ClinVar for Gene (Select 4697) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255019	NM_002489.4(NDUFA4):c.131+1G>A	NDUFA4	Single nucleotide variant (splice donor variant)	Mitochondrial complex 4 deficiency, nuclear type 21	GLikely pathogenic
Select item 3245874	NC_000007.13:g.(?_10973263)_(10973339_?)dup	NDUFA4	Duplication	not provided	GUncertain significance
Select item 3245873	NC_000007.13:g.(?_10973263)_(10979684_?)dup	NDUFA4	Duplication	not provided	GUncertain significance
Select item 3006267	NM_002489.4(NDUFA4):c.86C>T (p.Ala29Val)	NDUFA4 (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974948	NM_002489.4(NDUFA4):c.43-18_43-14del	NDUFA4	Deletion (intron variant)	not provided	GUncertain significance
Select item 2972773	NM_002489.4(NDUFA4):c.109G>C (p.Ala37Pro)	NDUFA4 (A37P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830529	NM_002489.4(NDUFA4):c.3_4delinsCT (p.Met1_Leu2delinsIlePhe)	NDUFA4	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2799347	NM_002489.4(NDUFA4):c.190-8G>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743353	NM_002489.4(NDUFA4):c.219G>A (p.Lys73=)	NDUFA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722768	NM_002489.4(NDUFA4):c.42+8C>G	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662453	NM_002489.4(NDUFA4):c.30G>A (p.Lys10=)	NDUFA4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2657322	NM_002489.4(NDUFA4):c.6C>A (p.Leu2=)	NDUFA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610658	NM_002489.4(NDUFA4):c.143A>C (p.Asn48Thr)	NDUFA4 (N48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579040	GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3	ARL4A, DGKB +7 more	Copy number gain	not provided	GUncertain significance
Select item 2463351	NM_002489.4(NDUFA4):c.103C>G (p.Arg35Gly)	NDUFA4 (R35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455816	NM_002489.4(NDUFA4):c.95A>C (p.Tyr32Ser)	NDUFA4 (Y32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444066	NM_002489.4(NDUFA4):c.42+1del	NDUFA4	Deletion (splice donor variant)	Mitochondrial complex 4 deficiency, nuclear type 21	GPathogenic
Select item 2422106	NM_002489.4(NDUFA4):c.19G>A (p.Gly7Ser)	NDUFA4 (G7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414232	NM_002489.4(NDUFA4):c.190-5C>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194288	NM_002489.4(NDUFA4):c.149C>G (p.Pro50Arg)	NDUFA4 (P50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155249	NM_002489.4(NDUFA4):c.190-8G>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132811	NM_002489.4(NDUFA4):c.190-10C>G	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095588	NM_002489.4(NDUFA4):c.42+20C>G	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067273	NM_002489.4(NDUFA4):c.176A>G (p.Asn59Ser)	NDUFA4 (N59S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2055105	NM_002489.4(NDUFA4):c.218A>G (p.Lys73Arg)	NDUFA4 (K73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023647	NM_002489.4(NDUFA4):c.189+14T>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002904	NM_002489.4(NDUFA4):c.189+12A>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936684	NM_002489.4(NDUFA4):c.190-12_190-11del	NDUFA4	Deletion (intron variant)	not provided	GBenign
Select item 1918500	NM_002489.4(NDUFA4):c.214A>G (p.Ser72Gly)	NDUFA4 (S72G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1917668	NM_002489.4(NDUFA4):c.43-20C>G	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908781	NM_002489.4(NDUFA4):c.4C>T (p.Leu2Phe)	NDUFA4 (L2F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899128	NM_002489.4(NDUFA4):c.180T>C (p.Asp60=)	NDUFA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1447744	NM_002489.4(NDUFA4):c.135G>C (p.Trp45Cys)	NDUFA4 (W45C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1338842	GRCh38/hg38 7p21.3(chr7:10609869-11290301)	LOC100131472, LOC110120772 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1320569	NM_002489.4(NDUFA4):c.42+313del	NDUFA4	Deletion (intron variant)	not provided	GLikely benign
Select item 1320278	GRCh37/hg19 7p21.3-21.2(chr7:8980970-14085991)x3	ARL4A, ETV1 +6 more	Copy number gain	7p21.3p21.2 microduplication	GLikely pathogenic
Select item 1318947	NM_002489.4(NDUFA4):c.42+50G>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318340	NC_000007.14:g.10940440T>C	NDUFA4	Single nucleotide variant	not provided	GLikely benign
Select item 1318156	NC_000007.14:g.10940254T>C	NDUFA4	Single nucleotide variant	not provided	GLikely benign
Select item 1318146	NM_002489.4(NDUFA4):c.132-116A>G	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318130	NM_002489.4(NDUFA4):c.42+24A>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317990	NM_002489.4(NDUFA4):c.190-50C>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317856	NM_002489.4(NDUFA4):c.42+236dup	NDUFA4	Duplication (intron variant)	not provided	GLikely benign
Select item 1317513	NM_002489.4(NDUFA4):c.43-3T>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294022	NM_002489.4(NDUFA4):c.42+207G>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291023	NM_002489.4(NDUFA4):c.190-43G>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287603	NC_000007.14:g.10940291C>A	NDUFA4	Single nucleotide variant	not provided	GBenign
Select item 1224062	NM_002489.4(NDUFA4):c.189+87C>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176532	NM_002489.4(NDUFA4):c.25del (p.Ala9fs)	NDUFA4 (A9fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 980254	GRCh37/hg19 7p21.3(chr7:10712710-11500366)x3	THSD7A, PHF14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980250	GRCh37/hg19 7p21.3(chr7:10528678-11457492)x3	THSD7A, PHF14 +1 more	Copy number gain	not provided	GLikely benign
Select item 977513	NM_002489.4(NDUFA4):c.42+1G>C	NDUFA4	Single nucleotide variant (splice donor variant)	Mitochondrial complex 4 deficiency, nuclear type 21	GPathogenic
Select item 814932	GRCh37/hg19 7p21.3(chr7:10116563-11737690)x3	THSD7A, NDUFA4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 682709	NM_002489.4(NDUFA4):c.131+161T>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682708	NM_002489.4(NDUFA4):c.43-266T>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682704	NM_002489.4(NDUFA4):c.42+247T>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677068	NM_002489.3(NDUFA4):c.-233G>T	NDUFA4	Single nucleotide variant	not provided	GLikely benign
Select item 677067	NM_002489.3(NDUFA4):c.-234G>A	NDUFA4	Single nucleotide variant	not provided	GLikely benign
Select item 676940	NM_002489.4(NDUFA4):c.43-120A>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676243	NM_002489.3(NDUFA4):c.-253T>C	NDUFA4	Single nucleotide variant	not provided	GBenign
Select item 673394	NM_002489.4(NDUFA4):c.189+281A>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 563374	GRCh37/hg19 7p21.3(chr7:10866366-11568530)x3	PHF14, THSD7A +1 more	Copy number gain	not provided	GLikely benign
Select item 515233	NM_002489.4(NDUFA4):c.-18G>T	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442550	GRCh37/hg19 7p21.3(chr7:10635991-11383182)x3	NDUFA4, PHF14	Copy number gain	See cases	GUncertain significance
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442338	GRCh37/hg19 7p21.3(chr7:9645570-12393614)x3	NDUFA4, PHF14 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 441604	GRCh37/hg19 7p21.3(chr7:10275242-11803023)x4	NDUFA4, PHF14 +1 more	Copy number gain	See cases	GLikely benign
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 388754	NM_002489.4(NDUFA4):c.-6G>A	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381433	NM_002489.4(NDUFA4):c.-13C>T	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 380557	NM_002489.4(NDUFA4):c.-7C>T	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 161064	GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3	LOC100131472, LOC110120772 +11 more	Copy number gain	See cases	GUncertain significance
Select item 156432	NM_002489.4(NDUFA4):c.77C>T (p.Ala26Val)	NDUFA4 (A26V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148289	GRCh38/hg38 7p21.3(chr7:10835790-11523056)x3	LOC113687186, LOC129389746 +7 more	Copy number gain	See cases	GLikely benign
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59567	GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3	LOC100131472, LOC113687186 +9 more	Copy number gain	See cases	GUncertain significance
Select item 59566	GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4	LOC100131472, LOC110120772 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic

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