ClinVar for Gene (Select 835) - ClinVar

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

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263426	NM_032982.4(CASP2):c.818C>T (p.Ala273Val)	CASP2 (A273V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3137595	NM_032982.4(CASP2):c.85G>A (p.Val29Met)	CASP2 (V29M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3137594	NM_032982.4(CASP2):c.753G>A (p.Met251Ile)	CASP2 (M220I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137593	NM_032982.4(CASP2):c.71G>T (p.Arg24Leu)	CASP2, LOC129999515 (R24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137592	NM_032982.4(CASP2):c.641A>G (p.Lys214Arg)	CASP2 (K214R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137591	NM_032982.4(CASP2):c.433T>C (p.Cys145Arg)	CASP2 (C145R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137590	NM_032982.4(CASP2):c.162C>G (p.Ser54Arg)	CASP2 (S54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3057249	NM_032982.4(CASP2):c.55G>A (p.Ala19Thr)	CASP2, LOC129999515 (A19T)	Single nucleotide variant (missense variant)	CASP2-related disorder	GLikely benign
Select item 3049220	NM_032982.4(CASP2):c.906C>T (p.Asn302=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	CASP2-related disorder	GLikely benign
Select item 3043963	NM_032982.4(CASP2):c.1011C>T (p.His337=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	CASP2-related disorder	GLikely benign
Select item 3040385	NM_032982.4(CASP2):c.876+9A>G	CASP2	Single nucleotide variant (intron variant)	CASP2-related disorder	GLikely benign
Select item 3036802	NM_032982.4(CASP2):c.532C>G (p.Pro178Ala)	CASP2 (A105G +2 more)	Single nucleotide variant (missense variant)	CASP2-related disorder	GLikely benign
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2684506	GRCh37/hg19 7q34-35(chr7:142833114-143218955)x3	CASP2, CLCN1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2658113	NM_032982.4(CASP2):c.1236A>C (p.Ala412=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2658112	NM_032982.4(CASP2):c.926A>G (p.Gln309Arg)	CASP2 (Q278R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658111	NM_032982.4(CASP2):c.793C>G (p.Arg265Gly)	CASP2 (R234G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2596943	NM_032982.4(CASP2):c.1190G>A (p.Arg397Gln)	CASP2 (R397Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2589645	NM_032982.4(CASP2):c.531G>T (p.Lys177Asn)	CASP2 (K146N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2555564	NM_032982.4(CASP2):c.1081C>T (p.Arg361Cys)	CASP2 (R361C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547794	NM_032982.4(CASP2):c.1250G>A (p.Arg417Gln)	CASP2 (R417Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2499511	NM_032982.4(CASP2):c.876+1G>T	CASP2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 2499471	NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)	CASP2 (R13* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2499470	NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)	CASP2 (Q392*)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2499469	NM_032982.4(CASP2):c.1156del (p.Tyr386fs)	CASP2 (Y386fs)	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2492289	NM_032982.4(CASP2):c.32C>T (p.Thr11Ile)	CASP2, LOC129999515 (T11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470872	NM_032982.4(CASP2):c.596G>A (p.Arg199His)	CASP2 (R168H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2254917	NM_032982.4(CASP2):c.544G>A (p.Glu182Lys)	CASP2 (E182K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250529	NM_032982.4(CASP2):c.1004A>G (p.Lys335Arg)	CASP2 (K335R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241686	NM_032982.4(CASP2):c.935C>T (p.Pro312Leu)	CASP2 (P312L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219761	NM_032982.4(CASP2):c.150G>C (p.Gln50His)	CASP2 (Q19H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219015	NM_032982.4(CASP2):c.991C>G (p.Gln331Glu)	CASP2 (Q331E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2204082	NM_032982.4(CASP2):c.1060C>G (p.Pro354Ala)	CASP2 (P354A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527406	GRCh37/hg19 7q34-35(chr7:142691458-143193361)	CASP2, CLCN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 985938	NM_032982.4(CASP2):c.560_561del (p.His187fs)	CASP2 (H156fs +1 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 774665	NM_032982.4(CASP2):c.762A>G (p.Lys254=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768215	NM_032982.4(CASP2):c.453C>T (p.Tyr151=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 715721	NM_032982.4(CASP2):c.87G>A (p.Val29=)	CASP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 710252	NM_032982.4(CASP2):c.1161C>T (p.Ile387=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 710251	NM_032982.4(CASP2):c.801G>A (p.Thr267=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709219	NM_032982.4(CASP2):c.1062G>A (p.Pro354=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 86