ClinVar for Gene (Select 64093) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320999	NM_001034852.3(SMOC1):c.547C>T (p.Pro183Ser)	SMOC1 (P183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320998	NM_001034852.3(SMOC1):c.376C>G (p.Gln126Glu)	SMOC1 (Q126E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166614	NM_001034852.3(SMOC1):c.858C>T (p.Arg286=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3166613	NM_001034852.3(SMOC1):c.576T>A (p.Asp192Glu)	SMOC1 (D192E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166612	NM_001034852.3(SMOC1):c.490G>C (p.Asp164His)	SMOC1 (D164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166611	NM_001034852.3(SMOC1):c.436A>G (p.Ile146Val)	SMOC1 (I146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166610	NM_001034852.3(SMOC1):c.355G>A (p.Gly119Ser)	SMOC1 (G119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166608	NM_001034852.3(SMOC1):c.32C>T (p.Thr11Met)	SMOC1 (T11M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166607	NM_001034852.3(SMOC1):c.132C>A (p.Asn44Lys)	SMOC1 (N44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040001	NM_001034852.3(SMOC1):c.981A>G (p.Leu327=)	SMOC1	Single nucleotide variant (synonymous variant)	SMOC1-related disorder	GLikely benign
Select item 3032615	NM_001034852.3(SMOC1):c.857+10C>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	SMOC1-related disorder	GLikely benign
Select item 3026644	NM_001034852.3(SMOC1):c.661del (p.Ser221fs)	SMOC1 (S221fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2986418	NM_001034852.3(SMOC1):c.402G>A (p.Gly134=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969481	NM_001034852.3(SMOC1):c.552G>A (p.Thr184=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968656	NM_001034852.3(SMOC1):c.1032C>T (p.Pro344=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966558	NM_001034852.3(SMOC1):c.378+11G>A	SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955818	NM_001034852.3(SMOC1):c.115C>T (p.Arg39Cys)	SMOC1 (R39C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915199	NM_001034852.3(SMOC1):c.882C>T (p.Ser294=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907008	NM_001034852.3(SMOC1):c.885C>T (p.Asp295=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888140	NM_001034852.3(SMOC1):c.67C>T (p.Pro23Ser)	SMOC1 (P23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777912	NM_001034852.3(SMOC1):c.266-15C>T	SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736124	NM_001034852.3(SMOC1):c.274C>T (p.Gln92Ter)	SMOC1 (Q92*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644344	NM_001034852.3(SMOC1):c.972C>T (p.Ile324=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554984	NM_001034852.3(SMOC1):c.1303G>A (p.Val435Ile)	SMOC1 (V434I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546972	NM_001034852.3(SMOC1):c.917C>G (p.Pro306Arg)	LOC126861980, SMOC1 (P306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515488	NM_001034852.3(SMOC1):c.18C>G (p.Cys6Trp)	SMOC1 (C6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514316	NM_001034852.3(SMOC1):c.1165C>T (p.Arg389Cys)	SMOC1 (R389C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496051	NM_001034852.3(SMOC1):c.728G>A (p.Arg243His)	LOC126861980, SMOC1 (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484504	NM_001034852.3(SMOC1):c.932A>T (p.Glu311Val)	LOC126861980, SMOC1 (E311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480172	NM_001034852.3(SMOC1):c.835C>T (p.Pro279Ser)	LOC126861980, SMOC1 (P279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	ACTN1, CCDC177 +13 more	Deletion	not provided	GPathogenic
Select item 2333422	NM_001034852.3(SMOC1):c.905A>G (p.Glu302Gly)	LOC126861980, SMOC1 (E302G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295789	NM_001034852.3(SMOC1):c.346C>T (p.Pro116Ser)	SMOC1 (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284672	NM_001034852.3(SMOC1):c.635A>G (p.Lys212Arg)	SMOC1 (K212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272396	NM_001034852.3(SMOC1):c.1239C>A (p.Asp413Glu)	SMOC1 (D413E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269216	NM_001034852.3(SMOC1):c.809G>A (p.Trp270Ter)	LOC126861980, SMOC1 (W270*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2269215	NM_001034852.3(SMOC1):c.248A>G (p.His83Arg)	SMOC1 (H83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257225	NM_001034852.3(SMOC1):c.296G>A (p.Arg99Gln)	SMOC1 (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254102	NM_001034852.3(SMOC1):c.251G>A (p.Arg84Gln)	SMOC1 (R84Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187422	NM_001034852.3(SMOC1):c.319A>C (p.Lys107Gln)	SMOC1 (K107Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2178015	NM_001034852.3(SMOC1):c.616T>C (p.Leu206=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162730	NM_001034852.3(SMOC1):c.478+6G>A	SMOC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2114871	NM_001034852.3(SMOC1):c.873T>C (p.Ser291=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114395	NM_001034852.3(SMOC1):c.1037G>T (p.Gly346Val)	SMOC1 (G346V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033665	NM_001034852.3(SMOC1):c.445del (p.Ser149fs)	SMOC1 (S149fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1990161	NM_001034852.3(SMOC1):c.1292-16T>C	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988877	NM_001034852.3(SMOC1):c.378+13A>C	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974382	NM_001034852.3(SMOC1):c.858-14C>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974380	NM_001034852.3(SMOC1):c.858-17T>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974379	NM_001034852.3(SMOC1):c.858-20_858-18del	LOC126861980, SMOC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1960198	NM_001034852.3(SMOC1):c.479G>C (p.Gly160Ala)	SMOC1 (G160A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1938150	NM_001034852.3(SMOC1):c.1083G>A (p.Glu361=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933640	NM_001034852.3(SMOC1):c.51G>A (p.Val17=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926785	NM_001034852.3(SMOC1):c.233C>T (p.Thr78Ile)	SMOC1 (T78I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925191	NM_001034852.3(SMOC1):c.584-14T>G	SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919960	NM_001034852.3(SMOC1):c.61C>T (p.Leu21=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909685	NM_001034852.3(SMOC1):c.235C>G (p.Leu79Val)	SMOC1 (L79V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897340	NM_001034852.3(SMOC1):c.189C>T (p.Tyr63=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1670269	NM_001034852.3(SMOC1):c.479-13C>A	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1642657	NM_001034852.3(SMOC1):c.360G>A (p.Glu120=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600422	NM_001034852.3(SMOC1):c.478+17C>T	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1592096	NM_001034852.3(SMOC1):c.664+9C>A	SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546662	NM_001034852.3(SMOC1):c.1131C>T (p.Asn377=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1436984	NM_001034852.3(SMOC1):c.190G>A (p.Glu64Lys)	SMOC1 (E64K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1325107	NM_001034852.3(SMOC1):c.584-2A>G	SMOC1	Single nucleotide variant (splice acceptor variant)	Microphthalmia with limb anomalies	GLikely pathogenic
Select item 1323630	NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter)	SMOC1 (S161*)	Single nucleotide variant (nonsense)	Microphthalmia with limb anomalies	GPathogenic
Select item 1297995	NM_001034852.3(SMOC1):c.479-87A>G	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285868	NC_000014.9:g.69879273T>A	SMOC1	Single nucleotide variant	not provided	GBenign
Select item 1281442	NM_001034852.3(SMOC1):c.583+180T>C	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279971	NC_000014.9:g.69879262T>A	SMOC1	Single nucleotide variant	not provided	GBenign
Select item 1273696	NM_001034852.3(SMOC1):c.1047-145C>G	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272486	NM_001034852.3(SMOC1):c.379-82A>G	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269947	NM_001034852.3(SMOC1):c.1047-240T>G	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269782	NM_001034852.3(SMOC1):c.858-27del	LOC126861980, SMOC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1265008	NM_001034852.3(SMOC1):c.1292-24_1292-23del	SMOC1	Deletion (intron variant)	not provided	GBenign
Select item 1264777	NM_001034852.3(SMOC1):c.1291+100A>G	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246926	NM_001034852.3(SMOC1):c.857+123A>G	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246879	NM_001034852.3(SMOC1):c.1291+208A>C	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245546	NM_001034852.3(SMOC1):c.1292-92C>T	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244958	NM_001034852.3(SMOC1):c.1046+94G>C	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233175	NM_001034852.3(SMOC1):c.858-26C>T	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230923	NM_001034852.3(SMOC1):c.-46G>A	SMOC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1228684	NM_001034852.3(SMOC1):c.1292-23dup	SMOC1	Duplication (intron variant)	not provided	GBenign
Select item 1224055	NM_001034852.3(SMOC1):c.1292-23del	SMOC1	Deletion (intron variant)	not provided	GBenign
Select item 1222669	NM_001034852.3(SMOC1):c.857+32C>T	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	Microphthalmia with limb anomalies +1 more	GBenign
Select item 1222405	NM_001034852.3(SMOC1):c.100-57G>A	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206252	NM_001034852.3(SMOC1):c.1135A>C (p.Ile379Leu)	SMOC1 (I379L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181412	NM_001034852.3(SMOC1):c.1046+73G>A	SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179798	NM_001034852.3(SMOC1):c.*80A>G	SMOC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 807139	NM_001034852.3(SMOC1):c.224G>A (p.Arg75Gln)	SMOC1 (R75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789815	NM_001034852.3(SMOC1):c.886G>A (p.Ala296Thr)	LOC126861980, SMOC1 (A296T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789814	NM_001034852.3(SMOC1):c.244G>A (p.Val82Met)	SMOC1 (V82M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785464	NM_001034852.3(SMOC1):c.982C>T (p.Leu328=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778483	NM_001034852.3(SMOC1):c.21C>T (p.Ala7=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 774910	NM_001034852.3(SMOC1):c.1062C>T (p.Asp354=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 769863	NM_001034852.3(SMOC1):c.103C>G (p.Leu35Val)	SMOC1 (L35V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 765053	NM_001034852.3(SMOC1):c.664+7A>T	SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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