CRIP3[gene] - ClinVar

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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	BYSL, CCND3 +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

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Items: 23