NDUFAF3):c.438+14C>G	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918231	NM_199069.2(NDUFAF3):c.88C>G (p.Arg30Gly)	LOC129936730, NDUFAF3 (R30G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907091	NM_199069.2(NDUFAF3):c.460A>G (p.Asn154Asp)	NDUFAF3 (N154D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902775	NM_199069.2(NDUFAF3):c.105G>A (p.Ser35=)	LOC129936730, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899524	NM_199069.2(NDUFAF3):c.337+15G>A	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898113	NM_199069.2(NDUFAF3):c.34C>G (p.Arg12Gly)	LOC129936729, NDUFAF3 (R12G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704902	NM_199069.2(NDUFAF3):c.334A>T (p.Ile112Leu)	NDUFAF3 (I112L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695075	NM_199069.2(NDUFAF3):c.486A>G (p.Val162=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671360	NM_199069.2(NDUFAF3):c.204C>T (p.Phe68=)	LOC129936731, NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620893	NM_199069.2(NDUFAF3):c.552A>G (p.Gln184=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546259	NM_199069.2(NDUFAF3):c.468G>T (p.Leu156=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1519839	NM_199069.2(NDUFAF3):c.149T>C (p.Leu50Pro)	NDUFAF3 (L50P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1473689	NM_199069.2(NDUFAF3):c.248C>T (p.Pro83Leu)	NDUFAF3 (P26L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374128	NM_199069.2(NDUFAF3):c.104C>T (p.Ser35Leu)	LOC129936730, NDUFAF3 (S35L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1243511	NM_199073.2(NDUFAF3):c.-134G>T	DALRD3, NDUFAF3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1213231	NM_199069.2(NDUFAF3):c.271-57G>C	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211219	NM_199073.2(NDUFAF3):c.-164A>G	DALRD3, NDUFAF3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1207415	NM_199069.2(NDUFAF3):c.74C>T (p.Pro25Leu)	LOC129936729, NDUFAF3 (P25L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1203524	NM_199073.2(NDUFAF3):c.-95+147C>A	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178121	NM_199069.2(NDUFAF3):c.270+35C>G	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 1030419	NM_199069.2(NDUFAF3):c.112G>A (p.Asp38Asn)	LOC129936730, NDUFAF3 (D38N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GUncertain significance
Select item 1013475	NM_199069.2(NDUFAF3):c.29T>C (p.Leu10Ser)	LOC129936729, NDUFAF3 (L10S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 970436	NM_199069.2(NDUFAF3):c.131G>A (p.Arg44Gln)	LOC129936730, NDUFAF3 (R44Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 916467	NM_199069.2(NDUFAF3):c.431A>G (p.Gln144Arg)	NDUFAF3 (Q87R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902657	NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr)	NDUFAF3 (N64T +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 902656	NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile)	LOC129936729, NDUFAF3 (S9I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 902655	NM_199069.1(NDUFAF3):c.-143A>T	NDUFAF3	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901752	NM_199069.1(NDUFAF3):c.-503G>C	NDUFAF3	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901751	NM_199069.1(NDUFAF3):c.-503G>A	NDUFAF3	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901274	NM_199069.2(NDUFAF3):c.*243G>A	NDUFAF3	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901273	NM_199069.2(NDUFAF3):c.*98A>G	NDUFAF3	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901272	NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser)	NDUFAF3 (L122S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 900110	NM_199069.2(NDUFAF3):c.258G>A (p.Val86=)	NDUFAF3	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 900109	NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe)	LOC129936731, NDUFAF3 (L19F +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 900108	NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu)	LOC129936731, NDUFAF3 (M12L +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 796285	NM_199069.2(NDUFAF3):c.297A>G (p.Glu99=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746337	NM_199069.2(NDUFAF3):c.144T>A (p.Ser48=)	NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731405	NM_199069.2(NDUFAF3):c.271-10C>G	NDUFAF3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725936	NM_199069.2(NDUFAF3):c.338-5C>T	NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681408	NM_199069.2(NDUFAF3):c.78-14C>G	LOC129936730, NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 638292	NM_199069.2(NDUFAF3):c.494C>T (p.Ala165Val)	NDUFAF3 (A108V +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GLikely pathogenic
Select item 632420	NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter)	NDUFAF3 (Q127* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 18 +1 more	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 517003	NM_199069.2(NDUFAF3):c.77+11A>C	LOC129936729, NDUFAF3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 516396	NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=)	NDUFAF3	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 516376	NM_199069.2(NDUFAF3):c.438+10G>A	NDUFAF3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 514204	NM_199069.2(NDUFAF3):c.78-4G>A	LOC129936730, NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511870	NM_199069.2(NDUFAF3):c.270+15_270+16delinsAA	NDUFAF3	Indel (intron variant)	not specified	GLikely benign
Select item 508308	NM_199069.2(NDUFAF3):c.87G>T (p.Arg29=)	LOC129936730, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 507254	NM_199069.2(NDUFAF3):c.271-15C>T	NDUFAF3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 420990	NM_199069.2(NDUFAF3):c.447del (p.Cys150fs)	NDUFAF3 (C150fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 392137	NM_199069.2(NDUFAF3):c.438+11G>A	NDUFAF3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 384581	NM_199069.2(NDUFAF3):c.210A>C (p.Ile70=)	LOC129936731, NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381886	NM_199069.1(NDUFAF3):c.-373G>A	NDUFAF3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 378246	NM_199069.2(NDUFAF3):c.255G>A (p.Ser85=)	NDUFAF3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 377248	NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)	NDUFAF3 (Y63* +1 more)	Duplication (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372432	NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs)	NDUFAF3 (G164fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 345969	NM_199069.2(NDUFAF3):c.*194G>C	NDUFAF3	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance

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