ClinVar for Gene (Select 6678) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 215

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379612	NM_003118.4(SPARC):c.437T>G (p.Ile146Ser)	SPARC (I145S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379611	NM_003118.4(SPARC):c.723C>A (p.His241Gln)	SPARC (H240Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3246326	NC_000005.9:g.(?_150632778)_(151304110_?)dup	ATOX1, FAT2 +7 more	Duplication	Hereditary hyperekplexia	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 3064133	NM_003118.4(SPARC):c.57+1G>C	SPARC	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 17	GPathogenic
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 3049227	NM_003118.4(SPARC):c.387G>A (p.Lys129=)	SPARC	Single nucleotide variant (synonymous variant)	SPARC-related disorder	GLikely benign
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 3030956	NM_003118.4(SPARC):c.209-4A>G	SPARC	Single nucleotide variant (intron variant)	SPARC-related disorder	GLikely benign
Select item 3021858	NM_003118.4(SPARC):c.252G>A (p.Glu84=)	SPARC	Single nucleotide variant (synonymous 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 3012814	NM_003118.4(SPARC):c.453C>T (p.Tyr151=)	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 2995618	NM_003118.4(SPARC):c.24C>T (p.Leu8=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990142	NM_003118.4(SPARC):c.120+17C>G	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 2970530	NM_003118.4(SPARC):c.279C>T (p.Cys93=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958729	NM_003118.4(SPARC):c.57T>C (p.Pro19=)	SPARC	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 17 +1 more	GConflicting classifications of pathogenicity
Select item 2920766	NM_003118.4(SPARC):c.114_115del	LOC126807556, SPARC	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2892693	NM_003118.4(SPARC):c.483C>T (p.Thr161=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878397	NM_003118.4(SPARC):c.249C>T (p.Cys83=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877233	NM_003118.4(SPARC):c.120+11A>G	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872637	NM_003118.4(SPARC):c.600T>C (p.His200=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872078	NM_003118.4(SPARC):c.303C>T (p.Cys101=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870739	NM_003118.4(SPARC):c.562C>T (p.Leu188=)	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 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 2851455	NM_003118.4(SPARC):c.120+16C>T	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 2843771	NM_003118.4(SPARC):c.330+14G>C	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803579	NM_003118.4(SPARC):c.452-18C>A	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802787	NM_003118.4(SPARC):c.121-18C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796767	NM_003118.4(SPARC):c.330+16C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2792197	NM_003118.4(SPARC):c.9C>A (p.Ala3=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790817	NM_003118.4(SPARC):c.58-6C>T	SPARC	Single nucleotide variant (intron 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 2788428	NM_003118.4(SPARC):c.843C>T (p.Ile281=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2779741	NM_003118.4(SPARC):c.121-5T>C	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765643	NM_003118.4(SPARC):c.120+9G>A	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764928	NM_003118.4(SPARC):c.330+10G>C	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2755402	NM_003118.4(SPARC):c.305C>A (p.Pro102Gln)	SPARC (P102Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733663	NM_003118.4(SPARC):c.209-14T>A	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731241	NM_003118.4(SPARC):c.339C>T (p.Ser113=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701188	NM_003118.4(SPARC):c.645G>A (p.Leu215=)	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 2601373	NM_003118.4(SPARC):c.238G>A (p.Gly80Ser)	SPARC (G79S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427846	NM_003118.4(SPARC):c.264C>G (p.Asn88Lys)	SPARC (N87K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424627	NC_000005.9:g.(?_150885126)_(151304110_?)dup	GLRA1, ATOX1 +3 more	Duplication	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 2278043	NM_003118.4(SPARC):c.323T>A (p.Phe108Tyr)	SPARC (F107Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226850	NM_003118.4(SPARC):c.307G>T (p.Ala103Ser)	SPARC (A103S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2192752	NM_003118.4(SPARC):c.519C>T (p.Asn173=)	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 2180690	NM_003118.4(SPARC):c.419A>G (p.Lys140Arg)	SPARC (K140R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2172774	NM_003118.4(SPARC):c.237C>T (p.His79=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164055	NM_003118.4(SPARC):c.37G>A (p.Gly13Arg)	SPARC (G13R)	Single nucleotide variant (missense variant)	not provided +1 more	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 2133844	NM_003118.4(SPARC):c.487T>A (p.Phe163Ile)	SPARC (F163I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133185	NM_003118.4(SPARC):c.522C>T (p.Val174=)	SPARC	Single nucleotide variant (synonymous 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 2130131	NM_003118.4(SPARC):c.663GAA[1] (p.Lys222del)	SPARC (K222del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2125734	NM_003118.4(SPARC):c.452-15G>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124815	NM_003118.4(SPARC):c.330+5G>A	SPARC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2119673	NM_003118.4(SPARC):c.3G>A (p.Met1Ile)	SPARC (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116299	NM_003118.4(SPARC):c.734+15C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112003	NM_003118.4(SPARC):c.401G>T (p.Gly134Val)	SPARC (G134V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111663	NM_003118.4(SPARC):c.120+4T>C	SPARC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2104529	NM_003118.4(SPARC):c.75T>C (p.Pro25=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103605	NM_003118.4(SPARC):c.209-3C>T	SPARC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2089310	NM_003118.4(SPARC):c.428T>C (p.Leu143Pro)	SPARC (L142P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083341	NM_003118.4(SPARC):c.58-8T>C	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081872	NM_003118.4(SPARC):c.460C>G (p.Pro154Ala)	SPARC (P153A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2081139	NM_003118.4(SPARC):c.208A>G (p.Asn70Asp)	SPARC (N69D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063215	NM_003118.4(SPARC):c.318C>T (p.Gly106=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 2032919	NM_003118.4(SPARC):c.108A>G (p.Ala36=)	SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029015	NM_003118.4(SPARC):c.400G>A (p.Gly134Ser)	SPARC (G133S +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 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 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 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 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 1983428	NM_003118.4(SPARC):c.73C>A (p.Pro25Thr)	SPARC (P25T +1 more)	Single nucleotide variant (missense variant)	not provided	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 1973792	NM_003118.4(SPARC):c.735-14C>T	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 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 1969304	NM_003118.4(SPARC):c.271C>T (p.Pro91Ser)	SPARC (P90S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1957342	NM_003118.4(SPARC):c.203C>T (p.Ala68Val)	SPARC (A68V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947369	NM_003118.4(SPARC):c.58-11C>G	SPARC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936772	NM_003118.4(SPARC):c.114G>C (p.Val38=)	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

<< First< Prev

Page of 3