POC1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 151044	GRCh38/hg38 12q21.33(chr12:89366714-89530151)x1	GALNT4, LOC105369889 +7 more	Copy number loss	See cases	GLikely benign
Select item 733918	NM_172240.3(POC1B):c.1433G>T (p.Ser478Ile)	LOC105369889, POC1B (S478I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1503729	NM_172240.3(POC1B):c.1431A>C (p.Lys477Asn)	LOC105369889, POC1B (K435N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371843	NM_172240.3(POC1B):c.1425A>C (p.Gln475His)	LOC105369889, POC1B (Q433H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1637793	NM_172240.3(POC1B):c.1419T>C (p.Ala473=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1998489	NM_172240.3(POC1B):c.1414A>C (p.Ser472Arg)	LOC105369889, POC1B (S430R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1448138	NM_172240.3(POC1B):c.1409T>C (p.Leu470Pro)	LOC105369889, POC1B (L470P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026114	NM_172240.3(POC1B):c.1398T>C (p.Asn466=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2227225	NM_172240.3(POC1B):c.1366A>T (p.Thr456Ser)	LOC105369889, POC1B (T414S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2692917	NM_172240.3(POC1B):c.1365G>A (p.Leu455=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1494806	NM_172240.3(POC1B):c.1358T>A (p.Leu453Gln)	LOC105369889, POC1B (L411Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1431932	NM_172240.3(POC1B):c.1355G>A (p.Arg452Gln)	LOC105369889, POC1B (R410Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1561206	NM_172240.3(POC1B):c.1350G>A (p.Glu450=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914729	NM_172240.3(POC1B):c.1333-7T>C	LOC105369889, POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551676	NM_172240.3(POC1B):c.1332+20C>T	LOC105369889, POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920487	NM_172240.3(POC1B):c.1332+13C>G	LOC105369889, POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172722	NM_172240.3(POC1B):c.1332+5G>A	LOC105369889, POC1B	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20 +1 more	GConflicting classifications of pathogenicity
Select item 987339	NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs)	LOC105369889, POC1B (T403fs +1 more)	Duplication (frameshift variant +1 more)	Cone-rod dystrophy 20 +1 more	GPathogenic/Likely pathogenic
Select item 444303	NM_172240.3(POC1B):c.1331A>G (p.Gln444Arg)	LOC105369889, POC1B (Q444R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 444304	NM_172240.3(POC1B):c.1316T>C (p.Leu439Pro)	LOC105369889, POC1B (L439P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1408249	NM_172240.3(POC1B):c.1312C>T (p.Gln438Ter)	LOC105369889, POC1B (Q396* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1997013	NM_172240.3(POC1B):c.1300C>G (p.His434Asp)	LOC105369889, POC1B (H392D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1468791	NM_172240.3(POC1B):c.1295T>A (p.Leu432Ter)	LOC105369889, POC1B (L390* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1511198	NM_172240.3(POC1B):c.1290T>G (p.Asp430Glu)	LOC105369889, POC1B (D388E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1051551	NM_172240.3(POC1B):c.1285A>G (p.Thr429Ala)	LOC105369889, POC1B (T387A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1500764	NM_172240.3(POC1B):c.1279G>T (p.Ala427Ser)	LOC105369889, POC1B (A385S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1450151	NM_172240.3(POC1B):c.1279G>A (p.Ala427Thr)	LOC105369889, POC1B (A427T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984174	NM_172240.3(POC1B):c.1278C>A (p.Leu426=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1091902	NM_172240.3(POC1B):c.1278C>T (p.Leu426=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2120771	NM_172240.3(POC1B):c.1274C>T (p.Pro425Leu)	LOC105369889, POC1B (P383L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1902938	NM_172240.3(POC1B):c.1274C>G (p.Pro425Arg)	LOC105369889, POC1B (P383R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345643	NM_172240.3(POC1B):c.1271T>C (p.Ile424Thr)	LOC105369889, POC1B (I424T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1106634	NM_172240.3(POC1B):c.1259G>C (p.Ser420Thr)	LOC105369889, POC1B (S378T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2087706	NM_172240.3(POC1B):c.1245C>T (p.Asp415=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2054757	NM_172240.3(POC1B):c.1243G>A (p.Asp415Asn)	LOC105369889, POC1B (D415N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 972427	NM_172240.3(POC1B):c.1241G>T (p.Ser414Ile)	LOC105369889, POC1B (S414I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1009822	NM_172240.3(POC1B):c.1239G>A (p.Met413Ile)	LOC105369889, POC1B (M371I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1474755	NM_172240.3(POC1B):c.1238T>C (p.Met413Thr)	LOC105369889, POC1B (M413T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2089306	NM_172240.3(POC1B):c.1231_1232del (p.Glu411fs)	LOC105369889, POC1B (E411fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 755902	NM_172240.3(POC1B):c.1218G>A (p.Thr406=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1014152	NM_172240.3(POC1B):c.1217C>T (p.Thr406Met)	LOC105369889, POC1B (T364M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052229	NM_172240.3(POC1B):c.1216A>T (p.Thr406Ser)	POC1B, LOC105369889 (T364S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 935892	NM_172240.3(POC1B):c.1202G>A (p.Cys401Tyr)	LOC105369889, POC1B (C359Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1130326	NM_172240.3(POC1B):c.1200A>G (p.Glu400=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2296535	NM_172240.3(POC1B):c.1199A>G (p.Glu400Gly)	LOC105369889, POC1B (E400G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1902939	NM_172240.3(POC1B):c.1173C>T (p.Phe391=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2200611	NM_172240.3(POC1B):c.1156G>A (p.Glu386Lys)	LOC105369889, POC1B (E386K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1386006	NM_172240.3(POC1B):c.1141C>T (p.Pro381Ser)	LOC105369889, POC1B (P381S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128406	NM_172240.3(POC1B):c.1133G>T (p.Arg378Met)	LOC105369889, POC1B (R378M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135630	NM_172240.3(POC1B):c.1129G>A (p.Gly377Ser)	LOC105369889, POC1B (G335S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2036980	NM_172240.3(POC1B):c.1126A>C (p.Ser376Arg)	LOC105369889, POC1B (S376R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1114943	NM_172240.3(POC1B):c.1119A>G (p.Thr373=)	LOC105369889, POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1410763	NM_172240.3(POC1B):c.1114A>G (p.Thr372Ala)	LOC105369889, POC1B (T372A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1165735	NM_172240.3(POC1B):c.1114-10G>A	LOC105369889, POC1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1327663	NM_172240.3(POC1B):c.1113+25_1113+27dup	POC1B	Duplication (intron variant)	not provided	GLikely benign
Select item 1244322	NM_172240.3(POC1B):c.1113+11_1113+12dup	POC1B	Duplication (intron variant)	not provided	GBenign
Select item 1232609	NM_172240.3(POC1B):c.1113+11dup	POC1B	Duplication (intron variant)	not provided	GBenign
Select item 1242447	NM_172240.3(POC1B):c.1113+27del	POC1B	Deletion (intron variant)	not provided	GBenign
Select item 1196807	NM_172240.3(POC1B):c.1113+26_1113+27del	POC1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1913691	NM_172240.3(POC1B):c.1113+17_1113+18insG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1648208	NM_172240.3(POC1B):c.1113+17T>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1151315	NM_172240.3(POC1B):c.1113+16_1113+17insTG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1095250	NM_172240.3(POC1B):c.1113+16_1113+17insG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1653679	NM_172240.3(POC1B):c.1113+16T>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585137	NM_172240.3(POC1B):c.1113+15_1113+16insTG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1085352	NM_172240.3(POC1B):c.1113+15_1113+16insG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1900185	NM_172240.3(POC1B):c.1113+15T>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1079496	NM_172240.3(POC1B):c.1113+14_1113+15insG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1639201	NM_172240.3(POC1B):c.1113+13_1113+14insG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1603022	NM_172240.3(POC1B):c.1113+14T>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567909	NM_172240.3(POC1B):c.1113+13_1113+14insTTG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1531438	NM_172240.3(POC1B):c.1113+13_1113+14insTG	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 2968623	NM_172240.3(POC1B):c.1113+10_1113+11insC	POC1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1529734	NM_172240.3(POC1B):c.1113+11T>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777235	NM_172240.3(POC1B):c.1113+10G>T	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677224	NM_172240.3(POC1B):c.1113+7C>T	POC1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2775925	NM_172240.3(POC1B):c.1107T>C (p.Ser369=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 764560	NM_172240.3(POC1B):c.1092C>A (p.Ile364=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1103973	NM_172240.3(POC1B):c.1085T>C (p.Met362Thr)	POC1B (M320T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1915007	NM_172240.3(POC1B):c.1083dup (p.Met362fs)	POC1B (M320fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1520265	NM_172240.3(POC1B):c.1084A>C (p.Met362Leu)	POC1B (M362L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1576634	NM_172240.3(POC1B):c.1083T>A (p.Val361=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1397795	NM_172240.3(POC1B):c.1079_1080del (p.Pro360fs)	POC1B (P318fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1409216	NM_172240.3(POC1B):c.1078C>T (p.Pro360Ser)	POC1B (P360S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1392806	NM_172240.3(POC1B):c.1070C>T (p.Ser357Phe)	POC1B (S357F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1655590	NM_172240.3(POC1B):c.1068C>T (p.Ile356=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1380680	NM_172240.3(POC1B):c.1066A>T (p.Ile356Phe)	POC1B (I356F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1455684	NM_172240.3(POC1B):c.1061del (p.Leu354fs)	POC1B (L312fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1403111	NM_172240.3(POC1B):c.1057G>A (p.Asp353Asn)	POC1B (D311N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2151521	NM_172240.3(POC1B):c.1054A>T (p.Ile352Phe)	POC1B (I352F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2137396	NM_172240.3(POC1B):c.1033-3C>T	POC1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2110859	NM_172240.3(POC1B):c.1033-14dup	POC1B	Duplication (intron variant)	not provided	GUncertain significance
Select item 1666937	NM_172240.3(POC1B):c.1033-15dup	POC1B	Duplication (intron variant)	not provided	GLikely benign
Select item 1106201	NM_172240.3(POC1B):c.1033-14A>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169004	NM_172240.3(POC1B):c.1033-15del	POC1B	Deletion (intron variant)	not provided	GBenign
Select item 2030200	NM_172240.3(POC1B):c.1032+12G>C	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 957075	NM_172240.3(POC1B):c.1032+4A>G	POC1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1004015	NM_172240.3(POC1B):c.1032+3G>A	POC1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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