ClinVar for Gene (Select 1371) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068558	NM_000097.7(CPOX):c.488_509delinsAGCTGCTGATTCTGG (p.Val163fs)	CPOX (V163fs)	Indel (frameshift variant)	CPOX-related hereditary coproporphyria	GLikely pathogenic
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3049954	NM_000097.7(CPOX):c.102G>A (p.Gly34=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	CPOX-related condition	GLikely benign
Select item 3038176	NM_000097.7(CPOX):c.153T>G (p.Pro51=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	CPOX-related condition	GLikely benign
Select item 3031862	NM_000097.7(CPOX):c.1336C>A (p.Leu446Ile)	CPOX (L446I)	Single nucleotide variant (missense variant)	CPOX-related condition	GUncertain significance
Select item 3023456	NM_000097.7(CPOX):c.158C>T (p.Pro53Leu)	CPOX, LOC129937121 (P53L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021906	NM_000097.7(CPOX):c.55G>A (p.Gly19Ser)	CPOX, LOC129937121 (G19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017971	NM_000097.7(CPOX):c.6C>T (p.Ala2=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017578	NM_000097.7(CPOX):c.588T>A (p.Asp196Glu)	CPOX (D196E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010317	NM_000097.7(CPOX):c.442A>T (p.Met148Leu)	CPOX (M148L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000091	NM_000097.7(CPOX):c.638A>G (p.Asn213Ser)	CPOX (N213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981482	NM_000097.7(CPOX):c.148C>T (p.Pro50Ser)	CPOX, LOC129937121 (P50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977173	NM_000097.7(CPOX):c.348GGA[4] (p.Glu120del)	CPOX (E120del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2977152	NM_000097.7(CPOX):c.1134C>T (p.Thr378=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971444	NM_000097.7(CPOX):c.626T>A (p.Val209Asp)	CPOX (V209D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971443	NM_000097.7(CPOX):c.1070G>A (p.Cys357Tyr)	CPOX (C357Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961116	NM_000097.7(CPOX):c.1340G>A (p.Arg447His)	CPOX (R447H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887261	NM_000097.7(CPOX):c.81G>T (p.Trp27Cys)	CPOX, LOC129937121 (W27C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883352	NM_000097.7(CPOX):c.193G>A (p.Gly65Ser)	CPOX, LOC129937121 (G65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873096	NM_000097.7(CPOX):c.371C>T (p.Ala124Val)	CPOX (A124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867487	NM_000097.7(CPOX):c.645del (p.Glu216fs)	CPOX (E216fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2864548	NM_000097.7(CPOX):c.871G>T (p.Glu291Ter)	CPOX (E291*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2829576	NM_000097.7(CPOX):c.904G>C (p.Glu302Gln)	CPOX (E302Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815459	NM_000097.7(CPOX):c.392T>G (p.Met131Arg)	CPOX (M131R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717960	NM_000097.7(CPOX):c.211G>C (p.Gly71Arg)	CPOX, LOC129937121 (G71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714985	NM_000097.7(CPOX):c.811+7G>A	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710197	NM_000097.7(CPOX):c.114G>C (p.Trp38Cys)	CPOX, LOC129937121 (W38C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2700145	NM_000097.7(CPOX):c.556+18T>A	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2682842	NM_000097.7(CPOX):c.87G>T (p.Gln29His)	CPOX, LOC129937121 (Q29H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682841	NM_000097.7(CPOX):c.835G>A (p.Gly279Ser)	CPOX (G279S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682840	NM_000097.7(CPOX):c.1172+5G>T	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2654001	NM_000097.7(CPOX):c.480G>A (p.Gln160=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654000	NM_000097.7(CPOX):c.706T>C (p.Leu236=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631837	NM_000097.7(CPOX):c.242C>G (p.Ala81Gly)	CPOX, LOC129937121 (A81G)	Single nucleotide variant (missense variant)	CPOX-related condition	GUncertain significance
Select item 2629606	NM_000097.7(CPOX):c.1345C>T (p.Pro449Ser)	CPOX (P449S)	Single nucleotide variant (missense variant)	CPOX-related condition	GUncertain significance
Select item 2628506	NM_000097.7(CPOX):c.248C>T (p.Ala83Val)	CPOX, LOC129937121 (A83V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2540004	NM_000097.7(CPOX):c.514G>A (p.Gly172Arg)	CPOX (G172R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540003	NM_000097.7(CPOX):c.125G>T (p.Ser42Ile)	CPOX, LOC129937121 (S42I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525020	NM_000097.7(CPOX):c.139G>C (p.Val47Leu)	CPOX, LOC129937121 (V47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519346	NM_000097.7(CPOX):c.29C>T (p.Ser10Leu)	CPOX, LOC129937121 (S10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497690	NM_000097.7(CPOX):c.278T>C (p.Phe93Ser)	CPOX, LOC129937121 (F93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2476864	NM_000097.7(CPOX):c.973A>G (p.Ile325Val)	CPOX (I325V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467201	NM_000097.7(CPOX):c.192C>A (p.His64Gln)	CPOX, LOC129937121 (H64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444760	NM_000097.7(CPOX):c.811+5G>C	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2427890	NM_000097.7(CPOX):c.552G>A (p.Lys184=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415391	NM_000097.7(CPOX):c.685C>T (p.Leu229=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405402	NM_000097.7(CPOX):c.666G>A (p.Met222Ile)	CPOX (M222I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403694	NM_000097.7(CPOX):c.355G>A (p.Glu119Lys)	CPOX, LOC129937121 (E119K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385795	NM_000097.7(CPOX):c.347C>A (p.Pro116Gln)	CPOX, LOC129937121 (P116Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2250023	NM_000097.7(CPOX):c.100G>C (p.Gly34Arg)	CPOX, LOC129937121 (G34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243150	NM_000097.7(CPOX):c.61T>G (p.Cys21Gly)	CPOX, LOC129937121 (C21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237379	NM_000097.7(CPOX):c.52C>T (p.Arg18Trp)	CPOX, LOC129937121 (R18W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234779	NM_000097.7(CPOX):c.486G>C (p.Gln162His)	CPOX (Q162H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223982	NM_000097.7(CPOX):c.364G>A (p.Glu122Lys)	CPOX (E122K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200721	NM_000097.7(CPOX):c.73C>G (p.Arg25Gly)	CPOX, LOC129937121 (R25G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2176986	NM_000097.7(CPOX):c.192C>T (p.His64=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166139	NM_000097.7(CPOX):c.65G>A (p.Gly22Glu)	CPOX, LOC129937121 (G22E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114370	NM_000097.7(CPOX):c.701-1G>A	CPOX	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2110857	NM_000097.7(CPOX):c.755C>T (p.Pro252Leu)	CPOX (P252L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094246	NM_000097.7(CPOX):c.297G>C (p.Ala99=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093077	NM_000097.7(CPOX):c.1334T>A (p.Val445Asp)	CPOX (V445D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079776	NM_000097.7(CPOX):c.590G>A (p.Gly197Glu)	CPOX (G197E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064719	NM_000097.7(CPOX):c.392T>C (p.Met131Thr)	CPOX (M131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053012	NM_000097.7(CPOX):c.415G>C (p.Gly139Arg)	CPOX (G139R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052776	NM_000097.7(CPOX):c.631C>A (p.His211Asn)	CPOX (H211N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052603	NM_000097.7(CPOX):c.732C>T (p.Ser244=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024584	NM_000097.7(CPOX):c.855A>C (p.Pro285=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014109	NM_000097.7(CPOX):c.5C>T (p.Ala2Val)	CPOX, LOC129937121 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011018	NM_000097.7(CPOX):c.46G>C (p.Val16Leu)	CPOX, LOC129937121 (V16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010340	NM_000097.7(CPOX):c.349G>A (p.Glu117Lys)	CPOX, LOC129937121 (E117K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003344	NM_000097.7(CPOX):c.625GTT[1] (p.Val210del)	CPOX (V210del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1983687	NM_000097.7(CPOX):c.1277+16A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983087	NM_000097.7(CPOX):c.679A>G (p.Lys227Glu)	CPOX (K227E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966239	NM_000097.7(CPOX):c.701G>A (p.Gly234Asp)	CPOX (G234D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960770	NM_000097.7(CPOX):c.866A>G (p.Asn289Ser)	CPOX (N289S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923161	NM_000097.7(CPOX):c.954-17G>A	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910631	NM_000097.7(CPOX):c.146G>A (p.Arg49Gln)	LOC129937121, CPOX (R49Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903638	NM_000097.7(CPOX):c.87G>A (p.Gln29=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896587	NM_000097.7(CPOX):c.121C>G (p.Arg41Gly)	CPOX, LOC129937121 (R41G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716081	NM_000097.7(CPOX):c.1077G>C (p.Arg359Ser)	CPOX (R359S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709963	NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)	CPOX (K316*)	Single nucleotide variant (nonsense)	Hereditary coproporphyria	GLikely pathogenic
Select item 1693874	NM_000097.7(CPOX):c.938C>G (p.Pro313Arg)	CPOX (P313R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691675	NM_000097.7(CPOX):c.1133C>T (p.Thr378Ile)	CPOX (T378I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679116	NM_000097.7(CPOX):c.700+2T>C	CPOX	Single nucleotide variant (splice donor variant)	Harderoporphyria +1 more	GLikely pathogenic
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1653132	NM_000097.7(CPOX):c.99A>G (p.Gly33=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609448	NM_000097.7(CPOX):c.1173-16G>T	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601251	NM_000097.7(CPOX):c.1172+17C>T	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1536879	NM_000097.7(CPOX):c.1172+20A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1520684	NM_000097.7(CPOX):c.257T>C (p.Val86Ala)	CPOX, LOC129937121 (V86A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1485318	NM_000097.7(CPOX):c.589G>C (p.Gly197Arg)	CPOX (G197R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476915	NM_000097.7(CPOX):c.438C>T (p.Gly146=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1473462	NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp)	CPOX (R391W)	Single nucleotide variant (missense variant)	CPOX-related disorders +1 more	GConflicting classifications of pathogenicity
Select item 1467271	NM_000097.7(CPOX):c.266C>T (p.Ala89Val)	CPOX, LOC129937121 (A89V)	Single nucleotide variant (missense variant)	CPOX-related condition +1 more	GUncertain significance
Select item 1463310	NM_000097.7(CPOX):c.156C>T (p.Gly52=)	CPOX, LOC129937121	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1457857	NM_000097.7(CPOX):c.1268dup (p.Thr424fs)	CPOX (T424fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1456595	NM_000097.7(CPOX):c.32del (p.Gly11fs)	CPOX, LOC129937121 (G11fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1454519	NC_000003.11:g.(?_98299527)_(98304523_?)del	CPOX	Deletion	not provided	GPathogenic
Select item 1450525	NM_000097.7(CPOX):c.1277+9A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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