CIMIP3[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 356683	NM_000409.5(GUCA1ANB-GUCA1A):c.-536T>C	CIMIP3, GUCA1A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Cone dystrophy 3	GUncertain significance
Select item 906414	NM_000409.5(GUCA1ANB-GUCA1A):c.-473C>T	CIMIP3, GUCA1A +1 more	Single nucleotide variant (synonymous variant +2 more)	Cone dystrophy 3	GUncertain significance
Select item 356684	NM_000409.5(GUCA1ANB-GUCA1A):c.-472A>C	CIMIP3, GUCA1A +1 more (M14L)	Single nucleotide variant (missense variant +2 more)	Cone dystrophy 3	GBenign
Select item 906415	NM_000409.5(GUCA1ANB-GUCA1A):c.-466G>A	GUCA1A, GUCA1ANB-GUCA1A +1 more (G16S)	Single nucleotide variant (missense variant +2 more)	Cone dystrophy 3 +1 more	GUncertain significance
Select item 356685	NM_000409.5(GUCA1ANB-GUCA1A):c.-465G>T	CIMIP3, GUCA1A +1 more (G16V)	Single nucleotide variant (missense variant +2 more)	Cone dystrophy 3	GUncertain significance
Select item 356686	NM_000409.5(GUCA1ANB-GUCA1A):c.-457-8C>T	CIMIP3, GUCA1A +1 more	Single nucleotide variant (intron variant)	Cone dystrophy 3	GBenign
Select item 907415	NM_000409.5(GUCA1ANB-GUCA1A):c.-413G>A	CIMIP3, GUCA1A +1 more	Single nucleotide variant (synonymous variant +2 more)	Cone dystrophy 3	GUncertain significance
Select item 356687	NM_000409.5(GUCA1ANB-GUCA1A):c.-388C>A	CIMIP3, GUCA1A +1 more (H42N +1 more)	Single nucleotide variant (missense variant +2 more)	Cone dystrophy 3	GUncertain significance
Select item 908106	NM_000409.5(GUCA1ANB-GUCA1A):c.-378G>A	GUCA1ANB-GUCA1A, CIMIP3 +1 more (R45Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cone dystrophy 3	GUncertain significance
Select item 910054	NM_000409.5(GUCA1ANB-GUCA1A):c.-372G>A	CIMIP3, GUCA1A +1 more (R47Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cone dystrophy 3	GUncertain significance
Select item 356688	NM_000409.5(GUCA1ANB-GUCA1A):c.-293G>A	CIMIP3, GUCA1A +1 more	Single nucleotide variant (synonymous variant +2 more)	Cone dystrophy 3	GUncertain significance