11219[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 213

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1702066	NM_003118.4(SPARC):c.*582G>C	SPARC	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta	GBenign
Select item 1317768	NM_003118.4(SPARC):c.*148T>A	LOC126807556, SPARC	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2920766	NM_003118.4(SPARC):c.114_115del	LOC126807556, SPARC	Deletion (3 prime UTR variant +2 more)	Osteogenesis imperfecta type 17 +1 more	GLikely benign
Select item 1032875	NM_003118.4(SPARC):c.*55C>G	LOC126807556, SPARC (P322R)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 17	GUncertain significance
Select item 3031376	NM_003118.4(SPARC):c.*47C>T	LOC126807556, SPARC	Single nucleotide variant (3 prime UTR variant +1 more)	SPARC-related disorder	GLikely benign
Select item 1272922	NM_003118.4(SPARC):c.*29C>G	LOC126807556, SPARC	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1959323	NM_003118.4(SPARC):c.901C>G (p.Leu301Val)	LOC126807556, SPARC (S300C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779900	NM_003118.4(SPARC):c.899A>T (p.Asp300Val)	LOC126807556, SPARC (D299V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 733843	NM_003118.4(SPARC):c.891C>T (p.Ile297=)	LOC126807556, SPARC (R297*)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1291605	NM_003118.4(SPARC):c.884-53C>T	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316474	NM_003118.4(SPARC):c.884-140G>A	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316853	NM_003118.4(SPARC):c.883+106G>C	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969548	NM_003118.4(SPARC):c.883+9C>G	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014968	NM_003118.4(SPARC):c.883+7G>A	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054232	NM_003118.4(SPARC):c.873C>T (p.Gly291=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	SPARC-related disorder	GLikely benign
Select item 1598484	NM_003118.4(SPARC):c.870C>T (p.Phe290=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733348	NM_003118.4(SPARC):c.861C>T (p.Ala287=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 1989409	NM_003118.4(SPARC):c.844G>A (p.Ala282Thr)	LOC126807556, SPARC (A282T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788428	NM_003118.4(SPARC):c.843C>T (p.Ile281=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867830	NM_003118.4(SPARC):c.837G>A (p.Lys279=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346295	NM_003118.4(SPARC):c.826G>A (p.Asp276Asn)	LOC126807556, SPARC (D276N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156503	NM_003118.4(SPARC):c.822C>G (p.Asp274Glu)	LOC126807556, SPARC (D274E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 747118	NM_003118.4(SPARC):c.816C>A (p.Thr272=)	SPARC, LOC126807556	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508224	NM_003118.4(SPARC):c.811G>A (p.Glu271Lys)	LOC126807556, SPARC (E270K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716022	NM_003118.4(SPARC):c.810C>T (p.Phe270=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1385422	NM_003118.4(SPARC):c.803G>A (p.Arg268His)	LOC126807556, SPARC (R268H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491680	NM_003118.4(SPARC):c.802C>T (p.Arg268Cys)	LOC126807556, SPARC (R267C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603709	NM_003118.4(SPARC):c.795C>T (p.Cys265=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372141	NM_003118.4(SPARC):c.787G>A (p.Glu263Lys)	LOC126807556, SPARC (E263K +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 17	GPathogenic
Select item 1664444	NM_003118.4(SPARC):c.783C>T (p.Pro261=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046598	NM_003118.4(SPARC):c.782C>G (p.Pro261Arg)	LOC126807556, SPARC (P261R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997204	NM_003118.4(SPARC):c.781C>G (p.Pro261Ala)	LOC126807556, SPARC (P260A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347673	NM_003118.4(SPARC):c.778A>G (p.Ile260Val)	LOC126807556, SPARC (I260V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594661	NM_003118.4(SPARC):c.771T>C (p.Ala257=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969441	NM_003118.4(SPARC):c.766C>T (p.Arg256Cys)	LOC126807556, SPARC (R256C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410232	NM_003118.4(SPARC):c.761C>T (p.Pro254Leu)	LOC126807556, SPARC (P253L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1983392	NM_003118.4(SPARC):c.754C>T (p.Leu252=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360514	NM_003118.4(SPARC):c.751G>A (p.Glu251Lys)	LOC126807556, SPARC (E251K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2762023	NM_003118.4(SPARC):c.750C>A (p.Thr250=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200312	NM_003118.4(SPARC):c.750C>T (p.Thr250=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009401	NM_003118.4(SPARC):c.735-6C>T	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973792	NM_003118.4(SPARC):c.735-14C>T	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656241	NM_003118.4(SPARC):c.735-19C>T	LOC126807556, SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318123	NM_003118.4(SPARC):c.735-252G>A	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318020	NM_003118.4(SPARC):c.734+276G>A	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116299	NM_003118.4(SPARC):c.734+15C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983014	NM_003118.4(SPARC):c.734+14C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656564	NM_003118.4(SPARC):c.734+11A>C	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546832	NM_003118.4(SPARC):c.734+8C>G	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 785151	NM_003118.4(SPARC):c.733G>A (p.Gly245Arg)	SPARC (G244R +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 1934217	NM_003118.4(SPARC):c.732C>T (p.Asp244=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354120	NM_003118.4(SPARC):c.706G>A (p.Gly236Ser)	SPARC (G236S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929170	NM_003118.4(SPARC):c.705C>T (p.Phe235=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739301	NM_003118.4(SPARC):c.702G>A (p.Gln234=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018211	NM_003118.4(SPARC):c.689C>T (p.Pro230Leu)	SPARC (P229L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130131	NM_003118.4(SPARC):c.663GAA[1] (p.Lys222del)	SPARC (K222del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1646456	NM_003118.4(SPARC):c.666G>A (p.Lys222=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935971	NM_003118.4(SPARC):c.660C>T (p.Phe220=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598027	NM_003118.4(SPARC):c.657C>A (p.Asp219Glu)	SPARC (D218E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359328	NM_003118.4(SPARC):c.652C>T (p.Arg218Trp)	SPARC (R218W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2701188	NM_003118.4(SPARC):c.645G>A (p.Leu215=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733646	NM_003118.4(SPARC):c.633C>T (p.His211=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3351835	NM_003118.4(SPARC):c.615C>T (p.Arg205=)	SPARC	Single nucleotide variant (synonymous variant)	SPARC-related disorder	GLikely benign
Select item 1900190	NM_003118.4(SPARC):c.614G>T (p.Arg205Leu)	SPARC (R204L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438446	NM_003118.4(SPARC):c.604A>T (p.Asn202Tyr)	SPARC (N202Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3168142	NM_003118.4(SPARC):c.601G>A (p.Glu201Lys)	SPARC (E200K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2872637	NM_003118.4(SPARC):c.600T>C (p.His200=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790674	NM_003118.4(SPARC):c.586-6C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557061	NM_003118.4(SPARC):c.586-18C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133140	NM_003118.4(SPARC):c.586-19A>G	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316912	NM_003118.4(SPARC):c.586-37A>G	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296642	NM_003118.4(SPARC):c.586-268G>A	SPARC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266314	NM_003118.4(SPARC):c.585+298T>C	SPARC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316490	NM_003118.4(SPARC):c.585+124G>A	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237216	NM_003118.4(SPARC):c.585+100G>A	SPARC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1924256	NM_003118.4(SPARC):c.585+18C>A	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844067	NM_003118.4(SPARC):c.585+11T>C	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1477690	NM_003118.4(SPARC):c.585+1G>T	SPARC	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2043771	NM_003118.4(SPARC):c.583C>T (p.Arg195Trp)	SPARC (R195W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020605	NM_003118.4(SPARC):c.579G>A (p.Lys193=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187599	NM_003118.4(SPARC):c.571A>C (p.Lys191Gln)	SPARC (K190Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870739	NM_003118.4(SPARC):c.562C>T (p.Leu188=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367798	NM_003118.4(SPARC):c.553AAC[1] (p.Asn186del)	SPARC (N185del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2005907	NM_003118.4(SPARC):c.542G>T (p.Arg181Met)	SPARC (R181M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321826	NM_003118.4(SPARC):c.536A>T (p.Tyr179Phe)	SPARC (Y178F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1925222	NM_003118.4(SPARC):c.534G>C (p.Leu178=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133185	NM_003118.4(SPARC):c.522C>T (p.Val174=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505029	NM_003118.4(SPARC):c.520G>A (p.Val174Ile)	SPARC (V173I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192752	NM_003118.4(SPARC):c.519C>T (p.Asn173=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732215	NM_003118.4(SPARC):c.513C>G (p.Leu171=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693840	NM_003118.4(SPARC):c.503G>A (p.Arg168Gln)	SPARC (R167Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795326	NM_003118.4(SPARC):c.499A>C (p.Met167Leu)	SPARC (M167L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372140	NM_003118.4(SPARC):c.497G>A (p.Arg166His)	SPARC (R166H +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 17	GPathogenic
Select item 2859848	NM_003118.4(SPARC):c.490C>A (p.Pro164Thr)	SPARC (P163T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753913	NM_003118.4(SPARC):c.489C>T (p.Phe163=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133844	NM_003118.4(SPARC):c.487T>A (p.Phe163Ile)	SPARC (F163I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3