Related gene-specific medical variations for Gene (Select 6678) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3014968	NM_003118.4(SPARC):c.883+7G>A	LOC126807556, SPARC	Single nucleotide variant (intron 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 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 2867830	NM_003118.4(SPARC):c.837G>A (p.Lys279=)	LOC126807556, SPARC	Single nucleotide variant (synonymous 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 2762023	NM_003118.4(SPARC):c.750C>A (p.Thr250=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2200312	NM_003118.4(SPARC):c.750C>T (p.Thr250=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 1664444	NM_003118.4(SPARC):c.783C>T (p.Pro261=)	LOC126807556, SPARC	Single nucleotide variant (synonymous 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 1603709	NM_003118.4(SPARC):c.795C>T (p.Cys265=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided	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 1594661	NM_003118.4(SPARC):c.771T>C (p.Ala257=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	SPARC-related disorder +1 more	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 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 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 1360514	NM_003118.4(SPARC):c.751G>A (p.Glu251Lys)	SPARC, LOC126807556 (E251K +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	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 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 1317768	NM_003118.4(SPARC):c.*148T>A	LOC126807556, SPARC	Single nucleotide variant (3 prime UTR 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 1316474	NM_003118.4(SPARC):c.884-140G>A	LOC126807556, SPARC	Single nucleotide variant (intron variant)	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 1272922	NM_003118.4(SPARC):c.*29C>G	LOC126807556, SPARC	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 747118	NM_003118.4(SPARC):c.816C>A (p.Thr272=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	SPARC-related disorder +1 more	GLikely benign
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 733348	NM_003118.4(SPARC):c.861C>T (p.Ala287=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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

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Links from Gene

Items: 43