CORO1A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1014798	NM_007074.4(CORO1A):c.23C>T (p.Ser8Phe)	CORO1A (S8F)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2058817	NM_007074.4(CORO1A):c.35G>T (p.Arg12Leu)	CORO1A (R12L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely pathogenic
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 1086142	NM_007074.4(CORO1A):c.42G>C (p.Val14=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1126255	NM_007074.4(CORO1A):c.54G>A (p.Pro18=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 766725	NM_007074.4(CORO1A):c.54G>C (p.Pro18=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1090316	NM_007074.4(CORO1A):c.57C>T (p.Ala19=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1982150	NM_007074.4(CORO1A):c.63C>A (p.Ala21=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
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 717111	NM_007074.4(CORO1A):c.87C>T (p.Arg29=)	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 1389044	NM_007074.4(CORO1A):c.128A>G (p.Asn43Ser)	CORO1A (N43S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
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 3337965	NM_007074.4(CORO1A):c.143C>A (p.Ala48Asp)	CORO1A (A48D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1982899	NM_007074.4(CORO1A):c.195_198+13dup	CORO1A	Duplication (splice donor variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
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 1679822	NM_007074.4(CORO1A):c.189_190dup (p.Leu64fs)	CORO1A (L64fs)	Duplication (frameshift variant)	Sinoatrial node disorder	GLikely pathogenic
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 1931534	NM_007074.4(CORO1A):c.198+3G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
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 1652078	NM_007074.4(CORO1A):c.198+17C>T	CORO1A	Single nucleotide variant (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 2010199	NM_007074.4(CORO1A):c.199-20A>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1603607	NM_007074.4(CORO1A):c.199-18G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1576999	NM_007074.4(CORO1A):c.199-16C>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 1596915	NM_007074.4(CORO1A):c.199-12C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1095263	NM_007074.4(CORO1A):c.199-10G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1449323	NM_007074.4(CORO1A):c.205C>T (p.Arg69Cys)	CORO1A (R69C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1897564	NM_007074.4(CORO1A):c.221C>T (p.Ala74Val)	CORO1A (A74V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 541423	NM_007074.4(CORO1A):c.222G>A (p.Ala74=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 3269009	NM_007074.4(CORO1A):c.223C>T (p.Pro75Ser)	CORO1A (P75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1519775	NM_007074.4(CORO1A):c.227C>T (p.Thr76Met)	CORO1A (T76M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 715918	NM_007074.4(CORO1A):c.228G>A (p.Thr76=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1093403	NM_007074.4(CORO1A):c.237C>T (p.Gly79=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 40886	NM_007074.4(CORO1A):c.248_249del (p.Pro83fs)	CORO1A (P83fs)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
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 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 2049471	NM_007074.4(CORO1A):c.249T>A (p.Pro83=)	CORO1A	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 2181046	NM_007074.4(CORO1A):c.255A>T (p.Leu85=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1406340	NM_007074.4(CORO1A):c.259A>G (p.Ile87Val)	CORO1A (I87V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1548375	NM_007074.4(CORO1A):c.261C>T (p.Ile87=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1442291	NM_007074.4(CORO1A):c.263C>G (p.Ala88Gly)	CORO1A (A88G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1053147	NM_007074.4(CORO1A):c.272C>T (p.Pro91Leu)	CORO1A (P91L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1139535	NM_007074.4(CORO1A):c.273G>T (p.Pro91=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 843470	NM_007074.4(CORO1A):c.276C>A (p.His92Gln)	CORO1A (H92Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1115292	NM_007074.4(CORO1A):c.285C>T (p.Asn95=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 965382	NM_007074.4(CORO1A):c.286G>A (p.Val96Ile)	CORO1A (V96I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	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 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 1452393	NM_007074.4(CORO1A):c.314_315del (p.Thr105fs)	CORO1A (T105fs)	Microsatellite (frameshift variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
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 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 1491321	NM_007074.4(CORO1A):c.321+14G>A	CORO1A	Single nucleotide variant (intron 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 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 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 725376	NM_007074.4(CORO1A):c.322-4G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 744599	NM_007074.4(CORO1A):c.333C>A (p.Ile111=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 848350	NM_007074.4(CORO1A):c.339T>G (p.Asp113Glu)	CORO1A (D113E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 786565	NM_007074.4(CORO1A):c.346C>T (p.Leu116=)	CORO1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 651063	NM_007074.4(CORO1A):c.347T>C (p.Leu116Pro)	CORO1A (L116P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1930547	NM_007074.4(CORO1A):c.350T>C (p.Met117Thr)	CORO1A (M117T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2012805	NM_007074.4(CORO1A):c.352C>T (p.Leu118=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 3269007	NM_007074.4(CORO1A):c.356C>G (p.Pro119Arg)	CORO1A (P119R)	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 651336	NM_007074.4(CORO1A):c.362G>A (p.Arg121Gln)	CORO1A (R121Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1519678	NM_007074.4(CORO1A):c.365A>G (p.Glu122Gly)	CORO1A (E122G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1376036	NM_007074.4(CORO1A):c.367C>A (p.Pro123Thr)	CORO1A (P123T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1132131	NM_007074.4(CORO1A):c.369C>T (p.Pro123=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 939403	NM_007074.4(CORO1A):c.370G>A (p.Val124Ile)	CORO1A (V124I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 712387	NM_007074.4(CORO1A):c.372C>T (p.Val124=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GLikely benign
Select item 848351	NM_007074.4(CORO1A):c.373G>T (p.Val125Phe)	CORO1A (V125F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1421669	NM_007074.4(CORO1A):c.374T>C (p.Val125Ala)	CORO1A (V125A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 64645	NM_007074.4(CORO1A):c.400G>A (p.Val134Met)	CORO1A (V134M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 1565856	NM_007074.4(CORO1A):c.408T>C (p.Ile136=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1466045	NM_007074.4(CORO1A):c.435C>G (p.Asn145Lys)	CORO1A (N145K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 756653	NM_007074.4(CORO1A):c.435C>T (p.Asn145=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1388789	NM_007074.4(CORO1A):c.436G>A (p.Val146Met)	CORO1A (V146M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
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 827975	NM_007074.4(CORO1A):c.451+7C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GConflicting classifications of pathogenicity
Select item 791759	NM_007074.4(CORO1A):c.451+8G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GBenign
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 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 1541136	NM_007074.4(CORO1A):c.452-14_452-13del	CORO1A	Microsatellite (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1983578	NM_007074.4(CORO1A):c.452-12G>C	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 759085	NM_007074.4(CORO1A):c.452-7C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1141719	NM_007074.4(CORO1A):c.452-6G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 850657	NM_007074.4(CORO1A):c.460_462del (p.Asn154del)	CORO1A (N154del)	Deletion (inframe_deletion)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 729470	NM_007074.4(CORO1A):c.462C>T (p.Asn154=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1364917	NM_007074.4(CORO1A):c.463G>A (p.Val155Met)	CORO1A (V155M)	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 766153	NM_007074.4(CORO1A):c.480C>T (p.Asp160=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1905509	NM_007074.4(CORO1A):c.494C>T (p.Ala165Val)	CORO1A (A165V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
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 847883	NM_007074.4(CORO1A):c.500T>C (p.Met167Thr)	CORO1A (M167T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1402268	NM_007074.4(CORO1A):c.514C>G (p.Pro172Ala)	CORO1A (P172A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance

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