ClinVar for Gene (Select 835) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	TMEM176A, TMEM178B +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +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	ACTR3C, ADCK2 +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 specified	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	ADCK2, AGBL3 +105 more	Copy number loss	Small face +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 (3 prime UTR 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	LOC129999666, LOC129999667 +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	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +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	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 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	LOC121740684, LOC121740685 +4735 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	LOC129999649, LOC129999650 +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	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +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

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Links from Gene

Items: 85