ClinVar for Gene (Select 915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3140583	NM_000732.6(CD3D):c.461A>G (p.Asp154Gly)	CD3D (D110G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140582	NM_000732.6(CD3D):c.248A>G (p.Glu83Gly)	CD3D (E83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140579	NM_000732.6(CD3D):c.167C>G (p.Thr56Arg)	CD3D (T56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140578	NM_000732.6(CD3D):c.14C>T (p.Thr5Met)	CD3D (T5M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068902	NM_000732.6(CD3D):c.453_454del (p.Leu152fs)	CD3D (L108fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3003540	NM_000732.6(CD3D):c.55+16G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 3000531	NM_000732.6(CD3D):c.225G>A (p.Gly75=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2982303	NM_000732.6(CD3D):c.51G>C (p.Ser17=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2971957	NM_000732.6(CD3D):c.404G>A (p.Gly135Glu)	CD3D (G135E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 2967760	NM_000732.6(CD3D):c.406+14C>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2966146	NM_000732.6(CD3D):c.381A>C (p.Gly127=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2962597	NM_000732.6(CD3D):c.480C>T (p.Tyr160=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2960765	NM_000732.6(CD3D):c.327C>T (p.Val109=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2960196	NM_000732.6(CD3D):c.351C>T (p.Leu117=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2912701	NM_000732.6(CD3D):c.444C>G (p.Val148=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2909914	NM_000732.6(CD3D):c.407-7C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2909574	NM_000732.6(CD3D):c.274+16A>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2903627	NM_000732.6(CD3D):c.275-13C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2893415	NM_000732.6(CD3D):c.477G>A (p.Gln159=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2881716	NM_000732.6(CD3D):c.159A>T (p.Ser53=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2871336	NM_000732.6(CD3D):c.406+7G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2869561	NM_000732.6(CD3D):c.271C>T (p.Arg91Ter)	CD3D (R91*)	Single nucleotide variant (nonsense)	Immunodeficiency 19	GPathogenic
Select item 2865305	NM_000732.6(CD3D):c.108T>C (p.Asn36=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2860774	NM_000732.6(CD3D):c.48C>T (p.Leu16=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2859520	NM_000732.6(CD3D):c.407-10G>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2845934	NM_000732.6(CD3D):c.222T>C (p.Asn74=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2843821	NM_000732.6(CD3D):c.407-13C>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2839166	NM_000732.6(CD3D):c.300T>C (p.Asp100=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2838513	NM_000732.6(CD3D):c.406+12A>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2836217	NM_000732.6(CD3D):c.465A>C (p.Arg155=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2831423	NM_000732.6(CD3D):c.450+18G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2829609	NM_000732.6(CD3D):c.407-10G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2824653	NM_000732.6(CD3D):c.303A>G (p.Pro101=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2822781	NM_000732.6(CD3D):c.486C>T (p.His162=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2822544	NM_000732.6(CD3D):c.138A>C (p.Gly46=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2821002	NM_000732.6(CD3D):c.84A>G (p.Glu28=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2815726	NM_000732.6(CD3D):c.30G>A (p.Leu10=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2811315	NM_000732.6(CD3D):c.55+20G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2810710	NM_000732.6(CD3D):c.406+1G>T	CD3D	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 19	GLikely pathogenic
Select item 2804258	NM_000732.6(CD3D):c.275-9C>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2802159	NM_000732.6(CD3D):c.275-9C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2792778	NM_000732.6(CD3D):c.274+15A>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2778650	NM_000732.6(CD3D):c.56-15T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2777074	NM_000732.6(CD3D):c.451-7C>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2772341	NM_000732.6(CD3D):c.40_41dup (p.Leu15fs)	CD3D (L15fs)	Duplication (frameshift variant)	Immunodeficiency 19	GPathogenic
Select item 2772015	NM_000732.6(CD3D):c.346C>T (p.Leu116=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2771923	NM_000732.6(CD3D):c.27C>T (p.Gly9=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2769563	NM_000732.6(CD3D):c.51G>A (p.Ser17=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2767048	NM_000732.6(CD3D):c.451-18T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2766936	NM_000732.6(CD3D):c.15del (p.Leu7fs)	CD3D (L7fs)	Deletion (frameshift variant)	Immunodeficiency 19	GPathogenic
Select item 2765131	NM_000732.6(CD3D):c.407-18T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2759883	NM_000732.6(CD3D):c.274+2T>C	CD3D	Single nucleotide variant (splice donor variant)	Immunodeficiency 19	GLikely pathogenic
Select item 2754021	NM_000732.6(CD3D):c.237C>G (p.Tyr79Ter)	CD3D (Y79*)	Single nucleotide variant (nonsense)	Immunodeficiency 19	GPathogenic
Select item 2753154	NM_000732.6(CD3D):c.162C>T (p.Asp54=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2746145	NM_000732.6(CD3D):c.430A>C (p.Arg144=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2745999	NM_000732.6(CD3D):c.55+20del	CD3D	Deletion (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2743634	NM_000732.6(CD3D):c.274+18C>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2741424	NM_000732.6(CD3D):c.55+8T>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2740560	NM_000732.6(CD3D):c.399G>C (p.Leu133=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2739601	NM_000732.6(CD3D):c.18dup (p.Leu7fs)	CD3D (L7fs)	Duplication (frameshift variant)	Immunodeficiency 19	GPathogenic
Select item 2736334	NM_000732.6(CD3D):c.396G>A (p.Arg132=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2733308	NM_000732.6(CD3D):c.274+20T>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2717911	NM_000732.6(CD3D):c.384T>C (p.His128=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2716434	NM_000732.6(CD3D):c.451-12C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2704297	NM_000732.6(CD3D):c.406+14C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2701304	NM_000732.6(CD3D):c.411C>A (p.Ala137=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2697867	NM_000732.6(CD3D):c.9_10del (p.His3fs)	CD3D (H3fs)	Deletion (frameshift variant)	Immunodeficiency 19	GPathogenic
Select item 2691273	NM_000732.6(CD3D):c.107del (p.Asn36fs)	CD3D (N36fs)	Deletion (frameshift variant)	Severe combined immunodeficiency disease	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2605830	NM_000732.6(CD3D):c.210A>G (p.Ile70Met)	CD3D (I70M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460273	NM_000732.6(CD3D):c.188G>A (p.Arg63His)	CD3D (R63H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445767	NM_000732.6(CD3D):c.55+6G>C	CD3D	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2439818	NM_000732.6(CD3D):c.236A>G (p.Tyr79Cys)	CD3D (Y79C)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 2425706	NM_000732.6(CD3D):c.407-17C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2275702	NM_000732.6(CD3D):c.256G>A (p.Val86Met)	CD3D (V86M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192122	NM_000732.6(CD3D):c.451-8T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2173729	NM_000732.6(CD3D):c.213T>C (p.Tyr71=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2159334	NM_000732.6(CD3D):c.450+7G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2152873	NM_000732.6(CD3D):c.458G>A (p.Arg153Gln)	CD3D (R109Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 2150111	NM_000732.6(CD3D):c.344C>A (p.Thr115Asn)	CD3D (T115N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 2133775	NM_000732.6(CD3D):c.343A>C (p.Thr115Pro)	CD3D (T115P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 2133603	NM_000732.6(CD3D):c.407-19CT[3]	CD3D	Microsatellite (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2126383	NM_000732.6(CD3D):c.407C>G (p.Ala136Gly)	CD3D (A136G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 2116511	NM_000732.6(CD3D):c.174G>A (p.Leu58=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GUncertain significance
Select item 2115956	NM_000732.6(CD3D):c.451-9C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2098680	NM_000732.6(CD3D):c.275-19C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2024186	NM_000732.6(CD3D):c.55+20G>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2006756	NM_000732.6(CD3D):c.11G>A (p.Ser4Asn)	CD3D (S4N)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 1945367	NM_000732.6(CD3D):c.141G>A (p.Thr47=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 1929050	NM_000732.6(CD3D):c.56-16A>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 1904316	NM_000732.6(CD3D):c.233T>C (p.Ile78Thr)	CD3D (I78T)	Single nucleotide variant (missense variant)	Immunodeficiency 19 +1 more	GUncertain significance
Select item 1713613	NM_000732.6(CD3D):c.239A>G (p.Lys80Arg)	CD3D (K80R)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1662389	NM_000732.6(CD3D):c.453C>T (p.Pro151=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 1635601	NM_000732.6(CD3D):c.15G>A (p.Thr5=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign

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