ClinVar for Gene (Select 54539) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 225

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370379	GRCh38/hg38 Xp11.3(chrX:46270996-47571920)x2	LOC130068194, LOC130068195 +67 more	Copy number gain	Intellectual disability	GUncertain significance
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
Select item 3351811	NM_001135998.3(NDUFB11):c.207+9C>T	NDUFB11	Single nucleotide variant (intron variant)	NDUFB11-related disorder	GLikely benign
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 3299057	NM_001135998.3(NDUFB11):c.79G>C (p.Val27Leu)	NDUFB11 (V27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299056	NM_001135998.3(NDUFB11):c.356G>A (p.Arg119His)	NDUFB11 (R119H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246829	NC_000023.10:g.(?_47001716)_(47006917_?)dup	NDUFB11, RBM10	Duplication	not provided	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3187831	NM_001135998.3(NDUFB11):c.7G>A (p.Ala3Thr)	NDUFB11 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064543	NM_001135998.3(NDUFB11):c.261G>A (p.Met87Ile)	NDUFB11 (M87I)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 3	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3046527	NM_001135998.3(NDUFB11):c.198G>A (p.Leu66=)	NDUFB11	Single nucleotide variant (synonymous variant)	NDUFB11-related disorder	GLikely benign
Select item 2984503	NM_001135998.3(NDUFB11):c.338+38G>A	NDUFB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887553	NM_001135998.3(NDUFB11):c.338+33A>G	NDUFB11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2834875	NM_001135998.3(NDUFB11):c.208-10T>G	NDUFB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728459	NM_001135998.3(NDUFB11):c.241G>A (p.Val81Ile)	NDUFB11 (V81I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718165	NM_001135998.3(NDUFB11):c.408C>G (p.Ile136Met)	NDUFB11 (I136M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691430	NM_001135998.3(NDUFB11):c.282C>T (p.Gly94=)	NDUFB11	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2660397	NM_001135998.3(NDUFB11):c.69G>A (p.Pro23=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660396	NM_001135998.3(NDUFB11):c.124G>T (p.Ala42Ser)	NDUFB11 (A42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660395	NM_001135998.3(NDUFB11):c.282C>G (p.Gly94=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632865	NM_001135998.3(NDUFB11):c.427G>C (p.Asp143His)	NDUFB11 (D143H +1 more)	Single nucleotide variant (missense variant)	NDUFB11-related disorder	GUncertain significance
Select item 2584528	NM_001135998.3(NDUFB11):c.385C>T (p.Arg129Ter)	NDUFB11 (R129* +1 more)	Single nucleotide variant (nonsense)	Linear skin defects with multiple congenital anomalies 3 +1 more	GLikely pathogenic
Select item 2511600	NM_001135998.3(NDUFB11):c.25A>G (p.Ser9Gly)	NDUFB11 (S9G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511547	NM_001135998.3(NDUFB11):c.341T>G (p.Met114Arg)	NDUFB11 (M114R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499133	NM_001135998.3(NDUFB11):c.34del (p.Arg12fs)	NDUFB11 (R12fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2442422	NM_001135998.3(NDUFB11):c.270CTT[2] (p.Phe93del)	NDUFB11 (F93del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 2427222	NC_000023.10:g.(?_46466387)_(47489243_?)del	ARAF, CDK16 +15 more	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	ARAF, CDK16 +35 more	Deletion	not provided	GPathogenic
Select item 2241285	NM_001135998.3(NDUFB11):c.181C>T (p.Pro61Ser)	NDUFB11 (P61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136820	NM_001135998.3(NDUFB11):c.252C>T (p.Val84=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076270	NM_001135998.3(NDUFB11):c.258C>T (p.Asn86=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076218	NM_001135998.3(NDUFB11):c.426C>T (p.Phe142=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070798	NM_001135998.3(NDUFB11):c.231C>A (p.Asp77Glu)	NDUFB11 (D77E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051789	NM_001135998.3(NDUFB11):c.338+21C>T	NDUFB11 (A120V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2050306	NM_001135998.3(NDUFB11):c.338+17A>G	NDUFB11 (R119G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2028432	NM_001135998.3(NDUFB11):c.240C>A (p.Pro80=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028115	NM_001135998.3(NDUFB11):c.338+22G>T	NDUFB11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2027025	NM_001135998.3(NDUFB11):c.268G>A (p.Val90Ile)	NDUFB11 (V90I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982597	NM_001135998.3(NDUFB11):c.249C>T (p.Asp83=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956810	NM_001135998.3(NDUFB11):c.360C>T (p.Arg120=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919336	NM_001135998.3(NDUFB11):c.338+11T>C	NDUFB11 (C117R)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1879761	NM_001135998.3(NDUFB11):c.404C>T (p.Pro135Leu)	NDUFB11 (P135L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1808417	GRCh37/hg19 Xp11.23(chrX:46780978-47184052)x3	CDK16, INE1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1804013	NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro)	NDUFB11 (S96P)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 30	GLikely pathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 1685961	NM_001135998.3(NDUFB11):c.416C>T (p.Ser139Phe)	NDUFB11 (S139F +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1437660	NM_001135998.3(NDUFB11):c.415T>G (p.Ser139Ala)	NDUFB11 (S139A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1409269	NM_001135998.3(NDUFB11):c.358C>T (p.Arg120Cys)	NDUFB11 (R120C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356793	NM_001135998.3(NDUFB11):c.355C>T (p.Arg119Cys)	NDUFB11 (R119C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1299427	NM_001135998.3(NDUFB11):c.83G>T (p.Arg28Leu)	NDUFB11 (R28L)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 3	GUncertain significance
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 1284247	NC_000023.11:g.47142212C>T	NDUFB11	Single nucleotide variant	not provided	GBenign
Select item 1273220	NM_001135998.3(NDUFB11):c.207+4A>G	NDUFB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208546	NM_001135998.3(NDUFB11):c.207+15G>C	NDUFB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203263	NM_001135998.3(NDUFB11):c.207+2T>G	NDUFB11	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1064806	NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs)	NDUFB11 (T52fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1048558	NM_001135998.3(NDUFB11):c.2T>A (p.Met1Lys)	NDUFB11 (M1K)	Single nucleotide variant (missense variant +1 more)	Linear skin defects with multiple congenital anomalies 3	GUncertain significance
Select item 1027717	NM_001135998.3(NDUFB11):c.260T>C (p.Met87Thr)	NDUFB11 (M87T)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 30	GUncertain significance
Select item 1012863	NM_001135998.3(NDUFB11):c.327G>C (p.Leu109=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1011944	NC_000023.10:g.(?_46696536)_(47436910_?)dup	ARAF, CDK16 +12 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979776	GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3	INE1, NDUFB11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 788165	NM_001135998.3(NDUFB11):c.255G>C (p.Trp85Cys)	NDUFB11 (W85C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734370	NM_001135998.3(NDUFB11):c.283G>A (p.Val95Ile)	NDUFB11 (V95I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 724450	NM_001135998.3(NDUFB11):c.390G>A (p.Glu130=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 704117	NM_001135998.3(NDUFB11):c.207+9C>G	NDUFB11	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 703984	NM_001135998.3(NDUFB11):c.250G>A (p.Val84Ile)	NDUFB11 (V84I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 689468	NM_001135998.3(NDUFB11):c.427G>A (p.Asp143Asn)	NDUFB11 (D143N +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 30 +1 more	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 3