CRISP2[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594637	NM_003296.4(CRISP2):c.641G>C (p.Cys214Ser)	CRISP2 (C214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974734	NM_003296.4(CRISP2):c.515+968_604+1414del	CRISP2	Deletion (splice acceptor variant +1 more)	Megacolon	GUncertain significance
Select item 2237263	NM_003296.4(CRISP2):c.577C>G (p.Pro193Ala)	CRISP2 (P193A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589573	NM_003296.4(CRISP2):c.572G>A (p.Gly191Asp)	CRISP2 (G191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269536	NM_003296.4(CRISP2):c.571G>A (p.Gly191Ser)	CRISP2 (G191S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279167	NM_003296.4(CRISP2):c.562C>T (p.Pro188Ser)	CRISP2 (P188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077488	NM_003296.4(CRISP2):c.533G>C (p.Arg178Thr)	CRISP2 (R178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593281	NM_003296.4(CRISP2):c.529A>G (p.Asn177Asp)	CRISP2 (N177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243373	NM_003296.4(CRISP2):c.496G>A (p.Val166Ile)	CRISP2 (V166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355539	NM_003296.4(CRISP2):c.380C>G (p.Pro127Arg)	CRISP2 (P127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077486	NM_003296.4(CRISP2):c.379C>A (p.Pro127Thr)	CRISP2 (P127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529338	NM_003296.4(CRISP2):c.364G>C (p.Val122Leu)	CRISP2 (V122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208728	NM_003296.4(CRISP2):c.349G>A (p.Glu117Lys)	CRISP2 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473011	NM_003296.4(CRISP2):c.319T>C (p.Trp107Arg)	CRISP2 (W107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362121	NM_003296.4(CRISP2):c.206C>T (p.Thr69Met)	CRISP2 (T69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783463	NM_003296.4(CRISP2):c.183+5G>A	CRISP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2618420	NM_003296.4(CRISP2):c.180G>T (p.Lys60Asn)	CRISP2 (K60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776128	NM_003296.4(CRISP2):c.159A>G (p.Pro53=)	CRISP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269537	NM_003296.4(CRISP2):c.95C>T (p.Thr32Ile)	CRISP2 (T32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718016	NM_003296.4(CRISP2):c.66+6G>C	CRISP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2396765	NM_003296.4(CRISP2):c.50T>C (p.Leu17Ser)	CRISP2 (L17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463294	NM_003296.4(CRISP2):c.34G>C (p.Val12Leu)	CRISP2 (V12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320774	NM_003296.4(CRISP2):c.25C>A (p.Leu9Met)	CRISP2 (L9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23