CRISP2[gene] - ClinVar

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
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
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1340034	GRCh37/hg19 6p12.3(chr6:49459881-50012992)x1	C6orf141, CENPQ +10 more	Copy number loss	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979548	GRCh37/hg19 6p12.3(chr6:48566675-50063411)x1	PGK2, DEFB113 +11 more	Copy number loss	not provided	GUncertain significance
Select item 814811	GRCh37/hg19 6p12.3(chr6:49459881-50024153)x1	DEFB113, C6orf141 +10 more	Copy number loss	not provided	GUncertain significance
Select item 688387	GRCh37/hg19 6p12.3(chr6:48617762-49836065)x3	C6orf141, CENPQ +7 more	Copy number gain	not provided	GUncertain significance
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
Select item 253810	GRCh37/hg19 6p12.3(chr6:48682849-49834213)x3	RHAG, CENPQ +7 more	Copy number gain	See cases	GUncertain significance

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: 36