17317[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148727	GRCh38/hg38 17p13.3(chr17:523549-1311896)x1	ABR, ABR-AS1 +41 more	Copy number loss	See cases	GLikely benign
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 147864	GRCh38/hg38 17p13.3(chr17:759449-999134)x3	GLOD4, LOC101927727 +10 more	Copy number gain	See cases	GUncertain significance
Select item 146265	GRCh38/hg38 17p13.3(chr17:847955-1641601)x3	ABR, ABR-AS1 +43 more	Copy number gain	See cases	GPathogenic
Select item 57358	GRCh38/hg38 17p13.3(chr17:847955-1589181)x3	ABR, ABR-AS1 +42 more	Copy number gain	See cases	GPathogenic
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 151499	GRCh38/hg38 17p13.3(chr17:954820-1009440)x3	ABR, LOC121587569 +2 more	Copy number gain	See cases	GLikely benign
Select item 3050774	NM_013337.4(TIMM22):c.20A>G (p.Asn7Ser)	TIMM22 (N7S)	Single nucleotide variant (missense variant)	TIMM22-related disorder	GLikely benign
Select item 3177535	NM_013337.4(TIMM22):c.32C>T (p.Ser11Leu)	TIMM22 (S11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708129	NM_013337.4(TIMM22):c.45A>G (p.Thr15=)	TIMM22	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 869638	NM_013337.4(TIMM22):c.75C>A (p.Tyr25Ter)	TIMM22	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 43	GPathogenic
Select item 869639	NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)	TIMM22 (V33L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 43 +1 more	GUncertain significance
Select item 3326185	NM_013337.4(TIMM22):c.103G>A (p.Asp35Asn)	TIMM22 (D35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326183	NM_013337.4(TIMM22):c.220G>C (p.Ala74Pro)	TIMM22 (A74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326186	NM_013337.4(TIMM22):c.256G>A (p.Ala86Thr)	TIMM22 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405598	NM_013337.4(TIMM22):c.274G>A (p.Ala92Thr)	TIMM22 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312644	NM_013337.4(TIMM22):c.282C>G (p.Ile94Met)	TIMM22 (I94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647180	NM_013337.4(TIMM22):c.283G>A (p.Asp95Asn)	TIMM22 (D95N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2245335	NM_013337.4(TIMM22):c.319C>T (p.Arg107Cys)	TIMM22 (R107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326184	NM_013337.4(TIMM22):c.326C>T (p.Pro109Leu)	TIMM22 (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473644	NM_013337.4(TIMM22):c.388G>A (p.Ala130Thr)	TIMM22 (A130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319702	NM_013337.4(TIMM22):c.433T>G (p.Ser145Ala)	TIMM22 (S145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342211	NM_013337.4(TIMM22):c.508+45A>G	TIMM22	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 43 +1 more	GBenign
Select item 2518815	NM_013337.4(TIMM22):c.520G>C (p.Ala174Pro)	TIMM22 (A174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177536	NM_013337.4(TIMM22):c.580C>T (p.Arg194Trp)	TIMM22 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243204	NC_000017.10:g.(?_882539)_(1565467_?)del	ABR, BHLHA9 +12 more	Deletion	not provided	GPathogenic
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2426763	NC_000017.10:g.(?_882539)_(1387567_?)del	ABR, BHLHA9 +6 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1703618	GRCh37/hg19 17p13.3(chr17:525-1464281)	ABR, BHLHA9 +17 more	Copy number loss	Miller Dieker syndrome	GPathogenic
Select item 1526558	GRCh37/hg19 17p13.3(chr17:764104-1193070)	ABR, BHLHA9 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance
Select item 1340285	GRCh37/hg19 17p13.3(chr17:667244-1139698)x1	ABR, GLOD4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic
Select item 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 984984	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	GEMIN4, ABR +10 more	Copy number loss	Robinow syndrome, autosomal recessive 2	GLikely pathogenic
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 980148	GRCh37/hg19 17p13.3(chr17:111222-964297)x3	ABR, GEMIN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980147	GRCh37/hg19 17p13.3(chr17:525-1450120)x1	ABR, BHLHA9 +17 more	Copy number loss	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815879	GRCh37/hg19 17p13.3(chr17:699175-981413)x1	ABR, TIMM22 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815876	GRCh37/hg19 17p13.3(chr17:279703-1154012)x3	ABR, GEMIN4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815875	GRCh37/hg19 17p13.3(chr17:525-969410)x3	ABR, DOC2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 808339	GRCh37/hg19 17p13.3(chr17:882559-1401416)x1	TIMM22, TRARG1 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 689284	GRCh37/hg19 17p13.3(chr17:843699-927464)x3	ABR, NXN +1 more	Copy number gain	not provided	GUncertain significance
Select item 688114	GRCh37/hg19 17p13.3(chr17:788763-950495)x3	ABR, NXN +1 more	Copy number gain	not provided	GUncertain significance
Select item 686722	GRCh37/hg19 17p13.3(chr17:779534-969710)x3	ABR, NXN +1 more	Copy number gain	not provided	GUncertain significance
Select item 686486	GRCh37/hg19 17p13.3(chr17:55804-1310807)x1	NXN, RFLNB +12 more	Copy number loss	not provided	GUncertain significance
Select item 685182	GRCh37/hg19 17p13.3(chr17:525-1225474)x1	ABR, BHLHA9 +12 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564383	GRCh37/hg19 17p13.3(chr17:751918-1061418)x3	ABR, TIMM22 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564382	GRCh37/hg19 17p13.3(chr17:683545-1140912)x1	MRM3, GLOD4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564379	GRCh37/hg19 17p13.3(chr17:141235-1227927)x3	ABR, BHLHA9 +11 more	Copy number gain	not provided	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 564376	GRCh37/hg19 17p13.3(chr17:525-981413)x1	ABR, DOC2B +10 more	Copy number loss	not provided	GUncertain significance
Select item 560090	Single allele	ABR, BHLHA9 +2 more	Duplication	not provided	GUncertain significance
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	ABR, BHLHA9 +43 more	Copy number loss	See cases	GPathogenic
Select item 443246	GRCh37/hg19 17p13.3(chr17:808735-1850373)x3	ABR, BHLHA9 +20 more	Copy number gain	See cases	GLikely pathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442132	GRCh37/hg19 17p13.3(chr17:530146-901949)x1	GEMIN4, GLOD4 +5 more	Copy number loss	See cases	GUncertain significance
Select item 442062	GRCh37/hg19 17p13.3(chr17:10622-1511353)x1	ABR, BHLHA9 +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic

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