Related gene-specific medical variations for Gene (Select 255762) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380376	NM_003366.4(UQCRC2):c.1255G>A (p.Val419Met)	UQCRC2, PDZD9 (V419M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338703	NM_003366.4(UQCRC2):c.291C>G (p.Phe97Leu)	PDZD9, UQCRC2 (F97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3331173	NM_003366.4(UQCRC2):c.865C>T (p.Leu289Phe)	PDZD9, UQCRC2 (L289F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331172	NM_003366.4(UQCRC2):c.440G>A (p.Arg147His)	PDZD9, UQCRC2 (R147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186882	NM_003366.4(UQCRC2):c.907A>G (p.Ser303Gly)	PDZD9, UQCRC2 (S303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186881	NM_003366.4(UQCRC2):c.832G>A (p.Ala278Thr)	PDZD9, UQCRC2 (A278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186880	NM_003366.4(UQCRC2):c.683C>T (p.Pro228Leu)	PDZD9, UQCRC2 (P228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3006611	NM_003366.4(UQCRC2):c.1170G>A (p.Glu390=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999321	NM_003366.4(UQCRC2):c.1243C>T (p.Gln415Ter)	PDZD9, UQCRC2 (Q415*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2965831	NM_003366.4(UQCRC2):c.265C>T (p.Leu89=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965791	NM_003366.4(UQCRC2):c.324C>G (p.Gly108=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895866	NM_003366.4(UQCRC2):c.1332G>A (p.Leu444=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886523	NM_003366.4(UQCRC2):c.612+7A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871323	NM_003366.4(UQCRC2):c.543T>C (p.Ala181=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700195	NM_003366.4(UQCRC2):c.258A>G (p.Thr86=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633906	NM_003366.4(UQCRC2):c.250C>T (p.Arg84Cys)	PDZD9, UQCRC2 (R84C)	Single nucleotide variant (missense variant)	UQCRC2-related disorder	GUncertain significance
Select item 2620485	NM_003366.4(UQCRC2):c.1064A>G (p.Tyr355Cys)	PDZD9, UQCRC2 (Y355C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2556834	NM_003366.4(UQCRC2):c.967G>A (p.Val323Ile)	PDZD9, UQCRC2 (V323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547903	NM_003366.4(UQCRC2):c.405G>C (p.Glu135Asp)	PDZD9, UQCRC2 (E135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528137	NM_003366.4(UQCRC2):c.364A>G (p.Thr122Ala)	PDZD9, UQCRC2 (T122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506293	NM_003366.4(UQCRC2):c.729dup (p.Leu244fs)	PDZD9, UQCRC2 (L244fs)	Duplication (frameshift variant)	Mitochondrial complex III deficiency nuclear type 5	GLikely pathogenic
Select item 2476898	NM_003366.4(UQCRC2):c.1048G>A (p.Val350Ile)	PDZD9, UQCRC2 (V350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460639	NM_003366.4(UQCRC2):c.443G>A (p.Arg148His)	PDZD9, UQCRC2 (R148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446878	NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)	PDZD9, UQCRC2 (F146S)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 2446877	NM_003366.4(UQCRC2):c.1189G>A (p.Gly397Arg)	PDZD9, UQCRC2 (G397R)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 2444151	NM_003366.4(UQCRC2):c.1254dup (p.Val419fs)	PDZD9, UQCRC2 (V419fs)	Duplication (frameshift variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 2394289	NM_003366.4(UQCRC2):c.662T>C (p.Ile221Thr)	PDZD9, UQCRC2 (I221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393231	NM_003366.4(UQCRC2):c.380G>A (p.Arg127Gln)	UQCRC2, PDZD9 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214167	NM_003366.4(UQCRC2):c.425C>T (p.Thr142Ile)	PDZD9, UQCRC2 (T142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2115246	NM_003366.4(UQCRC2):c.613-14T>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020145	NM_003366.4(UQCRC2):c.988T>C (p.Tyr330His)	PDZD9, UQCRC2 (Y330H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009451	NM_003366.4(UQCRC2):c.849A>G (p.Ala283=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994628	NM_003366.4(UQCRC2):c.1141G>A (p.Gly381Arg)	PDZD9, UQCRC2 (G381R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993439	NM_003366.4(UQCRC2):c.948A>C (p.Ala316=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990016	NM_003366.4(UQCRC2):c.966+13A>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1983605	NM_003366.4(UQCRC2):c.902G>A (p.Arg301Lys)	PDZD9, UQCRC2 (R301K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982468	NM_003366.4(UQCRC2):c.267+9C>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973240	NM_003366.4(UQCRC2):c.1014T>G (p.Ile338Met)	PDZD9, UQCRC2 (I338M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970687	NM_003366.4(UQCRC2):c.242A>G (p.His81Arg)	PDZD9, UQCRC2 (H81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950201	NM_003366.4(UQCRC2):c.967-11T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945580	NM_003366.4(UQCRC2):c.268-15T>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1942651	NM_003366.4(UQCRC2):c.766+17A>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931857	NM_003366.4(UQCRC2):c.390-14G>A	UQCRC2, PDZD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930898	NM_003366.4(UQCRC2):c.390-9C>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930438	NM_003366.4(UQCRC2):c.760C>T (p.Arg254Cys)	PDZD9, UQCRC2 (R254C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927837	NM_003366.4(UQCRC2):c.671-12C>A	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913181	NM_003366.4(UQCRC2):c.251G>A (p.Arg84His)	PDZD9, UQCRC2 (R84H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910478	NM_003366.4(UQCRC2):c.767-19A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896469	NM_003366.4(UQCRC2):c.1278+18T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801128	NM_003366.4(UQCRC2):c.1280C>T (p.Ala427Val)	PDZD9, UQCRC2 (A427V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678323	NM_003366.4(UQCRC2):c.967-1G>A	PDZD9, UQCRC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1661328	NM_003366.4(UQCRC2):c.670+17G>A	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656697	NM_003366.4(UQCRC2):c.1020T>C (p.Thr340=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572850	NM_003366.4(UQCRC2):c.1125-5G>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561694	NM_003366.4(UQCRC2):c.514+9A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486882	NM_003366.4(UQCRC2):c.418G>A (p.Val140Ile)	PDZD9, UQCRC2 (V140I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483299	NM_003366.4(UQCRC2):c.1314G>A (p.Met438Ile)	PDZD9, UQCRC2 (M438I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478886	NM_003366.4(UQCRC2):c.1312A>G (p.Met438Val)	PDZD9, UQCRC2 (M438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475270	NM_003366.4(UQCRC2):c.625G>A (p.Val209Ile)	PDZD9, UQCRC2 (V209I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443152	NM_003366.4(UQCRC2):c.916A>G (p.Thr306Ala)	PDZD9, UQCRC2 (T306A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412534	NM_003366.4(UQCRC2):c.416A>G (p.Asn139Ser)	PDZD9, UQCRC2 (N139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311711	NM_003366.4(UQCRC2):c.1020dup (p.Ile341fs)	PDZD9, UQCRC2 (I341fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1298129	NM_003366.4(UQCRC2):c.1279-105dup	PDZD9, UQCRC2	Duplication (intron variant)	not provided	GBenign
Select item 1292276	NM_003366.4(UQCRC2):c.767-108T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289465	NM_003366.4(UQCRC2):c.1047+189G>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271787	NM_003366.4(UQCRC2):c.267+208A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264100	NM_003366.4(UQCRC2):c.1125-47dup	PDZD9, UQCRC2	Duplication (intron variant)	not provided	GBenign
Select item 1254725	NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro)	PDZD9, UQCRC2 (L89P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1235956	NM_003366.4(UQCRC2):c.1278+101T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211429	NM_003366.4(UQCRC2):c.1047+70C>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209490	NM_003366.4(UQCRC2):c.389+76G>A	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207386	NM_003366.4(UQCRC2):c.967-145A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207004	NM_003366.4(UQCRC2):c.613-112C>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200225	NM_003366.4(UQCRC2):c.966+30T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194249	NM_003366.4(UQCRC2):c.*11C>A	PDZD9, UQCRC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1177305	NM_003366.4(UQCRC2):c.323G>A (p.Gly108Asp)	PDZD9, UQCRC2 (G108D)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GPathogenic
Select item 1032124	NM_003366.4(UQCRC2):c.661A>T (p.Ile221Phe)	PDZD9, UQCRC2 (I221F)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 1029699	NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro)	PDZD9, UQCRC2 (S410P)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 996066	NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala)	PDZD9, UQCRC2 (G222A)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GPathogenic
Select item 775106	NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro)	UQCRC2, PDZD9 (Q318P)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GLikely benign
Select item 739227	NM_003366.4(UQCRC2):c.270G>A (p.Thr90=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738924	NM_003366.4(UQCRC2):c.534T>C (p.His178=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734842	NM_003366.4(UQCRC2):c.588G>A (p.Arg196=)	UQCRC2, PDZD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732802	NM_003366.4(UQCRC2):c.515-4A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715678	NM_003366.4(UQCRC2):c.333-7G>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675590	NM_003366.4(UQCRC2):c.613-96A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674891	NM_003366.4(UQCRC2):c.767-50A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514605	NM_003366.4(UQCRC2):c.567C>T (p.Pro189=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 513950	NM_003366.4(UQCRC2):c.624C>T (p.Phe208=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 507942	NM_003366.4(UQCRC2):c.1124+12T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 430296	NM_003366.4(UQCRC2):c.757_766+3del	PDZD9, UQCRC2	Deletion (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 430295	NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His)	PDZD9, UQCRC2 (Y121H)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GConflicting classifications of pathogenicity
Select item 389796	NM_003366.4(UQCRC2):c.1279-16G>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 389024	NM_003366.4(UQCRC2):c.967-9A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 387755	NM_003366.4(UQCRC2):c.582C>T (p.Asp194=)	UQCRC2, PDZD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 385447	NM_003366.4(UQCRC2):c.315A>T (p.Ala105=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 383046	NM_003366.4(UQCRC2):c.420C>G (p.Val140=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 382034	NM_003366.4(UQCRC2):c.442C>A (p.Arg148Ser)	PDZD9, UQCRC2 (R148S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 381445	NM_003366.4(UQCRC2):c.1048-7G>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 380590	NM_003366.4(UQCRC2):c.761G>A (p.Arg254His)	PDZD9, UQCRC2 (R254H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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