ClinVar for Gene (Select 6497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368771	NM_003036.4(SKI):c.81C>G (p.Ser27Arg)	SKI (S27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368581	NM_003036.4(SKI):c.225C>G (p.His75Gln)	SKI (H75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367946	NM_003036.4(SKI):c.529A>C (p.Ile177Leu)	SKI (I177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367457	NM_003036.4(SKI):c.2186A>G (p.Ter729Trp)	SKI	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3366028	NM_003036.4(SKI):c.2011C>T (p.Gln671Ter)	SKI (Q671*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3365064	NM_003036.4(SKI):c.1588G>C (p.Ala530Pro)	SKI (A530P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363643	NM_003036.4(SKI):c.2130G>A (p.Trp710Ter)	SKI (W710*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3361235	NM_003036.4(SKI):c.1963_1974dup (p.Arg658_Leu659insGluAlaGlyArg)	SKI	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3359441	NM_003036.4(SKI):c.2156G>A (p.Gly719Asp)	SKI (G719D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358973	NM_003036.4(SKI):c.486A>C (p.Lys162Asn)	SKI (K162N)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3345814	NM_003036.4(SKI):c.164C>A (p.Ala55Glu)	SKI (A55E)	Single nucleotide variant (missense variant)	SKI-related disorder	GUncertain significance
Select item 3340981	NM_003036.4(SKI):c.502C>T (p.Pro168Ser)	SKI (P168S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340770	NM_003036.4(SKI):c.1652G>A (p.Gly551Asp)	SKI (G551D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340267	NM_003036.4(SKI):c.*17C>A	SKI	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3340191	NM_003036.4(SKI):c.218T>G (p.Val73Gly)	SKI (V73G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3338582	NM_003036.4(SKI):c.1492T>C (p.Ser498Pro)	SKI (S498P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3318712	NM_003036.4(SKI):c.1650G>T (p.Glu550Asp)	SKI (E550D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318711	NM_003036.4(SKI):c.1634T>C (p.Leu545Pro)	SKI (L545P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318710	NM_003036.4(SKI):c.442A>T (p.Ile148Phe)	SKI (I148F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318709	NM_003036.4(SKI):c.1857C>T (p.Leu619=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318708	NM_003036.4(SKI):c.2062C>T (p.Leu688=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318707	NM_003036.4(SKI):c.1164G>C (p.Ala388=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318706	NM_003036.4(SKI):c.309C>T (p.Thr103=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318705	NM_003036.4(SKI):c.1975C>G (p.Leu659Val)	SKI (L659V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318704	NM_003036.4(SKI):c.262G>C (p.Gly88Arg)	SKI (G88R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318703	NM_003036.4(SKI):c.332C>G (p.Ser111Trp)	SKI (S111W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318702	NM_003036.4(SKI):c.1558G>A (p.Ala520Thr)	SKI (A520T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318700	NM_003036.4(SKI):c.14C>G (p.Ala5Gly)	SKI (A5G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318699	NM_003036.4(SKI):c.1633C>T (p.Leu545=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318698	NM_003036.4(SKI):c.441C>T (p.His147=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3257344	NM_003036.4(SKI):c.406C>T (p.Leu136=)	SKI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254611	NM_003036.4(SKI):c.1855C>T (p.Leu619Phe)	SKI (L619F)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3252506	NM_003036.4(SKI):c.2177_2181delinsAGCT (p.Leu726fs)	SKI (L726fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3247933	NC_000001.10:g.(?_1718770)_(2343941_?)del	CALML6, CFAP74 +9 more	Deletion	not provided	GPathogenic
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	ACTRT2, ARHGEF16 +38 more	Duplication	not provided	GUncertain significance
Select item 3247721	NC_000001.10:g.(?_2160206)_(2161194_?)dup	SKI	Duplication	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3223076	NM_003036.4(SKI):c.967C>T (p.Arg323Trp)	SKI (R323W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223075	NM_003036.4(SKI):c.875C>T (p.Thr292Met)	SKI (T292M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223074	NM_003036.4(SKI):c.64G>A (p.Glu22Lys)	SKI (E22K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223073	NM_003036.4(SKI):c.567G>A (p.Leu189=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223072	NM_003036.4(SKI):c.472C>T (p.Leu158=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223071	NM_003036.4(SKI):c.422C>T (p.Ala141Val)	SKI (A141V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223070	NM_003036.4(SKI):c.375G>A (p.Gln125=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223069	NM_003036.4(SKI):c.326C>T (p.Thr109Ile)	SKI (T109I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223068	NM_003036.4(SKI):c.249G>A (p.Pro83=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223067	NM_003036.4(SKI):c.2151T>C (p.Ala717=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223066	NM_003036.4(SKI):c.2147A>T (p.Glu716Val)	SKI (E716V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223065	NM_003036.4(SKI):c.200C>A (p.Ala67Asp)	SKI (A67D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223064	NM_003036.4(SKI):c.199G>A (p.Ala67Thr)	SKI (A67T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223063	NM_003036.4(SKI):c.192G>T (p.Val64=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223062	NM_003036.4(SKI):c.1917G>C (p.Arg639=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223060	NM_003036.4(SKI):c.177G>T (p.Ala59=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223059	NM_003036.4(SKI):c.1675A>C (p.Lys559Gln)	SKI (K559Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223058	NM_003036.4(SKI):c.159G>A (p.Lys53=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223057	NM_003036.4(SKI):c.1439C>G (p.Ser480Trp)	SKI (S480W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223056	NM_003036.4(SKI):c.1420C>T (p.Pro474Ser)	SKI (P474S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223055	NM_003036.4(SKI):c.1407G>A (p.Ala469=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223054	NM_003036.4(SKI):c.1403T>A (p.Leu468Gln)	SKI (L468Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223053	NM_003036.4(SKI):c.1357C>T (p.Arg453Trp)	SKI (R453W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223052	NM_003036.4(SKI):c.1325C>A (p.Ala442Asp)	SKI (A442D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223051	NM_003036.4(SKI):c.12G>A (p.Ala4=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223050	NM_003036.4(SKI):c.1294A>T (p.Ser432Cys)	SKI (S432C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223049	NM_003036.4(SKI):c.1272G>T (p.Pro424=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223048	NM_003036.4(SKI):c.1220C>T (p.Ser407Phe)	SKI (S407F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223047	NM_003036.4(SKI):c.1003A>C (p.Lys335Gln)	SKI (K335Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3162610	NM_003036.4(SKI):c.38C>T (p.Pro13Leu)	SKI (P13L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3162609	NM_003036.4(SKI):c.134A>C (p.Glu45Ala)	SKI (E45A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3162608	NM_003036.4(SKI):c.1274C>T (p.Ala425Val)	SKI (A425V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3162607	NM_003036.4(SKI):c.119C>T (p.Ala40Val)	SKI (A40V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3162606	NM_003036.4(SKI):c.1019C>A (p.Ser340Tyr)	SKI (S340Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3061185	NM_003036.4(SKI):c.2002G>A (p.Glu668Lys)	SKI (E668K)	Single nucleotide variant (missense variant)	SKI-related disorder	GUncertain significance
Select item 3059134	NM_003036.4(SKI):c.1665C>T (p.Thr555=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3053178	NM_003036.4(SKI):c.1131T>C (p.Ser377=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder	GLikely benign
Select item 3033674	NM_003036.4(SKI):c.1784G>A (p.Arg595His)	SKI (R595H)	Single nucleotide variant (missense variant)	SKI-related disorder	GUncertain significance
Select item 3032779	NM_003036.4(SKI):c.2156_2173dup (p.Ala724_Glu725insGlySerGluGlyAlaAla)	SKI	Duplication	SKI-related disorder	GUncertain significance
Select item 3031309	NM_003036.4(SKI):c.2115G>T (p.Leu705=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder	GLikely benign
Select item 3027309	NM_003036.4(SKI):c.259C>T (p.Pro87Ser)	SKI (P87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022401	NM_003036.4(SKI):c.1104C>T (p.Gly368=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3020437	NM_003036.4(SKI):c.1768-8G>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3018068	NM_003036.4(SKI):c.1482C>T (p.Ser494=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3016426	NM_003036.4(SKI):c.718C>G (p.Pro240Ala)	SKI (P240A)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3015585	NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)	SKI (R634Q)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3009122	NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)	SKI (T505I)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3007694	NM_003036.4(SKI):c.1230C>T (p.Ser410=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3006042	NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)	SKI (A686G)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3003430	NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)	SKI (F492S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2998173	NM_003036.4(SKI):c.1326C>T (p.Ala442=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2992218	NM_003036.4(SKI):c.2166C>T (p.Gly722=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2991624	NM_003036.4(SKI):c.453G>A (p.Ser151=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2990592	NM_003036.4(SKI):c.468C>T (p.Asp156=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2986918	NM_003036.4(SKI):c.1601C>T (p.Ala534Val)	SKI (A534V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2985150	NM_003036.4(SKI):c.1998+1G>T	SKI	Single nucleotide variant (splice donor variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2984013	NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)	SKI (P465L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2982161	NM_003036.4(SKI):c.763C>T (p.Pro255Ser)	SKI (P255S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2980506	NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)	SKI (L393F)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2978014	NM_003036.4(SKI):c.525G>A (p.Gly175=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign

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