RPH3AL-AS1[gene] - ClinVar

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Items: 34

	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 152858	GRCh38/hg38 17p13.3(chr17:179378-813490)x1	DOC2B, GEMIN4 +35 more	Copy number loss	See cases	GUncertain significance
Select item 154410	GRCh38/hg38 17p13.3(chr17:186959-969740)x1	GEMIN4, GLOD4 +39 more	Copy number loss	See cases	GUncertain significance
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 147497	GRCh38/hg38 17p13.3(chr17:198748-342968)x1	LOC112529901, LOC125177398 +3 more	Copy number loss	See cases	GUncertain significance
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 60093	GRCh38/hg38 17p13.3(chr17:198748-496099)x3	LIAT1, LOC105371430 +11 more	Copy number gain	See cases	GUncertain significance
Select item 57476	GRCh38/hg38 17p13.3(chr17:198748-722235)x3	LIAT1, LOC105371430 +19 more	Copy number gain	See cases	GUncertain significance
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 60094	GRCh38/hg38 17p13.3(chr17:234496-353077)x3	LOC112529901, LOC125177398 +2 more	Copy number gain	See cases	GUncertain significance
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 60095	GRCh38/hg38 17p13.3(chr17:258417-770280)x3	GEMIN4, GLOD4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 58275	GRCh38/hg38 17p13.3(chr17:279388-729021)x1	LIAT1, LOC105371430 +18 more	Copy number loss	See cases	GUncertain significance
Select item 150541	GRCh38/hg38 17p13.3(chr17:279582-722097)x3	LIAT1, LOC105371430 +18 more	Copy number gain	See cases	GLikely benign
Select item 60096	GRCh38/hg38 17p13.3(chr17:279611-848014)x3	GEMIN4, GLOD4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 145843	GRCh38/hg38 17p13.3(chr17:311632-414413)x3	LIAT1, LOC105371430 +7 more	Copy number gain	See cases	GLikely benign
Select item 152577	GRCh38/hg38 17p13.3(chr17:325205-342909)x1	LOC112529901, LOC125177398 +2 more	Copy number loss	See cases	GLikely benign
Select item 3156014	NR_040011.2(RPH3AL-AS1):n.292C>G	RPH3AL, RPH3AL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 34