LOC130008356[gene] - ClinVar

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Items: 23

	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 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

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Items: 23