Related gene-specific medical variations for Gene (Select 11151) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1643983	NM_007074.4(CORO1A):c.756+11G>A	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1558245	NM_007074.4(CORO1A):c.756+12G>A	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1556302	NM_007074.4(CORO1A):c.729T>C (p.Ser243=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GLikely benign
Select item 1547684	NM_007074.4(CORO1A):c.637-14C>T	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1468284	NM_007074.4(CORO1A):c.637G>A (p.Glu213Lys)	LOC121587541, CORO1A (E213K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1463964	NM_007074.4(CORO1A):c.673C>T (p.Arg225Cys)	CORO1A, LOC121587541 (R225C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1442051	NM_007074.4(CORO1A):c.649C>A (p.Pro217Thr)	CORO1A, LOC121587541 (P217T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1425618	NM_007074.4(CORO1A):c.596G>A (p.Arg199His)	CORO1A, LOC121587541 (R199H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1146707	NM_007074.4(CORO1A):c.546G>A (p.Val182=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1146189	NM_007074.4(CORO1A):c.636+8G>A	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1102680	NM_007074.4(CORO1A):c.747G>A (p.Leu249=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1096301	NM_007074.4(CORO1A):c.720C>T (p.Ser240=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1095097	NM_007074.4(CORO1A):c.654C>T (p.His218=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1074667	NC_000016.9:g.(?_30196531)_30199897del	CORO1A	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 1026455	NM_007074.4(CORO1A):c.636+3G>C	CORO1A, LOC121587541	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1002221	NM_007074.4(CORO1A):c.580T>A (p.Ser194Thr)	CORO1A, LOC121587541 (S194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 998636	NM_007074.4(CORO1A):c.557G>A (p.Arg186Gln)	CORO1A, LOC121587541 (R186Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GUncertain significance
Select item 948936	NM_007074.4(CORO1A):c.685G>C (p.Val229Leu)	CORO1A, LOC121587541 (V229L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 934888	NM_007074.4(CORO1A):c.689C>T (p.Ser230Leu)	CORO1A, LOC121587541 (S230L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 933253	NM_007074.4(CORO1A):c.595C>T (p.Arg199Cys)	CORO1A, LOC121587541 (R199C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 794282	NM_007074.4(CORO1A):c.696G>A (p.Gly232=)	LOC121587541, CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 794033	NM_007074.4(CORO1A):c.636+9C>T	LOC121587541, CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 775108	NM_007074.4(CORO1A):c.738G>A (p.Gln246=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GBenign/Likely benign
Select item 755683	NM_007074.4(CORO1A):c.597C>T (p.Arg199=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 663029	NM_007074.4(CORO1A):c.674_677del (p.Arg225fs)	CORO1A, LOC121587541 (R225fs)	Microsatellite (frameshift variant)	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 654588	NM_007074.4(CORO1A):c.616C>T (p.Arg206Cys)	CORO1A, LOC121587541 (R206C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 575728	NM_007074.4(CORO1A):c.670G>A (p.Val224Met)	CORO1A, LOC121587541 (V224M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 474498	NM_007074.4(CORO1A):c.630C>T (p.Val210=)	CORO1A, LOC121587541	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign

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Items: 49