ClinVar for Gene (Select 109729146) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3575534	NM_172240.3(POC1B):c.8C>T (p.Ser3Leu)	LOC130008357, POC1B +2 more (Q90* +1 more)	Single nucleotide variant (missense variant +3 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575533	NM_172240.3(POC1B):c.15+5G>C	POC1B-GALNT4, LOC130008357 +2 more	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20	GUncertain significance
Select item 3249668	NM_172240.3(POC1B):c.2T>A (p.Met1Lys)	LOC130008357, POC1B +2 more (M1K +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
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 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 1957430	NM_172240.3(POC1B):c.15+16A>G	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 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 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 1272979	NM_172240.3(POC1B):c.15+26_15+27del	POC1B-GALNT4, LOC130008357 +2 more	Deletion (intron variant)	not provided	GBenign
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 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 855489	NM_172240.3(POC1B):c.10G>A (p.Ala4Thr)	POC1B-GALNT4, LOC130008357 +2 more (A4T)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20