ClinVar for Gene (Select 7385) - 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 3331174	NM_003366.4(UQCRC2):c.23G>A (p.Gly8Asp)	UQCRC2 (G8D)	Single nucleotide variant (missense variant)	not specified	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 3242336	GRCh37/hg19 16p12.2(chr16:21805656-22441329)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
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 3186879	NM_003366.4(UQCRC2):c.52G>A (p.Val18Ile)	UQCRC2 (V18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068275	NM_003366.4(UQCRC2):c.117+1G>T	UQCRC2	Single nucleotide variant (splice donor variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 3063437	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3063425	GRCh37/hg19 16p12.2(chr16:21787504-22431357)x3	CDR2, EEF2K +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063414	GRCh37/hg19 16p12.2(chr16:21946522-22710614)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3024602	GRCh37/hg19 16p12.2(chr16:21964745-22456395)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024601	GRCh37/hg19 16p12.2(chr16:21964682-22385940)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024600	GRCh37/hg19 16p12.2(chr16:21771791-22659880)x1	CDR2, EEF2K +9 more	Copy number loss	not provided	GLikely pathogenic
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 2978357	NM_003366.4(UQCRC2):c.34-20C>T	UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2782863	NM_003366.4(UQCRC2):c.34-8A>G	UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725306	NM_003366.4(UQCRC2):c.227A>G (p.Asn76Ser)	UQCRC2 (N76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2578775	GRCh37/hg19 16p12.2(chr16:21858865-22361170)x3	CDR2, EEF2K +7 more	Copy number gain	not provided	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
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 2498684	GRCh37/hg19 16p12.2(chr16:21964745-22385630)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	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 2438492	NM_003366.4(UQCRC2):c.206G>A (p.Ser69Asn)	UQCRC2 (S69N)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 2424677	NC_000016.9:g.(?_21964745)_(21994492_?)dup	UQCRC2	Duplication	not provided	GUncertain significance
Select item 2420224	NM_003366.4(UQCRC2):c.96G>A (p.Pro32=)	UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2211750	NM_003366.4(UQCRC2):c.62A>G (p.Lys21Arg)	UQCRC2 (K21R)	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 2076978	NM_003366.4(UQCRC2):c.80C>T (p.Ala27Val)	UQCRC2 (A27V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1938386	NM_003366.4(UQCRC2):c.164A>C (p.Tyr55Ser)	UQCRC2 (Y55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933769	NM_003366.4(UQCRC2):c.117+7C>T	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 1879353	GRCh37/hg19 16p12.2(chr16:21846039-22385630)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1879352	GRCh37/hg19 16p12.2(chr16:21780595-22385630)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809106	GRCh37/hg19 16p12.2(chr16:21967066-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808745	GRCh37/hg19 16p12.2(chr16:21931248-22431357)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 1808703	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x1	CDR2, EEF2K +9 more	Copy number loss	not provided	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
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 1703608	GRCh37/hg19 16p12.2(chr16:21817921-22710614)	CDR2, EEF2K +8 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1703589	GRCh37/hg19 16p12.2(chr16:21801889-22431357)	CDR2, EEF2K +7 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703534	GRCh37/hg19 16p12.2(chr16:21801889-22710614)	CDR2, EEF2K +8 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703469	NM_003366.4(UQCRC2):c.32C>T (p.Ser11Leu)	UQCRC2 (S11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684662	NC_000016.10:g.21936825_22429665del	CDR2, LOC130058629 +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
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 1508789	NM_003366.4(UQCRC2):c.95C>T (p.Pro32Leu)	UQCRC2 (P32L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1472476	NC_000016.9:g.(?_21964745)_(21994492_?)del	UQCRC2	Deletion	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 1341992	GRCh37/hg19 16p12.2(chr16:21837492-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 1341020	GRCh37/hg19 16p12.2(chr16:21761404-22431357)x3	CDR2, EEF2K +8 more	Copy number gain	not provided	GUncertain significance

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