ClinVar for Gene (Select 282809) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098196	NM_003774.5(GALNT4):c.985A>G (p.Thr329Ala)	GALNT4, POC1B +1 more (T326A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098195	NM_003774.5(GALNT4):c.824T>C (p.Ile275Thr)	GALNT4, POC1B +1 more (I272T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098194	NM_003774.5(GALNT4):c.767T>C (p.Ile256Thr)	GALNT4, POC1B +1 more (I256T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098193	NM_003774.5(GALNT4):c.718C>G (p.Leu240Val)	GALNT4, POC1B +1 more (L237V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098192	NM_003774.5(GALNT4):c.664G>A (p.Val222Ile)	GALNT4, POC1B +1 more (V222I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098191	NM_003774.5(GALNT4):c.625A>G (p.Arg209Gly)	GALNT4, POC1B +1 more (R206G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098190	NM_003774.5(GALNT4):c.617G>A (p.Gly206Glu)	GALNT4, POC1B +1 more (G206E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098189	NM_003774.5(GALNT4):c.586G>C (p.Val196Leu)	GALNT4, POC1B +1 more (V193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098188	NM_003774.5(GALNT4):c.529A>T (p.Ser177Cys)	GALNT4, POC1B +1 more (S174C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098187	NM_003774.5(GALNT4):c.435C>G (p.Asn145Lys)	GALNT4, POC1B +1 more (N142K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098186	NM_003774.5(GALNT4):c.422T>C (p.Ile141Thr)	GALNT4, POC1B +1 more (I138T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098185	NM_003774.5(GALNT4):c.380A>G (p.Gln127Arg)	GALNT4, POC1B +1 more (Q127R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098184	NM_003774.5(GALNT4):c.359G>C (p.Arg120Thr)	GALNT4, POC1B +1 more (R117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098183	NM_003774.5(GALNT4):c.353A>T (p.Asp118Val)	GALNT4, POC1B +1 more (D118V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098182	NM_003774.5(GALNT4):c.296G>T (p.Arg99Ile)	GALNT4, POC1B +1 more (R96I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098181	NM_003774.5(GALNT4):c.1697A>G (p.Asp566Gly)	GALNT4, POC1B +1 more (D394G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098180	NM_003774.5(GALNT4):c.1672C>T (p.Pro558Ser)	GALNT4, POC1B +1 more (P555S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098179	NM_003774.5(GALNT4):c.1670G>A (p.Arg557Gln)	GALNT4, POC1B +1 more (R385Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098178	NM_003774.5(GALNT4):c.1655G>A (p.Arg552Gln)	GALNT4, POC1B +1 more (R380Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098177	NM_003774.5(GALNT4):c.1643T>C (p.Leu548Pro)	GALNT4, POC1B +1 more (L376P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098176	NM_003774.5(GALNT4):c.1432C>T (p.His478Tyr)	GALNT4, POC1B +1 more (H306Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098175	NM_003774.5(GALNT4):c.1349G>T (p.Ser450Ile)	GALNT4, POC1B +1 more (S447I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098174	NM_003774.5(GALNT4):c.1348A>G (p.Ser450Gly)	GALNT4, POC1B +1 more (S278G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098173	NM_003774.5(GALNT4):c.1344T>G (p.Ile448Met)	GALNT4, POC1B +1 more (I445M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098172	NM_003774.5(GALNT4):c.1332G>T (p.Trp444Cys)	GALNT4, POC1B +1 more (W272C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098171	NM_003774.5(GALNT4):c.1300A>G (p.Asn434Asp)	GALNT4, POC1B +1 more (N262D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098170	NM_003774.5(GALNT4):c.126G>T (p.Arg42Ser)	GALNT4, POC1B +1 more (R39S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098169	NM_003774.5(GALNT4):c.124A>G (p.Arg42Gly)	GALNT4, POC1B +1 more (R39G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098168	NM_003774.5(GALNT4):c.122C>T (p.Ala41Val)	GALNT4, POC1B +1 more (A41V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098167	NM_003774.5(GALNT4):c.118C>A (p.Arg40Ser)	GALNT4, POC1B +1 more (R37S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098166	NM_003774.5(GALNT4):c.1100G>A (p.Arg367Gln)	GALNT4, POC1B +1 more (R195Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098165	NM_003774.5(GALNT4):c.1097A>G (p.Lys366Arg)	GALNT4, POC1B +1 more (K194R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3055128	NM_172240.3(POC1B):c.63C>T (p.Ile21=)	LOC130008356, POC1B +1 more (S108L)	Single nucleotide variant (synonymous variant +3 more)	POC1B-related disorder	GLikely benign
Select item 2998506	NM_172240.3(POC1B):c.880-5C>A	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991121	NM_172240.3(POC1B):c.453-14CTT[2]	POC1B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2970815	NM_172240.3(POC1B):c.15+20G>C	LOC130008357, POC1B +2 more	Single nucleotide variant (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 2869576	NM_172240.3(POC1B):c.879+20C>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826396	NM_172240.3(POC1B):c.273-15A>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822203	NM_172240.3(POC1B):c.37del (p.Tyr13fs)	LOC130008356, POC1B +1 more (Y13fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2806622	NM_172240.3(POC1B):c.150T>C (p.His50=)	POC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796810	NM_172240.3(POC1B):c.260G>A (p.Trp87Ter)	POC1B (W87* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2776415	NM_172240.3(POC1B):c.434A>C (p.His145Pro)	POC1B (H15P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2776222	NM_172240.3(POC1B):c.886T>C (p.Leu296=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2775927	NM_172240.3(POC1B):c.966A>G (p.Pro322=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2709712	NM_172240.3(POC1B):c.811-5_816del	POC1B	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2705606	NM_172240.3(POC1B):c.879+8A>C	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693225	NM_172240.3(POC1B):c.452+19A>C	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2684680	GRCh37/hg19 12q21.33(chr12:89330254-90734509)x3	ATP2B1, DUSP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2643213	NM_003774.5(GALNT4):c.978G>A (p.Thr326=)	GALNT4, POC1B +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612219	NM_003774.5(GALNT4):c.19T>C (p.Trp7Arg)	GALNT4, LOC130008355 +2 more (W7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570842	NM_172240.3(POC1B):c.582T>C (p.Phe194=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550818	NM_003774.5(GALNT4):c.1184A>G (p.Tyr395Cys)	GALNT4, POC1B +1 more (Y223C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523948	NM_172240.3(POC1B):c.565G>C (p.Ala189Pro)	POC1B (A189P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513197	NM_003774.5(GALNT4):c.106G>T (p.Ala36Ser)	GALNT4, POC1B +1 more (A36S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473380	NM_003774.5(GALNT4):c.50T>G (p.Phe17Cys)	GALNT4, POC1B +1 more (F17C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427491	NC_000012.11:g.(?_89814930)_(89815054_?)del	POC1B	Deletion	not provided	GLikely pathogenic
Select item 2419007	NM_172240.3(POC1B):c.356C>T (p.Thr119Ile)	POC1B (T119I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2373631	NM_172240.3(POC1B):c.725A>G (p.Tyr242Cys)	POC1B (Y242C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349716	NM_003774.5(GALNT4):c.1253G>A (p.Arg418Gln)	GALNT4, POC1B +1 more (R246Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2285027	NM_172240.3(POC1B):c.571T>G (p.Phe191Val)	POC1B (F149V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273160	NM_172240.3(POC1B):c.989C>G (p.Pro330Arg)	POC1B (P330R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2189844	NM_172240.3(POC1B):c.763C>T (p.Leu255=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2149878	NM_172240.3(POC1B):c.111T>G (p.Ser37=)	POC1B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2137396	NM_172240.3(POC1B):c.1033-3C>T	POC1B	Single nucleotide variant (intron variant)	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 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 2127931	NM_172240.3(POC1B):c.53A>G (p.Lys18Arg)	LOC130008356, POC1B +1 more (K18R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2120922	NM_172240.3(POC1B):c.637T>C (p.Trp213Arg)	POC1B (W171R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2113104	NM_172240.3(POC1B):c.49C>T (p.His17Tyr)	LOC130008356, POC1B +1 more (H17Y)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2110859	NM_172240.3(POC1B):c.1033-14dup	POC1B	Duplication (intron variant)	not provided	GUncertain significance
Select item 2109466	NM_172240.3(POC1B):c.320G>T (p.Ser107Ile)	POC1B (S65I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097073	NM_172240.3(POC1B):c.34C>G (p.Arg12Gly)	LOC130008356, POC1B +1 more (R12G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2093153	NM_172240.3(POC1B):c.721A>G (p.Asn241Asp)	POC1B (N199D +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 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 2083869	NM_172240.3(POC1B):c.137A>G (p.Asn46Ser)	POC1B (N46S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083189	NM_172240.3(POC1B):c.15+2T>A	LOC130008357, POC1B +2 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2082469	NM_172240.3(POC1B):c.110C>T (p.Ser37Phe)	POC1B (S37F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2077186	NM_172240.3(POC1B):c.670T>G (p.Tyr224Asp)	POC1B (Y182D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074621	NM_172240.3(POC1B):c.488G>A (p.Ser163Asn)	POC1B (S121N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067362	NM_172240.3(POC1B):c.272+13A>G	POC1B	Single nucleotide variant (intron variant)	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 2046840	NM_172240.3(POC1B):c.561-2A>G	POC1B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2030716	NM_172240.3(POC1B):c.819C>A (p.Val273=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2030200	NM_172240.3(POC1B):c.1032+12G>C	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2025073	NM_172240.3(POC1B):c.879+18C>T	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019439	NM_172240.3(POC1B):c.880-4A>T	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017651	NM_172240.3(POC1B):c.677-9A>G	POC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015915	NM_172240.3(POC1B):c.912G>A (p.Leu304=)	POC1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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