7385[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 148674	GRCh38/hg38 16p12.2(chr16:21717046-22634444)x3	CDR2, CDR2-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 154236	GRCh38/hg38 16p12.2(chr16:21750083-22430686)x1	CDR2, CDR2-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 153646	GRCh38/hg38 16p12.2(chr16:21750083-22420036)x1	CDR2, CDR2-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 149749	GRCh38/hg38 16p12.2(chr16:21786451-22547506)x3	CDR2, CDR2-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 155340	GRCh38/hg38 16p12.2(chr16:21790568-22430686)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 153825	GRCh38/hg38 16p12.2(chr16:21790568-22420036)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 151183	GRCh38/hg38 16p12.2(chr16:21790568-22699293)x1	CDR2, CDR2-DT +40 more	Copy number loss	See cases	GUncertain significance
Select item 57550	GRCh38/hg38 16p12.2(chr16:21794978-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 56991	GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GBenign
Select item 160945	GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3	CDR2, EEF2K +32 more	Copy number gain	See cases	GUncertain significance
Select item 160908	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 148730	GRCh38/hg38 16p12.2(chr16:21826171-22436900)x3	CDR2, CDR2-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 146090	GRCh38/hg38 16p12.2(chr16:21826171-22358401)x1	CDR2, EEF2K +32 more	Copy number loss	See cases	GUncertain significance
Select item 57551	GRCh38/hg38 16p12.2(chr16:21826171-22634444)x1	CDR2, CDR2-DT +39 more	Copy number loss	See cases	GUncertain significance
Select item 34545	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3	CDR2, CDR2-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 32255	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance; Pathogenic/Likely pathogenic
Select item 146738	GRCh38/hg38 16p12.2(chr16:21827098-22396630)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 155398	GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 153492	GRCh38/hg38 16p12.2(chr16:21919927-22430686)x1	CDR2-DT, LOC105371129 +35 more	Copy number loss	See cases	GUncertain significance
Select item 545196	Single allele	LOC130058635, LOC130058646 +35 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545195	Single allele	LOC130058632, LOC130058633 +35 more	Duplication	Autism	GLikely pathogenic
Select item 545194	NC_000016.10:g.(?_21928119)_(22428075_?)del	CDR2, CDR2-DT +35 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155216	GRCh38/hg38 16p12.2(chr16:21935201-22430686)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 1684662	NC_000016.10:g.21936825_22429665del	CDR2, CDR2-DT +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 152022	GRCh38/hg38 16p12.2(chr16:21940058-22436900)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 57552	GRCh38/hg38 16p12.2(chr16:21940058-22396610)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 144535	GRCh38/hg38 16p12.2(chr16:21948629-22396630)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 1188557	NC_000016.10:g.21952997G>A	LOC130058628, UQCRC2	Single nucleotide variant	not provided	GLikely benign
Select item 1234708	NC_000016.10:g.21953049C>A	LOC130058628, UQCRC2	Single nucleotide variant	not provided	GBenign
Select item 389372	NM_003366.4(UQCRC2):c.-35C>T	UQCRC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385674	NM_003366.4(UQCRC2):c.-32G>T	UQCRC2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 390007	NM_003366.4(UQCRC2):c.-22T>C	UQCRC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 1703469	NM_003366.4(UQCRC2):c.32C>T (p.Ser11Leu)	UQCRC2 (S11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218220	NM_003366.4(UQCRC2):c.34-177C>T	UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236238	NM_003366.4(UQCRC2):c.34-151dup	UQCRC2	Duplication (intron variant)	not provided	GBenign
Select item 1217044	NM_003366.4(UQCRC2):c.34-167C>A	UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198507	NM_003366.4(UQCRC2):c.34-151del	UQCRC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2978357	NM_003366.4(UQCRC2):c.34-20C>T	UQCRC2	Single nucleotide variant (intron 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 3186879	NM_003366.4(UQCRC2):c.52G>A (p.Val18Ile)	UQCRC2 (V18I)	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 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 1508789	NM_003366.4(UQCRC2):c.95C>T (p.Pro32Leu)	UQCRC2 (P32L)	Single nucleotide variant (missense variant)	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 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 1933769	NM_003366.4(UQCRC2):c.117+7C>T	UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389207	NM_003366.4(UQCRC2):c.117+10A>G	UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 560056	Single allele	CDR2, CDR2-DT +34 more	Deletion	not provided	GUncertain significance
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 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 2725306	NM_003366.4(UQCRC2):c.227A>G (p.Asn76Ser)	UQCRC2 (N76S)	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 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 1913181	NM_003366.4(UQCRC2):c.251G>A (p.Arg84His)	PDZD9, UQCRC2 (R84H)	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 2965831	NM_003366.4(UQCRC2):c.265C>T (p.Leu89=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1982468	NM_003366.4(UQCRC2):c.267+9C>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271787	NM_003366.4(UQCRC2):c.267+208A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945580	NM_003366.4(UQCRC2):c.268-15T>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3338703	NM_003366.4(UQCRC2):c.291C>G (p.Phe97Leu)	PDZD9, UQCRC2 (F97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2965791	NM_003366.4(UQCRC2):c.324C>G (p.Gly108=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous 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 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 2528137	NM_003366.4(UQCRC2):c.364A>G (p.Thr122Ala)	PDZD9, UQCRC2 (T122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393231	NM_003366.4(UQCRC2):c.380G>A (p.Arg127Gln)	PDZD9, UQCRC2 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1209490	NM_003366.4(UQCRC2):c.389+76G>A	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 2547903	NM_003366.4(UQCRC2):c.405G>C (p.Glu135Asp)	PDZD9, UQCRC2 (E135D)	Single nucleotide variant (missense variant)	not specified	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 1486882	NM_003366.4(UQCRC2):c.418G>A (p.Val140Ile)	PDZD9, UQCRC2 (V140I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2214167	NM_003366.4(UQCRC2):c.425C>T (p.Thr142Ile)	PDZD9, UQCRC2 (T142I)	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 3331172	NM_003366.4(UQCRC2):c.440G>A (p.Arg147His)	PDZD9, UQCRC2 (R147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2460639	NM_003366.4(UQCRC2):c.443G>A (p.Arg148His)	PDZD9, UQCRC2 (R148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1561694	NM_003366.4(UQCRC2):c.514+9A>G	PDZD9, UQCRC2	Single nucleotide variant (intron 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 738924	NM_003366.4(UQCRC2):c.534T>C (p.His178=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous 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 41880	NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)	UQCRC2, PDZD9 (R183W)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GPathogenic/Likely pathogenic
Select item 380582	NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)	UQCRC2, PDZD9 (R183Q)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +2 more	GBenign
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 387755	NM_003366.4(UQCRC2):c.582C>T (p.Asp194=)	UQCRC2, PDZD9	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 2886523	NM_003366.4(UQCRC2):c.612+7A>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 675590	NM_003366.4(UQCRC2):c.613-96A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign

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