NDUFB3[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378249	NM_002491.3(NDUFB3):c.-3+266T>C	NDUFB3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 378250	NM_002491.3(NDUFB3):c.-3+316A>G	NDUFB3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1288452	NM_002491.3(NDUFB3):c.-2-307A>G	NDUFB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675479	NM_002491.3(NDUFB3):c.-2-173A>G	NDUFB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429693	NM_002491.3(NDUFB3):c.4G>A (p.Ala2Thr)	NDUFB3 (A2T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2444770	NM_002491.3(NDUFB3):c.9T>A (p.His3Gln)	NDUFB3 (H3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511372	NM_002491.3(NDUFB3):c.12A>G (p.Glu4=)	NDUFB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1957911	NM_002491.3(NDUFB3):c.13C>T (p.His5Tyr)	NDUFB3 (H5Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490753	NM_002491.3(NDUFB3):c.22_33del (p.4EHGH[1])	NDUFB3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2321731	NM_002491.3(NDUFB3):c.15T>G (p.His5Gln)	NDUFB3 (H5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214762	NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)	NDUFB3 (H7Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1979088	NM_002491.3(NDUFB3):c.20A>C (p.His7Pro)	NDUFB3 (H7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513989	NM_002491.3(NDUFB3):c.55T>G (p.Tyr19Asp)	NDUFB3 (Y19D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678606	NM_002491.3(NDUFB3):c.61C>T (p.Gln21Ter)	NDUFB3 (Q21*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 25	GLikely pathogenic
Select item 252575	NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	NDUFB3 (W22R)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 25 +3 more	GPathogenic/Likely pathogenic
Select item 1723863	NM_002491.3(NDUFB3):c.75A>C (p.Glu25Asp)	NDUFB3 (E25D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716105	NM_002491.3(NDUFB3):c.88G>A (p.Glu30Lys)	NDUFB3 (E30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2371160	NM_002491.3(NDUFB3):c.96C>G (p.Ile32Met)	NDUFB3 (I32M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192614	NM_002491.3(NDUFB3):c.103A>C (p.Lys35Gln)	NDUFB3 (K35Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698952	NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer)	NDUFB3	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 25	GPathogenic
Select item 804353	NM_002491.3(NDUFB3):c.136G>A (p.Gly46Ser)	NDUFB3 (G46S)	Single nucleotide variant (missense variant)	Developmental cataract +3 more	GUncertain significance
Select item 2233753	NM_002491.3(NDUFB3):c.139C>A (p.Arg47Ser)	NDUFB3 (R47S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1542040	NM_002491.3(NDUFB3):c.140+13A>C	NDUFB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672606	NM_002491.3(NDUFB3):c.140+251C>T	NDUFB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987246	NM_002491.3(NDUFB3):c.141-6_141-5dup	NDUFB3	Duplication (intron variant)	not provided	GBenign
Select item 1164948	NM_002491.3(NDUFB3):c.141-5dup	NDUFB3	Duplication (intron variant)	not provided	GBenign
Select item 516886	NM_002491.3(NDUFB3):c.141-5del	NDUFB3	Deletion (intron variant)	not provided	GBenign
Select item 452411	NM_002491.3(NDUFB3):c.163G>C (p.Gly55Arg)	NDUFB3 (G55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429695	NM_002491.3(NDUFB3):c.163G>A (p.Gly55Ser)	NDUFB3 (G55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1049084	NM_002491.3(NDUFB3):c.177G>C (p.Lys59Asn)	NDUFB3 (K59N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559384	NM_002491.3(NDUFB3):c.182T>C (p.Val61Ala)	NDUFB3 (V61A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 520909	NM_002491.3(NDUFB3):c.200del (p.Phe67fs)	NDUFB3 (F67fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 809137	NM_002491.3(NDUFB3):c.201del (p.Phe68fs)	NDUFB3 (F68fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 39836	NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)	NDUFB3 (G70*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2080616	NM_002491.3(NDUFB3):c.218G>T (p.Trp73Leu)	NDUFB3 (W73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919524	NM_002491.3(NDUFB3):c.235G>A (p.Val79Met)	NDUFB3 (V79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372498	NM_002491.3(NDUFB3):c.241G>T (p.Ala81Ser)	NDUFB3 (A81S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254748	NM_002491.3(NDUFB3):c.257A>G (p.Tyr86Cys)	NDUFB3 (Y86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879516	NM_002491.3(NDUFB3):c.288G>A (p.Lys96=)	NDUFB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1227328	NM_002491.3(NDUFB3):c.*119AT[7]	NDUFB3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1209093	NC_000002.12:g.201085817T>C	NDUFB3	Single nucleotide variant	not provided	GLikely benign
Select item 2424472	NC_000002.11:g.(?_201943606)_(201950338_?)del	NDUFB3	Deletion	not provided	GUncertain significance
Select item 253348	GRCh37/hg19 2q33.1(chr2:201949918-201950495)x1	NDUFB3	Copy number loss	See cases	GLikely pathogenic

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Items: 43