ClinVar for Gene (Select 7180) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3077486	NM_003296.4(CRISP2):c.379C>A (p.Pro127Thr)	CRISP2 (P127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2594637	NM_003296.4(CRISP2):c.641G>C (p.Cys214Ser)	CRISP2 (C214S)	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 2589573	NM_003296.4(CRISP2):c.572G>A (p.Gly191Asp)	CRISP2 (G191D)	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 2473011	NM_003296.4(CRISP2):c.319T>C (p.Trp107Arg)	CRISP2 (W107R)	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 2396765	NM_003296.4(CRISP2):c.50T>C (p.Leu17Ser)	CRISP2 (L17S)	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 2355539	NM_003296.4(CRISP2):c.380C>G (p.Pro127Arg)	CRISP2 (P127R)	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 2279167	NM_003296.4(CRISP2):c.562C>T (p.Pro188Ser)	CRISP2 (P188S)	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 2237263	NM_003296.4(CRISP2):c.577C>G (p.Pro193Ala)	CRISP2 (P193A)	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 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 974734	NM_003296.4(CRISP2):c.515+968_604+1414del	CRISP2	Deletion (splice acceptor variant +1 more)	Megacolon	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 783463	NM_003296.4(CRISP2):c.183+5G>A	CRISP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 776128	NM_003296.4(CRISP2):c.159A>G (p.Pro53=)	CRISP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718016	NM_003296.4(CRISP2):c.66+6G>C	CRISP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +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
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	ADGRF1, ADGRF2 +228 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 34