Related gene-specific medical variations for Gene (Select 79081) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2623396	NM_001043229.2(CSKMT):c.650C>G (p.Thr217Ser)	CSKMT, LBHD1 (T217S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2570350	NM_001043229.2(CSKMT):c.556A>G (p.Arg186Gly)	CSKMT, LBHD1 (R186G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2327261	NM_001085372.3(UQCC3):c.8C>A (p.Ser3Tyr)	LBHD1, UQCC3 (S3Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309434	NM_001085372.3(UQCC3):c.257G>A (p.Gly86Asp)	LBHD1, UQCC3 (G86D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286657	NM_001085372.3(UQCC3):c.223G>T (p.Ala75Ser)	UQCC3, LBHD1 (A75S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266852	NM_001085372.3(UQCC3):c.230G>A (p.Arg77Lys)	LBHD1, UQCC3 (R77K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 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 1981922	NM_001085372.3(UQCC3):c.155A>C (p.Glu52Ala)	LBHD1, UQCC3 (E52A)	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 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 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 781961	NM_001085372.3(UQCC3):c.256G>A (p.Gly86Ser)	LBHD1, UQCC3 (G86S)	Single nucleotide variant (missense variant)	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 753446	NM_001085372.3(UQCC3):c.276A>C (p.Ser92=)	LBHD1, UQCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 680931	NM_001085372.3(UQCC3):c.87C>T (p.Thr29=)	LBHD1, UQCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 388355	NM_001085372.3(UQCC3):c.*11G>A	UQCC3, LBHD1	Single nucleotide variant (3 prime UTR variant)	not specified	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 380190	NM_001085372.3(UQCC3):c.250G>C (p.Gly84Arg)	LBHD1, UQCC3 (G84R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 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 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

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Links from Gene

Items: 32