79133[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146068	GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3	ESF1, FLRT3 +26 more	Copy number gain	See cases	GUncertain significance
Select item 149958	GRCh38/hg38 20p12.1(chr20:13441077-14062969)x4	ESF1, LOC113939992 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58968	GRCh38/hg38 20p12.1(chr20:13599877-13834151)x3	ESF1, LOC113939992 +5 more	Copy number gain	See cases	GUncertain significance
Select item 1219886	NC_000020.11:g.13784708G>T	ESF1, NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219880	NC_000020.11:g.13784713A>G	ESF1, NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193183	NC_000020.11:g.13784803T>C	ESF1, NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220199	NC_000020.11:g.13784845C>G	ESF1, NDUFAF5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 669696	NM_024120.4(NDUFAF5):c.-208C>T	ESF1, NDUFAF5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 510083	NM_024120.5(NDUFAF5):c.-26G>T	LOC130065433, NDUFAF5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 506323	NM_024120.5(NDUFAF5):c.-17T>C	LOC130065433, NDUFAF5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 214195	NM_024120.5(NDUFAF5):c.-1G>C	LOC130065433, NDUFAF5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2773256	NM_024120.5(NDUFAF5):c.1A>T (p.Met1Leu)	LOC130065433, NDUFAF5 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 2703746	NM_024120.5(NDUFAF5):c.1A>C (p.Met1Leu)	LOC130065433, NDUFAF5 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 2797761	NM_024120.5(NDUFAF5):c.3G>A (p.Met1Ile)	LOC130065433, NDUFAF5 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 3299045	NM_024120.5(NDUFAF5):c.5T>A (p.Leu2Gln)	LOC130065433, NDUFAF5 (L2Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3187533	NM_024120.5(NDUFAF5):c.5T>G (p.Leu2Arg)	LOC130065433, NDUFAF5 (L2R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1132460	NM_024120.5(NDUFAF5):c.7C>A (p.Arg3=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3239844	NM_024120.5(NDUFAF5):c.11dup (p.Ala5fs)	NDUFAF5, LOC130065433 (A5fs)	Duplication (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 728556	NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1615440	NM_024120.5(NDUFAF5):c.12G>C (p.Pro4=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1121545	NM_024120.5(NDUFAF5):c.12G>A (p.Pro4=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2833614	NM_024120.5(NDUFAF5):c.15A>G (p.Ala5=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1134160	NM_024120.5(NDUFAF5):c.18G>A (p.Gly6=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1669084	NM_024120.5(NDUFAF5):c.21C>G (p.Leu7=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1121514	NM_024120.5(NDUFAF5):c.21C>T (p.Leu7=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1983600	NM_024120.5(NDUFAF5):c.23G>A (p.Trp8Ter)	LOC130065433, NDUFAF5 (W8*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 1982970	NM_024120.5(NDUFAF5):c.24G>A (p.Trp8Ter)	LOC130065433, NDUFAF5 (W8*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 618242	NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly)	NDUFAF5, LOC130065433 (R9G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1662426	NM_024120.5(NDUFAF5):c.27C>G (p.Arg9=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1331407	NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs)	LOC130065433, NDUFAF5 (L10fs)	Indel (frameshift variant +2 more)	Leigh syndrome	GLikely pathogenic
Select item 757574	NM_024120.5(NDUFAF5):c.27C>T (p.Arg9=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2825754	NM_024120.5(NDUFAF5):c.28T>C (p.Leu10=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2676972	NM_024120.5(NDUFAF5):c.30_31del (p.Cys11fs)	LOC130065433, NDUFAF5 (C11fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2138338	NM_024120.5(NDUFAF5):c.29T>A (p.Leu10Ter)	LOC130065433, NDUFAF5 (L10*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic
Select item 1106127	NM_024120.5(NDUFAF5):c.30A>G (p.Leu10=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 991356	NM_024120.5(NDUFAF5):c.30A>T (p.Leu10Phe)	LOC130065433, NDUFAF5 (L10F)	Single nucleotide variant (missense variant +2 more)	Leigh syndrome	GUncertain significance
Select item 2200296	NM_024120.5(NDUFAF5):c.33T>A (p.Cys11Ter)	LOC130065433, NDUFAF5 (C11*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1973177	NM_024120.5(NDUFAF5):c.34C>T (p.Arg12Trp)	LOC130065433, NDUFAF5 (R12W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2676977	NM_024120.5(NDUFAF5):c.37C>T (p.Arg13Ter)	LOC130065433, NDUFAF5 (R13*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 1090458	NM_024120.5(NDUFAF5):c.39A>T (p.Arg13=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1161102	NM_024120.5(NDUFAF5):c.40C>G (p.Pro14Ala)	LOC130065433, NDUFAF5 (P14A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2292814	NM_024120.5(NDUFAF5):c.41C>T (p.Pro14Leu)	LOC130065433, NDUFAF5 (P14L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2740288	NM_024120.5(NDUFAF5):c.42T>G (p.Pro14=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2428447	NM_024120.5(NDUFAF5):c.42T>C (p.Pro14=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2121974	NM_024120.5(NDUFAF5):c.42_54del (p.Trp15fs)	LOC130065433, NDUFAF5 (W15fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2139992	NM_024120.5(NDUFAF5):c.44G>A (p.Trp15Ter)	LOC130065433, NDUFAF5 (W15*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2073702	NM_024120.5(NDUFAF5):c.46del (p.Ala16fs)	LOC130065433, NDUFAF5 (A16fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1907809	NM_024120.5(NDUFAF5):c.48_135del (p.Ala17fs)	LOC130065433, NDUFAF5 (A17fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2729518	NM_024120.5(NDUFAF5):c.51G>T (p.Ala17=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1151709	NM_024120.5(NDUFAF5):c.57C>T (p.Val19=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1097224	NM_024120.5(NDUFAF5):c.63G>A (p.Ala21=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3020451	NM_024120.5(NDUFAF5):c.66G>A (p.Glu22=)	NDUFAF5, LOC130065433	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1896052	NM_024120.5(NDUFAF5):c.73G>C (p.Gly25Arg)	LOC130065433, NDUFAF5 (G25R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2085087	NM_024120.5(NDUFAF5):c.78T>G (p.Arg26=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2775919	NM_024120.5(NDUFAF5):c.81G>A (p.Arg27=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2814813	NM_024120.5(NDUFAF5):c.84del (p.Val29fs)	LOC130065433, NDUFAF5 (V29fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2871396	NM_024120.5(NDUFAF5):c.84A>G (p.Glu28=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2676969	NM_024120.5(NDUFAF5):c.85delinsAA (p.Val29fs)	LOC130065433, NDUFAF5 (V29fs)	Indel (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 1950813	NM_024120.5(NDUFAF5):c.87C>T (p.Val29=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2180418	NM_024120.5(NDUFAF5):c.89C>A (p.Thr30Asn)	LOC130065433, NDUFAF5 (T30N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 382472	NM_024120.5(NDUFAF5):c.89C>T (p.Thr30Ile)	LOC130065433, NDUFAF5 (T30I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1541712	NM_024120.5(NDUFAF5):c.90C>T (p.Thr30=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 214203	NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe)	LOC130065433, NDUFAF5 (S31F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 991357	NM_024120.5(NDUFAF5):c.93T>C (p.Ser31=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2083918	NM_024120.5(NDUFAF5):c.99C>A (p.Val33=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2112965	NM_024120.5(NDUFAF5):c.102del (p.Arg36fs)	LOC130065433, NDUFAF5 (R36fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1124038	NM_024120.5(NDUFAF5):c.105C>T (p.Pro35=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2072987	NM_024120.5(NDUFAF5):c.107G>C (p.Arg36Pro)	LOC130065433, NDUFAF5 (R36P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1124306	NM_024120.5(NDUFAF5):c.108C>T (p.Arg36=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2972673	NM_024120.5(NDUFAF5):c.111T>C (p.Gly37=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1651199	NM_024120.5(NDUFAF5):c.114C>T (p.Ser38=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 214201	NM_024120.5(NDUFAF5):c.114C>A (p.Ser38Arg)	LOC130065433, NDUFAF5 (S38R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1117782	NM_024120.5(NDUFAF5):c.117C>G (p.Thr39=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1617853	NM_024120.5(NDUFAF5):c.120G>C (p.Ser40=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1127283	NM_024120.5(NDUFAF5):c.120G>T (p.Ser40=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1107803	NM_024120.5(NDUFAF5):c.129C>T (p.Thr43=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 749590	NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1530821	NM_024120.5(NDUFAF5):c.135T>C (p.Asn45=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1028294	NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys)	LOC130065433, NDUFAF5 (N45K)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1991686	NM_024120.5(NDUFAF5):c.138T>C (p.Ile46=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1553813	NM_024120.5(NDUFAF5):c.141C>T (p.Phe47=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1541890	NM_024120.5(NDUFAF5):c.144C>T (p.Asp48=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1313030	NM_024120.5(NDUFAF5):c.144C>A (p.Asp48Glu)	LOC130065433, NDUFAF5 (D48E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2014194	NM_024120.5(NDUFAF5):c.145C>A (p.Arg49=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1162274	NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly)	LOC130065433, NDUFAF5 (R49G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 803603	NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu)	LOC130065433, NDUFAF5 (R49L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2850806	NM_024120.5(NDUFAF5):c.147G>A (p.Arg49=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2701526	NM_024120.5(NDUFAF5):c.151T>C (p.Leu51=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 225006	NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)	LOC130065433, NDUFAF5 (K52T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GLikely pathogenic
Select item 2676976	NM_024120.5(NDUFAF5):c.165_166del (p.Lys56fs)	LOC130065433, NDUFAF5 (K56fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic

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