790955[geneid] - ClinVar

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Items: 49

	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 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

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Items: 49