RPH3AL[gene] - 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 221758	GRCh38/hg38 17p13.3(chr17:162094-264878)x1	DOC2B, LINC02091 +2 more	Copy number loss	Premature ovarian failure	GUncertain significance
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 3156013	NM_006987.4(RPH3AL):c.916G>T (p.Ala306Ser)	RPH3AL (A277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371242	NM_006987.4(RPH3AL):c.904G>A (p.Ala302Thr)	RPH3AL (A273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156012	NM_006987.4(RPH3AL):c.875C>T (p.Pro292Leu)	RPH3AL (P292L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647153	NM_006987.4(RPH3AL):c.855C>T (p.Pro285=)	RPH3AL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344834	NM_006987.4(RPH3AL):c.850C>T (p.Arg284Cys)	RPH3AL (R284C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156011	NM_006987.4(RPH3AL):c.847C>G (p.Pro283Ala)	RPH3AL (P283A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156010	NM_006987.4(RPH3AL):c.836C>T (p.Pro279Leu)	RPH3AL (P250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311424	NM_006987.4(RPH3AL):c.820A>T (p.Thr274Ser)	RPH3AL (T245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407845	NM_006987.4(RPH3AL):c.818G>T (p.Gly273Val)	RPH3AL (G244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521819	NM_006987.4(RPH3AL):c.809G>C (p.Gly270Ala)	RPH3AL (G241A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536080	NM_006987.4(RPH3AL):c.772G>A (p.Gly258Ser)	LOC132090892, RPH3AL (G258S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359444	NM_006987.4(RPH3AL):c.767C>T (p.Pro256Leu)	LOC132090892, RPH3AL (P227L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250241	NM_006987.4(RPH3AL):c.743C>T (p.Ala248Val)	LOC132090892, RPH3AL (A219V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460747	NM_006987.4(RPH3AL):c.697C>T (p.Arg233Trp)	RPH3AL (R204W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607963	NM_006987.4(RPH3AL):c.691A>G (p.Arg231Gly)	RPH3AL (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316003	NM_006987.4(RPH3AL):c.688G>T (p.Val230Phe)	RPH3AL (V230F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315168	NM_006987.4(RPH3AL):c.685G>A (p.Gly229Arg)	RPH3AL (G200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156008	NM_006987.4(RPH3AL):c.656C>G (p.Ser219Cys)	RPH3AL (S190C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279717	NM_006987.4(RPH3AL):c.629G>A (p.Ser210Asn)	RPH3AL (S181N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 151509	GRCh38/hg38 17p13.3(chr17:246768-311632)x3	RPH3AL	Copy number gain	See cases	GBenign
Select item 3156007	NM_006987.4(RPH3AL):c.586C>T (p.Arg196Cys)	RPH3AL (R196C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214194	NM_006987.4(RPH3AL):c.551C>T (p.Pro184Leu)	RPH3AL (P184L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370007	NM_006987.4(RPH3AL):c.524C>T (p.Pro175Leu)	RPH3AL (P175L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307853	NM_006987.4(RPH3AL):c.512G>A (p.Arg171Gln)	RPH3AL (R142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204715	NM_006987.4(RPH3AL):c.503C>T (p.Thr168Ile)	RPH3AL (T139I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461062	NM_006987.4(RPH3AL):c.475C>T (p.Leu159Phe)	RPH3AL (L130F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469742	NM_006987.4(RPH3AL):c.455G>A (p.Gly152Glu)	RPH3AL (G152E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268180	NM_006987.4(RPH3AL):c.452C>G (p.Ser151Trp)	RPH3AL (S151W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 60095	GRCh38/hg38 17p13.3(chr17:258417-770280)x3	GEMIN4, GLOD4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 144241	GRCh38/hg38 17p13.3(chr17:266752-291920)x1	RPH3AL	Copy number loss	See cases	GBenign
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 3156005	NM_006987.4(RPH3AL):c.289C>T (p.Leu97Phe)	RPH3AL (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315163	NM_006987.4(RPH3AL):c.254G>A (p.Arg85Gln)	RPH3AL (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315165	NM_006987.4(RPH3AL):c.149C>T (p.Ala50Val)	RPH3AL (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315164	NM_006987.4(RPH3AL):c.125G>T (p.Arg42Met)	RPH3AL (R42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152577	GRCh38/hg38 17p13.3(chr17:325205-342909)x1	LOC112529901, LOC125177398 +2 more	Copy number loss	See cases	GLikely benign
Select item 3315166	NM_006987.4(RPH3AL):c.71G>A (p.Arg24Gln)	RPH3AL (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598107	NM_006987.4(RPH3AL):c.55C>T (p.Arg19Trp)	RPH3AL (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345853	NM_006987.4(RPH3AL):c.25G>A (p.Gly9Arg)	RPH3AL (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622138	NM_006987.4(RPH3AL):c.19G>A (p.Gly7Ser)	RPH3AL (G7S)	Single nucleotide variant (missense variant)	not specified	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
Select item 147604	GRCh38/hg38 17p13.3(chr17:333871-880361)x3	LOC130059863, LOC130059864 +33 more	Copy number gain	See cases	GPathogenic
Select item 151579	GRCh38/hg38 17p13.3(chr17:342909-399401)x3	LOC126862454, RPH3AL	Copy number gain	See cases	GBenign
Select item 3063530	GRCh37/hg19 17p13.3(chr17:124754-643426)x1	LIAT1, RFLNB +3 more	Copy number loss	not specified	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 3063481	GRCh37/hg19 17p13.3(chr17:141345-699175)x1	GEMIN4, GLOD4 +6 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 2684826	GRCh37/hg19 17p13.3(chr17:38928-509901)x3	LIAT1, RFLNB +2 more	Copy number gain	not provided	GUncertain significance
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 2571006	GRCh37/hg19 17p13.3(chr17:65445-695309)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2446822	GRCh37/hg19 17p13.3(chr17:1-450099)	RFLNB, DOC2B +3 more	Copy number gain	not specified	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 1526557	GRCh37/hg19 17p13.3(chr17:124894-745738)	GEMIN4, GLOD4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1340071	GRCh37/hg19 17p13.3(chr17:526-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	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 980152	GRCh37/hg19 17p13.3(chr17:124892-745738)x3	GEMIN4, GLOD4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980149	GRCh37/hg19 17p13.3(chr17:525-833922)x4	DOC2B, GEMIN4 +8 more	Copy number gain	not provided	GUncertain significance
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 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 688559	GRCh37/hg19 17p13.3(chr17:525-447663)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687731	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 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

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