ClinVar for Gene (Select 11151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076365	NM_007074.4(CORO1A):c.1241G>A (p.Arg414His)	CORO1A (R414H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 3047325	NM_007074.4(CORO1A):c.495G>A (p.Ala165=)	CORO1A	Single nucleotide variant (synonymous variant)	CORO1A-related disorder	GLikely benign
Select item 3040184	NM_007074.4(CORO1A):c.519G>A (p.Glu173=)	CORO1A	Single nucleotide variant (synonymous variant)	CORO1A-related disorder	GLikely benign
Select item 3024604	GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	GPathogenic
Select item 3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	ALDOA, ASPHD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 3019641	NM_007074.4(CORO1A):c.451+11A>G	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 3014405	NM_007074.4(CORO1A):c.199-15C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 3010106	NM_007074.4(CORO1A):c.915C>T (p.His305=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 3002636	NM_007074.4(CORO1A):c.1007+8del	CORO1A	Deletion (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2996460	NM_007074.4(CORO1A):c.198+20G>C	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2962354	NM_007074.4(CORO1A):c.711G>A (p.Thr237=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2956615	NM_007074.4(CORO1A):c.1007+15dup	CORO1A	Duplication (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2915368	NM_007074.4(CORO1A):c.615C>T (p.Pro205=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2905303	NM_007074.4(CORO1A):c.255A>G (p.Leu85=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2901941	NM_007074.4(CORO1A):c.636+15_636+17del	CORO1A, LOC121587541	Deletion (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2897043	NM_007074.4(CORO1A):c.636+18C>T	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2891849	NM_007074.4(CORO1A):c.249T>C (p.Pro83=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2889982	NM_007074.4(CORO1A):c.684C>T (p.Phe228=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2885690	NM_007074.4(CORO1A):c.451+7C>G	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2875148	NM_007074.4(CORO1A):c.1089G>A (p.Leu363=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2862304	NM_007074.4(CORO1A):c.903C>T (p.Ala301=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2851844	NM_007074.4(CORO1A):c.1008-10C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2850894	NM_007074.4(CORO1A):c.1065+15C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2843893	NM_007074.4(CORO1A):c.147G>A (p.Leu49=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2837451	NM_007074.4(CORO1A):c.321G>A (p.Met107Ile)	CORO1A (M107I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2833636	NM_007074.4(CORO1A):c.249T>G (p.Pro83=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2817994	NM_007074.4(CORO1A):c.19C>T (p.Arg7Cys)	CORO1A (R7C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2809851	NM_007074.4(CORO1A):c.756_756+1del	CORO1A, LOC121587541	Deletion (splice donor variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely pathogenic
Select item 2802681	NM_007074.4(CORO1A):c.129C>T (p.Asn43=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2794372	NM_007074.4(CORO1A):c.1020G>A (p.Leu340=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2790552	NM_007074.4(CORO1A):c.582C>A (p.Ser194=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2780002	NM_007074.4(CORO1A):c.1218C>T (p.Val406=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2740908	NM_007074.4(CORO1A):c.636+7C>T	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2739593	NM_007074.4(CORO1A):c.198+13G>C	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2727634	NM_007074.4(CORO1A):c.861+12G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2721944	NM_007074.4(CORO1A):c.954C>G (p.Gly318=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2721821	NM_007074.4(CORO1A):c.451+16G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2719998	NM_007074.4(CORO1A):c.186G>C (p.Leu62=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2715852	NM_007074.4(CORO1A):c.1134G>A (p.Glu378=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2715041	NM_007074.4(CORO1A):c.303C>T (p.Ser101=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2704426	NM_007074.4(CORO1A):c.1122C>A (p.Leu374=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2697982	NM_007074.4(CORO1A):c.1066-13G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2694424	NM_007074.4(CORO1A):c.735G>A (p.Arg245=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2685573	GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2684803	GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 2683356	NM_007074.4(CORO1A):c.1142G>C (p.Gly381Ala)	CORO1A (G381A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672674	GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2671579	Single allele	ALDOA, ASPHD1 +25 more	Duplication	not provided	GPathogenic
Select item 2617044	NM_007074.4(CORO1A):c.1195C>A (p.Pro399Thr)	CORO1A (P399T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582950	GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3	ALDOA, ASPHD1 +25 more	Copy number gain	not provided	GPathogenic
Select item 2580337	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580331	GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580320	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3	ALDOA, ASPHD1 +25 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580312	GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1	ALDOA, ASPHD1 +28 more	Copy number loss	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2570962	GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2529549	NM_007074.4(CORO1A):c.721C>T (p.Arg241Cys)	CORO1A, LOC121587541 (R241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506560	GRCh37/hg19 16p11.2(chr16:29495011-30206548)	ALDOA, ASPHD1 +27 more	Copy number loss	Infantile convulsions and choreoathetosis	GPathogenic
Select item 2501799	NM_007074.4(CORO1A):c.602G>A (p.Arg201His)	CORO1A, LOC121587541 (R201H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2475959	NM_007074.4(CORO1A):c.1271C>G (p.Thr424Ser)	CORO1A (T424S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466890	NM_007074.4(CORO1A):c.631G>A (p.Val211Ile)	CORO1A, LOC121587541 (V211I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425683	NC_000016.9:g.(?_30199895)_(30237215_?)del	BOLA2B, CORO1A +2 more	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2338636	NM_007074.4(CORO1A):c.664C>T (p.Arg222Trp)	CORO1A, LOC121587541 (R222W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308262	NM_007074.4(CORO1A):c.361C>T (p.Arg121Trp)	CORO1A (R121W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299849	NM_007074.4(CORO1A):c.1168A>C (p.Ile390Leu)	CORO1A (I390L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265943	NM_007074.4(CORO1A):c.679G>C (p.Val227Leu)	CORO1A, LOC121587541 (V227L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265373	NM_007074.4(CORO1A):c.1023C>A (p.His341Gln)	CORO1A (H341Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233467	NM_007074.4(CORO1A):c.292G>A (p.Ala98Thr)	CORO1A (A98T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202136	NM_007074.4(CORO1A):c.1115C>G (p.Pro372Arg)	CORO1A (P372R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2201338	NM_007074.4(CORO1A):c.321+15G>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GBenign
Select item 2193250	NM_007074.4(CORO1A):c.862-7C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2189244	NM_007074.4(CORO1A):c.1269C>T (p.Gly423=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2189243	NM_007074.4(CORO1A):c.1251A>G (p.Ala417=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2183903	NM_007074.4(CORO1A):c.744G>A (p.Ala248=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2181046	NM_007074.4(CORO1A):c.255A>T (p.Leu85=)	CORO1A	Single nucleotide variant (synonymous variant)	CORO1A-related disorder +1 more	GLikely benign
Select item 2171279	NM_007074.4(CORO1A):c.1172C>T (p.Ser391Phe)	CORO1A (S391F)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2166108	NM_007074.4(CORO1A):c.39C>T (p.His13=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2166053	NM_007074.4(CORO1A):c.1210C>G (p.Leu404Val)	CORO1A (L404V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2149228	NM_007074.4(CORO1A):c.322-14C>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2146214	NM_007074.4(CORO1A):c.1080G>A (p.Gln360=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2144276	NM_007074.4(CORO1A):c.1065+13C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2139827	NM_007074.4(CORO1A):c.861+9G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2139598	NM_007074.4(CORO1A):c.1233C>T (p.Asp411=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2128209	NM_007074.4(CORO1A):c.103T>C (p.Trp35Arg)	CORO1A (W35R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2122452	NM_007074.4(CORO1A):c.188C>G (p.Pro63Arg)	CORO1A (P63R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2110773	NM_007074.4(CORO1A):c.321+5G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2107013	NM_007074.4(CORO1A):c.1124C>G (p.Thr375Arg)	CORO1A (T375R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2104536	NM_007074.4(CORO1A):c.517G>T (p.Glu173Ter)	CORO1A (E173*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 2101238	NM_007074.4(CORO1A):c.882C>T (p.Tyr294=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2097374	NM_007074.4(CORO1A):c.1098C>T (p.Pro366=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2093131	NM_007074.4(CORO1A):c.549C>G (p.Asp183Glu)	CORO1A, LOC121587541 (D183E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2091056	NM_007074.4(CORO1A):c.646C>T (p.Arg216Cys)	CORO1A, LOC121587541 (R216C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2090330	NM_007074.4(CORO1A):c.471G>T (p.Met157Ile)	CORO1A (M157I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2083489	NM_007074.4(CORO1A):c.82G>A (p.Val28Met)	CORO1A (V28M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2078530	NM_007074.4(CORO1A):c.322-5T>C	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2077201	NM_007074.4(CORO1A):c.1068G>A (p.Ser356=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2059123	NM_007074.4(CORO1A):c.534G>A (p.Thr178=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign

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