LOC111365204[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	COQ3, ASCC3 +53 more	Copy number loss	See cases	GPathogenic
Select item 154571	GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1	CCNC, COQ3 +38 more	Copy number loss	See cases	GUncertain significance
Select item 560106	Single allele	CCNC, COQ3 +28 more	Deletion	not provided	GUncertain significance
Select item 446239	NC_000006.12:g.99593030G>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic
Select item 812377	NC_000006.12:g.99593098A>C	LOC111365204, PRDM13	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 446240	NC_000006.12:g.99593111G>C	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic
Select item 446241	NC_000006.12:g.99593164C>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GUncertain significance
Select item 625874	NC_000006.12:g.99598907A>C	LOC111365204	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic
Select item 625875	NC_000006.12:g.99598928T>C	LOC111365204	Single nucleotide variant	Progressive bifocal chorioretinal atrophy	GPathogenic