POC1B-GALNT4[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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 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 773664	NM_003774.5(GALNT4):c.1546C>A (p.Gln516Lys)	GALNT4, POC1B +1 more (Q344K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
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 2349716	NM_001199781.2(POC1B-GALNT4):c.1244G>A (p.Arg415Gln)	GALNT4, POC1B +1 more (R246Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208386	NM_003774.5(GALNT4):c.1194C>T (p.Asn398=)	GALNT4, POC1B +1 more	Single nucleotide variant (synonymous variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
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 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 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 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 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 717686	NM_003774.5(GALNT4):c.786T>A (p.Asn262Lys)	GALNT4, POC1B +1 more (N262K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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)	POC1B-GALNT4, GALNT4 +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 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 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 3280627	NM_003774.5(GALNT4):c.41T>C (p.Leu14Pro)	GALNT4, POC1B +1 more (L14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1210501	NM_172240.3(POC1B):c.100+48G>A	LOC130008356, POC1B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916762	NM_172240.3(POC1B):c.100+11T>C	LOC130008356, POC1B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1156741	NM_172240.3(POC1B):c.100+9_100+10insG	LOC130008356, POC1B +1 more	Insertion (intron variant)	not provided	GLikely benign
Select item 783037	NM_172240.3(POC1B):c.100+9T>C	LOC130008356, POC1B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1081631	NM_172240.3(POC1B):c.100+7C>G	POC1B, POC1B-GALNT4 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1413606	NM_172240.3(POC1B):c.93G>T (p.Lys31Asn)	LOC130008356, POC1B +1 more (S118I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2013146	NM_172240.3(POC1B):c.89G>A (p.Gly30Asp)	POC1B-GALNT4, LOC130008356 +1 more (A117T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1519783	NM_172240.3(POC1B):c.88G>A (p.Gly30Ser)	LOC130008356, POC1B +1 more (G30S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1471678	NM_172240.3(POC1B):c.87C>G (p.Asn29Lys)	LOC130008356, POC1B +1 more (N29K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1039496	NM_172240.3(POC1B):c.75C>A (p.Asp25Glu)	LOC130008356, POC1B +1 more (D25E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1377243	NM_172240.3(POC1B):c.62T>C (p.Ile21Thr)	LOC130008356, POC1B +1 more (I21T +1 more)	Single nucleotide variant (missense variant +2 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 1369814	NM_172240.3(POC1B):c.52A>G (p.Lys18Glu)	LOC130008356, POC1B +1 more (K18E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 992468	NM_172240.3(POC1B):c.52A>T (p.Lys18Ter)	POC1B-GALNT4, LOC130008356 +1 more (K18*)	Single nucleotide variant (nonsense +3 more)	Cone-rod dystrophy 20	GLikely pathogenic
Select item 1499056	NM_172240.3(POC1B):c.50A>G (p.His17Arg)	LOC130008356, POC1B +1 more (T104A +1 more)	Single nucleotide variant (missense variant +2 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 1949676	NM_172240.3(POC1B):c.46G>A (p.Gly16Ser)	LOC130008356, POC1B +1 more (G16S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 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 1616105	NM_172240.3(POC1B):c.24C>T (p.Pro8=)	POC1B, POC1B-GALNT4 (P95L)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1449068	NM_172240.3(POC1B):c.17A>C (p.Glu6Ala)	POC1B, POC1B-GALNT4 (E6A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1093252	NM_172240.3(POC1B):c.16-8C>T	POC1B, POC1B-GALNT4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 754545	NM_172240.3(POC1B):c.16-9C>T	POC1B, POC1B-GALNT4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1667279	NM_172240.3(POC1B):c.16-11T>C	POC1B, POC1B-GALNT4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1539789	NM_172240.3(POC1B):c.16-20T>C	POC1B, POC1B-GALNT4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1232496	NM_172240.3(POC1B):c.15+90G>A	LOC130008357, POC1B +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1198938	NM_172240.3(POC1B):c.15+27dup	LOC130008357, POC1B +2 more	Duplication (intron variant)	not provided	GLikely benign
Select item 1272979	NM_172240.3(POC1B):c.15+26_15+27del	POC1B-GALNT4, LOC130008357 +2 more	Deletion (intron variant)	not provided	GBenign
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 1941229	NM_172240.3(POC1B):c.15+20G>A	LOC130008357, POC1B +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647407	NM_172240.3(POC1B):c.15+20G>T	LOC130008357, POC1B +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542872	NM_172240.3(POC1B):c.15+18G>A	LOC130008357, POC1B +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957430	NM_172240.3(POC1B):c.15+16A>G	LOC130008357, POC1B +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1347815	NM_172240.3(POC1B):c.15G>T (p.Thr5=)	POC1B-GALNT4, LOC130008357 +2 more (R92L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1359498	NM_172240.3(POC1B):c.14C>A (p.Thr5Lys)	LOC130008357, POC1B +2 more (T5K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1348955	NM_172240.3(POC1B):c.13A>G (p.Thr5Ala)	LOC130008357, POC1B +2 more (T5A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 855489	NM_172240.3(POC1B):c.10G>A (p.Ala4Thr)	LOC130008357, POC1B +2 more (A4T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1054079	NM_172240.3(POC1B):c.4G>A (p.Ala2Thr)	LOC130008357, POC1B +2 more (A2T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2684680	GRCh37/hg19 12q21.33(chr12:89330254-90734509)x3	ATP2B1, DUSP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1514734	NC_000012.11:g.(?_88442961)_(89919672_?)dup	CEP290, DUSP6 +6 more	Duplication	not provided	GUncertain significance
Select item 833258	NC_000012.12:g.(?_88516334)_(89591295_?)del	ATP2B1, DUSP6 +4 more	Deletion	not provided	GPathogenic
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 666459	GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1	ATP2B1, C12orf50 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	ATP2B1, C12orf50 +13 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 95