LBHD1[gene] - ClinVar

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

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 2467546	NM_024099.5(LBHD1):c.757G>A (p.Gly253Arg)	C11orf98, LBHD1 (G318R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557949	NM_024099.5(LBHD1):c.753C>G (p.Ser251Arg)	C11orf98, LBHD1 (S208R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290210	NM_024099.5(LBHD1):c.575T>G (p.Val192Gly)	C11orf98, LBHD1 (V192G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290208	NM_024099.5(LBHD1):c.542C>T (p.Ala181Val)	C11orf98, LBHD1 (A107V +7 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3078055	NM_001043229.2(CSKMT):c.91G>A (p.Ala31Thr)	CSKMT, LBHD1 +1 more (A31T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726523	NM_001043229.2(CSKMT):c.181C>T (p.Gln61Ter)	CSKMT, LBHD1 +1 more (Q61*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 3269780	NM_001043229.2(CSKMT):c.184G>C (p.Gly62Arg)	LOC130005846, LBHD1 +1 more (G62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269778	NM_001043229.2(CSKMT):c.229C>G (p.Leu77Val)	CSKMT, LBHD1 (L77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078045	NM_001043229.2(CSKMT):c.233G>C (p.Arg78Pro)	CSKMT, LBHD1 +1 more (R78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078046	NM_001043229.2(CSKMT):c.248G>C (p.Gly83Ala)	CSKMT, LBHD1 +1 more (G83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078047	NM_001043229.2(CSKMT):c.268T>C (p.Cys90Arg)	CSKMT, LBHD1 +1 more (C90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078048	NM_001043229.2(CSKMT):c.347T>G (p.Met116Arg)	CSKMT, LBHD1 (M116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078050	NM_001043229.2(CSKMT):c.353G>T (p.Ser118Ile)	CSKMT, LBHD1 (S118I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078051	NM_001043229.2(CSKMT):c.398A>G (p.His133Arg)	CSKMT, LBHD1 (H133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078052	NM_001043229.2(CSKMT):c.511C>T (p.Arg171Trp)	CSKMT, LBHD1 (R171W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078053	NM_001043229.2(CSKMT):c.512G>C (p.Arg171Pro)	CSKMT, LBHD1 (R171P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570350	NM_001043229.2(CSKMT):c.556A>G (p.Arg186Gly)	CSKMT, LBHD1 (R186G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623396	NM_001043229.2(CSKMT):c.650C>G (p.Thr217Ser)	CSKMT, LBHD1 (T217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269779	NM_001043229.2(CSKMT):c.670G>C (p.Gly224Arg)	LBHD1, CSKMT (G224R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078054	NM_001043229.2(CSKMT):c.674C>T (p.Pro225Leu)	CSKMT, LBHD1 (P225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612892	NM_024099.5(LBHD1):c.391G>A (p.Asp131Asn)	CSKMT, LBHD1 (D131N +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2487654	NM_024099.5(LBHD1):c.390G>C (p.Gln130His)	CSKMT, LBHD1 (Q155H +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290209	NM_024099.5(LBHD1):c.371T>A (p.Leu124His)	CSKMT, LBHD1 (L124H +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2478688	NM_024099.5(LBHD1):c.346C>G (p.Pro116Ala)	CSKMT, LBHD1 (P142A +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290211	NM_024099.5(LBHD1):c.334G>T (p.Asp112Tyr)	CSKMT, LBHD1 (D38Y +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527767	NM_024099.5(LBHD1):c.311C>G (p.Pro104Arg)	LBHD1 (P160R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532736	NM_024099.5(LBHD1):c.305A>G (p.Glu102Gly)	LBHD1 (E102G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117984	NM_024099.5(LBHD1):c.216T>G (p.Ser72Arg)	LBHD1 (S97R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117983	NM_024099.5(LBHD1):c.176C>T (p.Pro59Leu)	LBHD1 (P84L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2365523	NM_024099.5(LBHD1):c.142C>T (p.His48Tyr)	LBHD1 (H104Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366241	NM_024099.5(LBHD1):c.69G>T (p.Gln23His)	LBHD1 (Q23H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290207	NM_024099.5(LBHD1):c.24C>G (p.Ser8Arg)	LBHD1 (S172R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684317	NM_001085372.2(UQCC3):c.-399G>T	LBHD1, UQCC3 (A134E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1226789	NC_000011.10:g.62671374G>A	LBHD1, UQCC3 (A125V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 509463	NM_001085372.3(UQCC3):c.-41G>C	LBHD1, UQCC3 (R15G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2327261	NM_001085372.3(UQCC3):c.8C>A (p.Ser3Tyr)	LBHD1, UQCC3 (S3Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515951	NM_001085372.3(UQCC3):c.17A>G (p.Lys6Arg)	LBHD1, UQCC3 (K6R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3331165	NM_001085372.3(UQCC3):c.56G>C (p.Gly19Ala)	LBHD1, UQCC3 (G19A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3186858	NM_001085372.3(UQCC3):c.58G>C (p.Val20Leu)	LBHD1, UQCC3 (V20L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 161120	NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu)	LBHD1, UQCC3 (V20E)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 9	GPathogenic
Select item 680931	NM_001085372.3(UQCC3):c.87C>T (p.Thr29=)	LBHD1, UQCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381444	NM_001085372.3(UQCC3):c.121-11C>T	LBHD1, UQCC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2896471	NM_001085372.3(UQCC3):c.121-8G>A	LBHD1, UQCC3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2065272	NM_001085372.3(UQCC3):c.121-1G>A	LBHD1, UQCC3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1944225	NM_001085372.3(UQCC3):c.142A>G (p.Arg48Gly)	LBHD1, UQCC3 (R48G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2082566	NM_001085372.3(UQCC3):c.143G>A (p.Arg48Lys)	LBHD1, UQCC3 (R48K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1981922	NM_001085372.3(UQCC3):c.155A>C (p.Glu52Ala)	LBHD1, UQCC3 (E52A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 3186855	NM_001085372.3(UQCC3):c.163A>G (p.Arg55Gly)	LBHD1, UQCC3 (R55G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3186856	NM_001085372.3(UQCC3):c.167C>T (p.Thr56Ile)	LBHD1, UQCC3 (T56I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1924751	NM_001085372.3(UQCC3):c.204G>C (p.Ala68=)	LBHD1, UQCC3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 781960	NM_001085372.3(UQCC3):c.206C>T (p.Thr69Ile)	LBHD1, UQCC3 (T69I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1929614	NM_001085372.3(UQCC3):c.210G>A (p.Thr70=)	LBHD1, UQCC3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3186857	NM_001085372.3(UQCC3):c.215A>T (p.Glu72Val)	LBHD1, UQCC3 (E72V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286657	NM_001085372.3(UQCC3):c.223G>T (p.Ala75Ser)	LBHD1, UQCC3 (A75S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 376907	NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly)	LBHD1, UQCC3 (W76G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2266852	NM_001085372.3(UQCC3):c.230G>A (p.Arg77Lys)	LBHD1, UQCC3 (R77K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2715131	NM_001085372.3(UQCC3):c.233A>G (p.Lys78Arg)	LBHD1, UQCC3 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 380190	NM_001085372.3(UQCC3):c.250G>C (p.Gly84Arg)	LBHD1, UQCC3 (G84R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 781961	NM_001085372.3(UQCC3):c.256G>A (p.Gly86Ser)	LBHD1, UQCC3 (G86S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2309434	NM_001085372.3(UQCC3):c.257G>A (p.Gly86Asp)	LBHD1, UQCC3 (G86D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 380147	NM_001085372.3(UQCC3):c.265G>A (p.Gly89Ser)	LBHD1, UQCC3 (G89S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 753446	NM_001085372.3(UQCC3):c.276A>C (p.Ser92=)	LBHD1, UQCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 388355	NM_001085372.3(UQCC3):c.*11G>A	UQCC3, LBHD1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3244796	NC_000011.9:g.(?_62414014)_(62439586_?)dup	CSKMT, GANAB +3 more	Duplication	not provided	GUncertain significance
Select item 3244693	NC_000011.9:g.(?_62439218)_(62470041_?)dup	BSCL2, LBHD1 +3 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1411712	NC_000011.9:g.(?_62380754)_(62472984_?)dup	B3GAT3, BSCL2 +8 more	Duplication	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 81