790[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 1246361	NM_001170795.4(ATRAID):c.*203del	ATRAID, CAD	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 3011796	NM_004341.5(CAD):c.10C>T (p.Leu4=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608142	NM_004341.5(CAD):c.12A>G (p.Leu4=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547083	NM_004341.5(CAD):c.21G>A (p.Glu7=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817567	NM_004341.5(CAD):c.24C>T (p.Asp8=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879609	NM_004341.5(CAD):c.27G>T (p.Gly9=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074733	NM_004341.5(CAD):c.27G>A (p.Gly9=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870162	NM_004341.5(CAD):c.30G>C (p.Ser10=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718428	NM_004341.5(CAD):c.33C>G (p.Val11=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967388	NM_004341.5(CAD):c.33C>T (p.Val11=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438919	NM_004341.5(CAD):c.43C>G (p.Gln15Glu)	CAD (Q15E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591801	NM_004341.5(CAD):c.43C>T (p.Gln15Ter)	CAD (Q15*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1439994	NM_004341.5(CAD):c.44A>G (p.Gln15Arg)	CAD (Q15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697526	NM_004341.5(CAD):c.45G>T (p.Gln15His)	CAD (Q15H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995917	NM_004341.5(CAD):c.46C>G (p.Pro16Ala)	CAD (P16A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868323	NM_004341.5(CAD):c.63G>A (p.Val21=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994978	NM_004341.5(CAD):c.72C>T (p.Ala24=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961288	NM_004341.5(CAD):c.75G>C (p.Gly25=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431446	NM_004341.5(CAD):c.78A>G (p.Glu26=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 750291	NM_004341.5(CAD):c.82+10C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863904	NM_004341.5(CAD):c.82+11C>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639837	NM_004341.5(CAD):c.82+12C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746425	NM_004341.5(CAD):c.82+19G>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265802	NM_004341.5(CAD):c.83-23C>T	CAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1956117	NM_004341.5(CAD):c.83-19C>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096864	NM_004341.5(CAD):c.83-16T>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997642	NM_004341.5(CAD):c.83-15G>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965907	NM_004341.5(CAD):c.83-14C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809893	NM_004341.5(CAD):c.83-11_83-9del	CAD	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1576106	NM_004341.5(CAD):c.83-12T>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981300	NM_004341.5(CAD):c.83-9T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720148	NM_004341.5(CAD):c.83-3C>T	CAD	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2870928	NM_004341.5(CAD):c.90A>G (p.Gln30=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388279	NM_004341.5(CAD):c.92C>T (p.Thr31Ile)	CAD (T31I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135070	NM_004341.5(CAD):c.93C>A (p.Thr31=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084507	NM_004341.5(CAD):c.96C>T (p.Gly32=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 374829	NM_004341.5(CAD):c.98T>G (p.Met33Arg)	CAD (M33R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1479905	NM_004341.5(CAD):c.110C>T (p.Pro37Leu)	CAD (P37L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845584	NM_004341.5(CAD):c.111C>T (p.Pro37=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959328	NM_004341.5(CAD):c.111C>G (p.Pro37=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779529	NM_004341.5(CAD):c.117C>T (p.Ala39=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600079	NM_004341.5(CAD):c.123= (p.Thr41=)	CAD	Variation (no sequence alteration)	not provided	GBenign
Select item 767786	NM_004341.5(CAD):c.123T>C (p.Thr41=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741011	NM_004341.5(CAD):c.129C>T (p.Pro43=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351531	NM_004341.5(CAD):c.135C>A (p.Tyr45Ter)	CAD (Y45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1417824	NM_004341.5(CAD):c.138G>A (p.Lys46=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128492	NM_004341.5(CAD):c.140C>T (p.Ala47Val)	CAD (A47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733395	NM_004341.5(CAD):c.141A>G (p.Ala47=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640305	NM_004341.5(CAD):c.144G>A (p.Gln48=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360170	NM_004341.5(CAD):c.145A>T (p.Ile49Phe)	CAD (I49F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840696	NM_004341.5(CAD):c.153G>A (p.Val51=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468072	NM_004341.5(CAD):c.154C>T (p.Leu52Phe)	CAD (L52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821844	NM_004341.5(CAD):c.156C>A (p.Leu52=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064357	NM_004341.5(CAD):c.156C>T (p.Leu52=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352935	NM_004341.5(CAD):c.158C>T (p.Thr53Ile)	CAD (T53I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857780	NM_004341.5(CAD):c.159C>T (p.Thr53=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351807	NM_004341.5(CAD):c.163C>T (p.Pro55Ser)	CAD (P55S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2998070	NM_004341.5(CAD):c.171C>T (p.Ile57=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369170	NM_004341.5(CAD):c.172G>C (p.Gly58Arg)	CAD (G58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 493272	NM_004341.5(CAD):c.178T>C (p.Tyr60His)	CAD (Y60H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852464	NM_004341.5(CAD):c.180T>C (p.Tyr60=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798239	NM_004341.5(CAD):c.183C>A (p.Gly61=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944362	NM_004341.5(CAD):c.186C>T (p.Ile62=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463297	NM_004341.5(CAD):c.188C>T (p.Pro63Leu)	CAD (P63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363874	NM_004341.5(CAD):c.191C>G (p.Pro64Arg)	CAD (P64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2801796	NM_004341.5(CAD):c.192A>G (p.Pro64=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391557	NM_004341.5(CAD):c.204T>G (p.Asp68Glu)	CAD (D68E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028220	NM_004341.5(CAD):c.208T>C (p.Phe70Leu)	CAD (F70L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 50	GUncertain significance
Select item 2060217	NM_004341.5(CAD):c.217T>G (p.Cys73Gly)	CAD (C73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701374	NM_004341.5(CAD):c.222+1G>A	CAD	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2046524	NM_004341.5(CAD):c.222+5C>A	CAD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2744750	NM_004341.5(CAD):c.222+10C>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975037	NM_004341.5(CAD):c.222+10C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778416	NM_004341.5(CAD):c.222+15T>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777620	NM_004341.5(CAD):c.222+17C>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088752	NM_004341.5(CAD):c.222+20T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246725	NM_004341.5(CAD):c.222+134C>G	CAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252738	NM_004341.5(CAD):c.223-62G>A	CAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2963154	NM_004341.5(CAD):c.223-20C>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862215	NM_004341.5(CAD):c.223-18A>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815788	NM_004341.5(CAD):c.223-18A>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710549	NM_004341.5(CAD):c.223-17T>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546001	NM_004341.5(CAD):c.223-8A>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999179	NM_004341.5(CAD):c.223-7T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979781	NM_004341.5(CAD):c.223-6_223-5del	CAD	Deletion (intron variant)	not provided	GLikely benign
Select item 2859002	NM_004341.5(CAD):c.223-6C>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579933	NM_004341.5(CAD):c.223-4A>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1519660	NM_004341.5(CAD):c.223-3C>T	CAD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1028221	NM_004341.5(CAD):c.223-2A>G	CAD	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 50	GUncertain significance
Select item 1593516	NM_004341.5(CAD):c.237G>A (p.Ser79=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124690	NM_004341.5(CAD):c.245A>G (p.His82Arg)	CAD (H82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356156	NM_004341.5(CAD):c.246C>G (p.His82Gln)	CAD (H82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737040	NM_004341.5(CAD):c.246C>T (p.His82=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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