ClinVar for Gene (Select 64478) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3078150	NM_033225.6(CSMD1):c.9776C>A (p.Ala3259Asp)	CSMD1, LOC105377785 (A3259D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078149	NM_033225.6(CSMD1):c.9638A>G (p.His3213Arg)	CSMD1, LOC105377785 (H3213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078148	NM_033225.6(CSMD1):c.9518A>G (p.Tyr3173Cys)	CSMD1, LOC105377785 (Y3173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078147	NM_033225.6(CSMD1):c.9265A>C (p.Lys3089Gln)	CSMD1, LOC105377785 (K3089Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078146	NM_033225.6(CSMD1):c.9241A>G (p.Lys3081Glu)	CSMD1, LOC105377785 (K3081E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078144	NM_033225.6(CSMD1):c.8954C>T (p.Thr2985Ile)	CSMD1, LOC105377785 (T2985I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078143	NM_033225.6(CSMD1):c.8818A>T (p.Ser2940Cys)	CSMD1, LOC105377785 (S2940C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078142	NM_033225.6(CSMD1):c.8571A>G (p.Ile2857Met)	CSMD1, LOC105377785 (I2857M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078141	NM_033225.6(CSMD1):c.8443G>C (p.Glu2815Gln)	LOC105377785, CSMD1 (E2815Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078140	NM_033225.6(CSMD1):c.8153G>A (p.Arg2718Lys)	CSMD1, LOC105377785 (R2718K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3078139	NM_033225.6(CSMD1):c.8137G>T (p.Val2713Leu)	CSMD1, LOC105377785 (V2713L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3078138	NM_033225.6(CSMD1):c.8057T>C (p.Ile2686Thr)	CSMD1, LOC105377785 (I2686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078137	NM_033225.6(CSMD1):c.781T>G (p.Phe261Val)	CSMD1 (F261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078136	NM_033225.6(CSMD1):c.7768C>G (p.Pro2590Ala)	CSMD1 (P2590A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078135	NM_033225.6(CSMD1):c.7646C>A (p.Pro2549Gln)	CSMD1 (P2549Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078134	NM_033225.6(CSMD1):c.763C>G (p.Leu255Val)	CSMD1 (L255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078133	NM_033225.6(CSMD1):c.7339A>G (p.Thr2447Ala)	CSMD1 (T2447A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078132	NM_033225.6(CSMD1):c.7228C>G (p.Leu2410Val)	CSMD1 (L2410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078131	NM_033225.6(CSMD1):c.7221G>T (p.Gln2407His)	CSMD1 (Q2407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078130	NM_033225.6(CSMD1):c.703A>G (p.Thr235Ala)	CSMD1 (T235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078129	NM_033225.6(CSMD1):c.7031C>G (p.Ser2344Cys)	CSMD1 (S2344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078128	NM_033225.6(CSMD1):c.677C>T (p.Ser226Leu)	CSMD1 (S226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078126	NM_033225.6(CSMD1):c.6650G>T (p.Ser2217Ile)	CSMD1 (S2217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078125	NM_033225.6(CSMD1):c.6598A>G (p.Ile2200Val)	CSMD1 (I2200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078124	NM_033225.6(CSMD1):c.6556A>G (p.Ile2186Val)	CSMD1 (I2186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078123	NM_033225.6(CSMD1):c.637C>T (p.Arg213Cys)	CSMD1 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078122	NM_033225.6(CSMD1):c.6178A>G (p.Thr2060Ala)	CSMD1 (T2060A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078121	NM_033225.6(CSMD1):c.6110C>G (p.Thr2037Ser)	CSMD1 (T2037S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078120	NM_033225.6(CSMD1):c.5950G>A (p.Val1984Met)	CSMD1 (V1984M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078119	NM_033225.6(CSMD1):c.5878G>C (p.Val1960Leu)	CSMD1 (V1960L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078117	NM_033225.6(CSMD1):c.5564C>G (p.Ser1855Cys)	CSMD1 (S1855C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078116	NM_033225.6(CSMD1):c.5556C>A (p.Asn1852Lys)	CSMD1 (N1852K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078115	NM_033225.6(CSMD1):c.540C>A (p.His180Gln)	CSMD1 (H180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078113	NM_033225.6(CSMD1):c.4865A>T (p.Asn1622Ile)	CSMD1 (N1622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078112	NM_033225.6(CSMD1):c.4726G>C (p.Val1576Leu)	CSMD1 (V1576L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078111	NM_033225.6(CSMD1):c.4651G>C (p.Gly1551Arg)	CSMD1 (G1551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078110	NM_033225.6(CSMD1):c.4607G>C (p.Ser1536Thr)	CSMD1 (S1536T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078108	NM_033225.6(CSMD1):c.4546C>G (p.Pro1516Ala)	CSMD1 (P1516A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078107	NM_033225.6(CSMD1):c.4451A>G (p.Asn1484Ser)	CSMD1 (N1484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078106	NM_033225.6(CSMD1):c.4381G>T (p.Val1461Phe)	CSMD1 (V1461F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078105	NM_033225.6(CSMD1):c.4243T>A (p.Phe1415Ile)	CSMD1 (F1415I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078104	NM_033225.6(CSMD1):c.4165G>T (p.Ala1389Ser)	CSMD1 (A1389S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078103	NM_033225.6(CSMD1):c.4105G>C (p.Asp1369His)	CSMD1 (D1369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078102	NM_033225.6(CSMD1):c.4052C>G (p.Ser1351Cys)	CSMD1 (S1351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078101	NM_033225.6(CSMD1):c.4018G>C (p.Asp1340His)	CSMD1 (D1340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078099	NM_033225.6(CSMD1):c.3854C>G (p.Thr1285Arg)	CSMD1 (T1285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078098	NM_033225.6(CSMD1):c.3824C>T (p.Ala1275Val)	CSMD1 (A1275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078097	NM_033225.6(CSMD1):c.3793G>A (p.Val1265Met)	CSMD1 (V1265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078096	NM_033225.6(CSMD1):c.3709G>C (p.Asp1237His)	CSMD1 (D1237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078095	NM_033225.6(CSMD1):c.3502C>G (p.Arg1168Gly)	CSMD1 (R1168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078094	NM_033225.6(CSMD1):c.3340A>G (p.Thr1114Ala)	CSMD1 (T1114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078093	NM_033225.6(CSMD1):c.3203C>T (p.Thr1068Met)	CSMD1 (T1068M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078091	NM_033225.6(CSMD1):c.3113C>T (p.Ser1038Leu)	CSMD1 (S1038L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078090	NM_033225.6(CSMD1):c.2750A>G (p.His917Arg)	CSMD1 (H917R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078089	NM_033225.6(CSMD1):c.2669G>C (p.Gly890Ala)	CSMD1 (G890A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078088	NM_033225.6(CSMD1):c.2669G>A (p.Gly890Asp)	CSMD1 (G890D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078087	NM_033225.6(CSMD1):c.2660G>C (p.Gly887Ala)	CSMD1 (G887A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078086	NM_033225.6(CSMD1):c.2654A>G (p.His885Arg)	CSMD1 (H885R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078085	NM_033225.6(CSMD1):c.2590G>A (p.Glu864Lys)	CSMD1 (E864K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078084	NM_033225.6(CSMD1):c.2384C>G (p.Ser795Cys)	CSMD1 (S795C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078083	NM_033225.6(CSMD1):c.2243G>C (p.Ser748Thr)	CSMD1 (S748T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078081	NM_033225.6(CSMD1):c.2228G>T (p.Gly743Val)	CSMD1 (G743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078080	NM_033225.6(CSMD1):c.2164C>G (p.His722Asp)	CSMD1 (H722D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078079	NM_033225.6(CSMD1):c.2133C>G (p.Asp711Glu)	CSMD1 (D711E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078078	NM_033225.6(CSMD1):c.2102G>A (p.Gly701Asp)	CSMD1 (G701D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078077	NM_033225.6(CSMD1):c.2084A>G (p.Asn695Ser)	CSMD1 (N695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078076	NM_033225.6(CSMD1):c.203A>G (p.Asn68Ser)	CSMD1 (N68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078074	NM_033225.6(CSMD1):c.1825A>T (p.Asn609Tyr)	CSMD1 (N609Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078073	NM_033225.6(CSMD1):c.1697C>G (p.Thr566Ser)	CSMD1 (T566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078072	NM_033225.6(CSMD1):c.1661C>T (p.Pro554Leu)	CSMD1 (P554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078070	NM_033225.6(CSMD1):c.148C>T (p.His50Tyr)	CSMD1 (H50Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078068	NM_033225.6(CSMD1):c.1382G>A (p.Arg461Gln)	CSMD1, LOC126860287 (R461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078067	NM_033225.6(CSMD1):c.1184C>G (p.Thr395Arg)	CSMD1 (T395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078065	NM_033225.6(CSMD1):c.106G>C (p.Val36Leu)	CSMD1 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078064	NM_033225.6(CSMD1):c.10649C>G (p.Ala3550Gly)	CSMD1, LOC105377785 (A3550G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078063	NM_033225.6(CSMD1):c.10531C>A (p.His3511Asn)	CSMD1, LOC105377785 (H3511N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078062	NM_033225.6(CSMD1):c.10363C>A (p.His3455Asn)	CSMD1, LOC105377785 (H3455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078061	NM_033225.6(CSMD1):c.10331A>G (p.Glu3444Gly)	CSMD1, LOC105377785 (E3444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078060	NM_033225.6(CSMD1):c.10294A>T (p.Asn3432Tyr)	CSMD1, LOC105377785 (N3432Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078059	NM_033225.6(CSMD1):c.10204A>G (p.Ile3402Val)	CSMD1, LOC105377785 (I3402V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078058	NM_033225.6(CSMD1):c.10170C>G (p.Ser3390Arg)	CSMD1, LOC105377785 (S3390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078056	NM_033225.6(CSMD1):c.10082A>T (p.Tyr3361Phe)	CSMD1, LOC105377785 (Y3361F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063036	GRCh37/hg19 8p23.2(chr8:4709512-4859238)x1	CSMD1	Copy number loss	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063018	GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061725	NM_033225.6(CSMD1):c.379G>T (p.Ala127Ser)	CSMD1 (A127S)	Single nucleotide variant (missense variant)	CSMD1-related condition	GUncertain significance
Select item 3060738	NM_033225.6(CSMD1):c.10107A>T (p.Gln3369His)	CSMD1, LOC105377785 (Q3369H)	Single nucleotide variant (missense variant)	CSMD1-related condition	GBenign
Select item 3058689	NM_033225.6(CSMD1):c.1561+5G>C	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related condition	GLikely benign
Select item 3058594	NM_033225.6(CSMD1):c.7285+5G>C	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related condition	GLikely benign
Select item 3058187	NM_033225.6(CSMD1):c.5466C>T (p.Tyr1822=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3058087	NM_033225.6(CSMD1):c.1562-8A>G	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related condition	GLikely benign
Select item 3056709	NM_033225.6(CSMD1):c.2744G>A (p.Arg915Lys)	CSMD1 (R915K)	Single nucleotide variant (missense variant)	CSMD1-related condition	GBenign
Select item 3053081	NM_033225.6(CSMD1):c.540C>T (p.His180=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3052991	NM_033225.6(CSMD1):c.659C>T (p.Ser220Phe)	CSMD1 (S220F)	Single nucleotide variant (missense variant)	CSMD1-related condition	GLikely benign
Select item 3052618	NM_033225.6(CSMD1):c.477G>A (p.Thr159=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3052396	NM_033225.6(CSMD1):c.1381C>A (p.Arg461=)	CSMD1, LOC126860287	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3051885	NM_033225.6(CSMD1):c.3744C>T (p.Tyr1248=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3051743	NM_033225.6(CSMD1):c.186C>T (p.Ile62=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign

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