ClinVar for MedGen (Select 815713) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2425683	NC_000016.9:g.(?_30199895)_(30237215_?)del	BOLA2B, CORO1A +2 more	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	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)	Severe combined immunodeficiency due to CORO1A deficiency	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
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 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 2048145	NM_007074.4(CORO1A):c.609C>T (p.Ile203=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2026509	NM_007074.4(CORO1A):c.878G>A (p.Arg293Gln)	CORO1A (R293Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2026144	NM_007074.4(CORO1A):c.1068G>C (p.Ser356=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
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 2011166	NM_007074.4(CORO1A):c.1195C>T (p.Pro399Ser)	CORO1A (P399S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
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 2000134	NM_007074.4(CORO1A):c.743C>T (p.Ala248Val)	LOC121587541, CORO1A (A248V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1995749	NM_007074.4(CORO1A):c.1249dup (p.Ala417fs)	CORO1A (A417fs)	Duplication (frameshift variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1994156	NM_007074.4(CORO1A):c.636+20G>A	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1992829	NM_007074.4(CORO1A):c.1156G>A (p.Gly386Arg)	CORO1A (G386R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1989556	NM_007074.4(CORO1A):c.672G>C (p.Val224=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1988316	NM_007074.4(CORO1A):c.1234A>G (p.Thr412Ala)	CORO1A (T412A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1985258	NM_007074.4(CORO1A):c.1023C>T (p.His341=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1984061	NM_007074.4(CORO1A):c.1100C>G (p.Thr367Ser)	CORO1A (T367S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
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 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 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 1966396	NM_007074.4(CORO1A):c.760C>T (p.His254Tyr)	CORO1A (H254Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1958473	NM_007074.4(CORO1A):c.1212G>A (p.Leu404=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1952682	NM_007074.4(CORO1A):c.757-18T>C	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1948336	NM_007074.4(CORO1A):c.1066-8G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1941269	NM_007074.4(CORO1A):c.1065+13del	CORO1A	Deletion (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GBenign
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 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 1924607	NM_007074.4(CORO1A):c.1127C>G (p.Ala376Gly)	CORO1A (A376G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1915086	NM_007074.4(CORO1A):c.1007+14G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1910780	NM_007074.4(CORO1A):c.1008-8T>A	CORO1A	Single nucleotide variant (intron 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 1902334	NM_007074.4(CORO1A):c.954C>A (p.Gly318=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign

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