"GeneDx"[submitter] AND "NDUFB11"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 1284247	NC_000023.11:g.47142212C>T	NDUFB11	Single nucleotide variant	not provided	GBenign
Select item 1699747	NM_001135998.3(NDUFB11):c.445C>A (p.Leu149Met)	NDUFB11 (L149M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372149	NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys)	NDUFB11 (E121K +1 more)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 3 +1 more	GPathogenic/Likely pathogenic
Select item 704717	NM_001135998.3(NDUFB11):c.338+22G>A	NDUFB11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 449223	NM_001135998.3(NDUFB11):c.338+2T>A	NDUFB11 (C114S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2442422	NM_001135998.3(NDUFB11):c.270CTT[2] (p.Phe93del)	NDUFB11 (F93del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 190302	NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)	NDUFB11 (R88*)	Single nucleotide variant (nonsense)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GPathogenic
Select item 1412128	NM_001135998.3(NDUFB11):c.229G>A (p.Asp77Asn)	NDUFB11 (D77N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372822	NM_001135998.3(NDUFB11):c.224G>A (p.Gly75Asp)	NDUFB11 (G75D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208546	NM_001135998.3(NDUFB11):c.207+15G>C	NDUFB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 704117	NM_001135998.3(NDUFB11):c.207+9C>G	NDUFB11	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1273220	NM_001135998.3(NDUFB11):c.207+4A>G	NDUFB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203263	NM_001135998.3(NDUFB11):c.207+2T>G	NDUFB11	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 445503	NM_001135998.3(NDUFB11):c.152C>A (p.Pro51Gln)	NDUFB11 (P51Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343216	NM_001135998.3(NDUFB11):c.83G>C (p.Arg28Pro)	NDUFB11 (R28P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188447	NM_005676.5(RBM10):c.-172C>T	LOC130068208, NDUFB11 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1296132	NM_005676.5(RBM10):c.-149T>C	LOC130068208, NDUFB11 +1 more (S6P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360778	NM_001135998.3(NDUFB11):c.101C>T (p.Ser34Phe)	NDUFB11 (S34F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360179	NM_001135998.3(NDUFB11):c.8C>T (p.Ala3Val)	NDUFB11 (A3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 36