CRIP3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 23

	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 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2539703	NM_206922.3(CRIP3):c.482G>A (p.Gly161Glu)	CRIP3 (G117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249495	NM_206922.3(CRIP3):c.461G>T (p.Cys154Phe)	CRIP3 (C154F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077457	NM_206922.3(CRIP3):c.437G>A (p.Arg146Gln)	CRIP3 (R102Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536729	NM_206922.3(CRIP3):c.329G>A (p.Ser110Asn)	CRIP3 (G66D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206221	NM_206922.3(CRIP3):c.280A>G (p.Ser94Gly)	CRIP3 (S94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370193	NM_206922.3(CRIP3):c.233A>G (p.Asn78Ser)	CRIP3 (N78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077456	NM_206922.3(CRIP3):c.224A>G (p.Tyr75Cys)	CRIP3 (Y75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391349	NM_206922.3(CRIP3):c.119C>A (p.Ser40Tyr)	CRIP3 (S40Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376608	NM_206922.3(CRIP3):c.73T>G (p.Trp25Gly)	CRIP3 (W25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209700	NM_206922.3(CRIP3):c.37T>C (p.Phe13Leu)	CRIP3 (F13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228834	NM_206922.3(CRIP3):c.13T>C (p.Cys5Arg)	CRIP3 (C5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235358	NM_206922.3(CRIP3):c.5G>C (p.Ser2Thr)	CRIP3 (S2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23