ClinVar for Gene (Select 9501) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3315166	NM_006987.4(RPH3AL):c.71G>A (p.Arg24Gln)	RPH3AL (R24Q)	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 3315163	NM_006987.4(RPH3AL):c.254G>A (p.Arg85Gln)	RPH3AL (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 3156005	NM_006987.4(RPH3AL):c.289C>T (p.Leu97Phe)	RPH3AL (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2647153	NM_006987.4(RPH3AL):c.855C>T (p.Pro285=)	RPH3AL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2598107	NM_006987.4(RPH3AL):c.55C>T (p.Arg19Trp)	RPH3AL (R19W)	Single nucleotide variant (missense variant)	not specified	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 2571006	GRCh37/hg19 17p13.3(chr17:65445-695309)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not provided	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 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 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 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 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 2446822	GRCh37/hg19 17p13.3(chr17:1-450099)	RFLNB, DOC2B +3 more	Copy number gain	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 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 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 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 2345853	NM_006987.4(RPH3AL):c.25G>A (p.Gly9Arg)	RPH3AL (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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
Select item 686448	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685923	GRCh37/hg19 17p13.3(chr17:114507-274456)x1	C17orf97, RPH3AL	Copy number loss	not provided	GUncertain significance
Select item 685799	GRCh37/hg19 17p13.3(chr17:39027-843700)x3	GEMIN4, GLOD4 +7 more	Copy number gain	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 635883	Single allele	GEMIN4, GLOD4 +6 more	Deletion	Growth abnormality	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 564380	GRCh37/hg19 17p13.3(chr17:141345-509901)x1	LIAT1, RFLNB +2 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 564378	GRCh37/hg19 17p13.3(chr17:15498-699175)x1	DOC2B, GEMIN4 +7 more	Copy number loss	not provided	GUncertain significance
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 564375	GRCh37/hg19 17p13.3(chr17:525-880983)x1	DOC2B, GEMIN4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 564374	GRCh37/hg19 17p13.3(chr17:525-447663)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564373	GRCh37/hg19 17p13.3(chr17:525-200742)x1	RPH3AL, DOC2B	Copy number loss	not provided	GLikely benign
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 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 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 442314	GRCh37/hg19 17p13.3(chr17:129114-745738)x3	GEMIN4, GLOD4 +7 more	Copy number gain	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
Select item 441880	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395344	GRCh37/hg19 17p13.3(chr17:148092-264204)x3	LIAT1, RPH3AL	Copy number gain	See cases	GLikely benign
Select item 395330	GRCh37/hg19 17p13.3(chr17:6160-436910)x3	DOC2B, LIAT1 +3 more	Copy number gain	See cases	GLikely benign
Select item 395042	GRCh37/hg19 17p13.3(chr17:6160-919381)x1	ABR, DOC2B +10 more	Copy number loss	See cases	GUncertain significance
Select item 394518	GRCh37/hg19 17p13.3(chr17:48858-643699)x1	LIAT1, RFLNB +3 more	Copy number loss	See cases	GUncertain significance
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	NXN, OVCA2 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	ABR, ASPA +55 more	Copy number loss	See cases	GPathogenic
Select item 394107	GRCh37/hg19 17p13.3(chr17:6160-264204)x3	DOC2B, LIAT1 +1 more	Copy number gain	See cases	GBenign
Select item 394025	GRCh37/hg19 17p13.3(chr17:6160-1114083)x1	RPH3AL, NXN +10 more	Copy number loss	See cases	GUncertain significance
Select item 393943	GRCh37/hg19 17p13.3(chr17:199921-264204)x3	RPH3AL, LIAT1	Copy number gain	See cases	GBenign/Likely benign
Select item 393889	GRCh37/hg19 17p13.3(chr17:6160-2002365)	ABR, BHLHA9 +35 more	Copy number gain	See cases	GPathogenic
Select item 253806	GRCh37/hg19 17p13.3(chr17:48858-902021)x1	GEMIN4, GLOD4 +8 more	Copy number loss	See cases	GUncertain significance

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