LBHD1[gene] - ClinVar

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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)	CSKMT, 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)	CSKMT, LBHD1 (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_024099.5(LBHD1):c.-11+217C>A	LBHD1, UQCC3 (A134E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1226789	NM_024099.5(LBHD1):c.-11+190C>T	LBHD1, UQCC3 (A125V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 509463	NM_024099.5(LBHD1):c.-152C>G	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 provided +1 more	GBenign
Select item 2896471	NM_024099.5(LBHD1):c.-392C>T	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)	UQCC3, LBHD1 (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 provided +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)	UQCC3, LBHD1 (G84R)	Single nucleotide variant (missense variant)	UQCC3-related disorder +2 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)	UQCC3, LBHD1 (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	ACTN3, ACY3 +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	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1411712	NC_000011.9:g.(?_62380754)_(62472984_?)dup	B3GAT3, GANAB +8 more	Duplication	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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

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Items: 81