CAPS2[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +126 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 153539	GRCh38/hg38 12q21.1-21.2(chr12:75019031-75720674)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 144519	GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2499648	GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)	CAPS2, GLIPR1 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2388683	NM_001355024.4(CAPS2):c.1448T>C (p.Ile483Thr)	CAPS2 (I130T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263274	NM_001355024.4(CAPS2):c.1444A>G (p.Ile482Val)	CAPS2 (I307V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603275	NM_001355024.4(CAPS2):c.1397G>A (p.Arg466Gln)	CAPS2 (R113Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375912	NM_001355024.4(CAPS2):c.1357A>G (p.Ile453Val)	CAPS2 (I373V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364527	NM_001355024.4(CAPS2):c.1324G>A (p.Gly442Ser)	CAPS2 (G267S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324245	NM_001355024.4(CAPS2):c.1289A>G (p.Glu430Gly)	CAPS2 (E255G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137249	NM_001355024.4(CAPS2):c.1285T>G (p.Phe429Val)	CAPS2 (F349V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588595	NM_001355024.4(CAPS2):c.1219C>G (p.Leu407Val)	CAPS2 (L232V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334235	NM_001355024.4(CAPS2):c.1048A>C (p.Lys350Gln)	CAPS2 (K175Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318372	NM_001355024.4(CAPS2):c.1024G>C (p.Asp342His)	CAPS2 (D167H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468274	NM_001355024.4(CAPS2):c.961C>A (p.His321Asn)	CAPS2 (H241N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137248	NM_001355024.4(CAPS2):c.946T>C (p.Phe316Leu)	CAPS2 (F316L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263272	NM_001355024.4(CAPS2):c.928G>T (p.Val310Phe)	CAPS2 (V281F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366362	NM_001355024.4(CAPS2):c.913C>T (p.Leu305Phe)	CAPS2 (L280F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263270	NM_001355024.4(CAPS2):c.862A>C (p.Lys288Gln)	CAPS2 (K113Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348252	NM_001355024.4(CAPS2):c.838A>G (p.Thr280Ala)	CAPS2 (T251A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554283	NM_001355024.4(CAPS2):c.833A>G (p.Asn278Ser)	CAPS2 (N103S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511862	NM_001355024.4(CAPS2):c.806T>G (p.Ile269Ser)	CAPS2 (I269S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137254	NM_001355024.4(CAPS2):c.799C>T (p.Leu267Phe)	CAPS2 (L238F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236301	NM_001355024.4(CAPS2):c.790G>T (p.Asp264Tyr)	CAPS2 (D264Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357800	NM_001355024.4(CAPS2):c.785C>T (p.Thr262Ile)	CAPS2 (T319I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378481	NM_001355024.4(CAPS2):c.724G>A (p.Gly242Ser)	CAPS2 (G213S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396523	NM_001355024.4(CAPS2):c.707A>G (p.His236Arg)	CAPS2 (H207R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494244	NM_001355024.4(CAPS2):c.701T>G (p.Leu234Arg)	CAPS2 (L186R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263268	NM_001355024.4(CAPS2):c.656A>C (p.His219Pro)	CAPS2 (H257P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137253	NM_001355024.4(CAPS2):c.584A>G (p.Glu195Gly)	CAPS2 (E195G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783668	NM_001355024.4(CAPS2):c.567G>A (p.Glu189=)	CAPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2385514	NM_001355024.4(CAPS2):c.527T>C (p.Met176Thr)	CAPS2 (M233T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263269	NM_001355024.4(CAPS2):c.436A>G (p.Asn146Asp)	CAPS2 (N117D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239795	NM_001355024.4(CAPS2):c.392C>T (p.Thr131Met)	CAPS2 (T169M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215471	NM_001355024.4(CAPS2):c.364G>T (p.Asp122Tyr)	CAPS2 (D160Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263273	NM_001355024.4(CAPS2):c.356G>A (p.Cys119Tyr)	CAPS2 (C157Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 782877	NM_001355024.4(CAPS2):c.355T>C (p.Cys119Arg)	CAPS2 (C126R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2568802	NM_001355024.4(CAPS2):c.350A>G (p.Glu117Gly)	CAPS2 (E155G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373767	NM_001355024.4(CAPS2):c.313G>A (p.Val105Ile)	CAPS2 (V105I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2277031	NM_001355024.4(CAPS2):c.288A>C (p.Arg96Ser)	CAPS2 (R153S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137252	NM_001355024.4(CAPS2):c.265G>A (p.Gly89Ser)	CAPS2 (G60S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137251	NM_001355024.4(CAPS2):c.187A>G (p.Ile63Val)	CAPS2 (I101V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 742338	NM_001355024.4(CAPS2):c.177+210A>G	CAPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3137250	NM_001355024.4(CAPS2):c.177+156G>T	CAPS2 (V101F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263554	NM_001355024.4(CAPS2):c.177+142C>T	CAPS2 (S77F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267554	NM_001355024.4(CAPS2):c.177+130C>A	CAPS2 (P73Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 778643	NM_001355024.4(CAPS2):c.156C>T (p.Ser52=)	CAPS2	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 3263275	NM_001355024.4(CAPS2):c.143T>C (p.Leu48Pro)	CAPS2 (L48P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2594288	NM_001355024.4(CAPS2):c.133G>T (p.Val45Phe)	CAPS2 (V16F +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137255	NM_001355024.4(CAPS2):c.41G>A (p.Ser14Asn)	CAPS2 (S14N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612268	NM_001355024.4(CAPS2):c.2T>C (p.Met1Thr)	CAPS2 (M1T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2217150	NM_001355024.4(CAPS2):c.-1A>T	CAPS2 (Q19H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306317	NM_001355024.4(CAPS2):c.-30+33C>A	CAPS2 (A9E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306316	NM_001355024.4(CAPS2):c.-30+32G>A	CAPS2 (A9T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281579	NM_001304964.2(GLIPR1L1):c.136G>A (p.Gly46Ser)	CAPS2, GLIPR1L1 (G46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556360	NM_001304964.2(GLIPR1L1):c.154G>A (p.Ala52Thr)	CAPS2, GLIPR1L1 (A52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324255	NM_001304964.2(GLIPR1L1):c.182A>G (p.Asp61Gly)	CAPS2, GLIPR1L1 (D61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378856	NM_001304964.2(GLIPR1L1):c.230T>C (p.Phe77Ser)	CAPS2, GLIPR1L1 (F77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283938	NM_001304964.2(GLIPR1L1):c.404G>A (p.Cys135Tyr)	CAPS2, GLIPR1L1 (C135Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100227	NM_001304964.2(GLIPR1L1):c.458T>C (p.Val153Ala)	CAPS2, GLIPR1L1 (V153A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267921	NM_001304964.2(GLIPR1L1):c.463A>G (p.Met155Val)	CAPS2, GLIPR1L1 (M155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331261	NM_001304964.2(GLIPR1L1):c.523G>A (p.Gly175Arg)	CAPS2, GLIPR1L1 (G175R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604109	NM_001304964.2(GLIPR1L1):c.545C>T (p.Pro182Leu)	CAPS2, GLIPR1L1 (P182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540365	NM_001304964.2(GLIPR1L1):c.550G>C (p.Val184Leu)	CAPS2, GLIPR1L1 (V184L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281603	NM_001304964.2(GLIPR1L1):c.560A>C (p.Glu187Ala)	CAPS2, GLIPR1L1 (E187A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 1808753	GRCh37/hg19 12q21.1-21.2(chr12:75417920-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527713	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)	CAPS2, GLIPR1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1341251	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 563957	GRCh37/hg19 12q21.1-21.2(chr12:75417919-76110508)x3	GLIPR1, GLIPR1L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 79