"Center for Human Genetics, Inc, Center for Human Genetics, Inc"[submi - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 199689	NM_000090.4(COL3A1):c.114C>G (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 199690	NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)	COL3A1 (A40V)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 254961	NM_000090.4(COL3A1):c.219C>T (p.Asp73=)	COL3A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 388541	NM_000090.4(COL3A1):c.528+12T>C	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 101448	NM_000090.4(COL3A1):c.636+5G>A	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 199713	NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)	COL3A1 (P236S)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 101349	NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 161215	NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	COL3A1 (R271Q)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 459757	NM_000090.4(COL3A1):c.1128C>T (p.His376=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 136842	NM_000090.4(COL3A1):c.1150-13T>C	COL3A1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 547265	NM_000090.4(COL3A1):c.1609-17T>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 547266	NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys)	COL3A1 (G582C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 195847	NM_000090.4(COL3A1):c.1815+5G>A	COL3A1	Single nucleotide variant (intron variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 561290	NM_000090.4(COL3A1):c.1815+16C>T	COL3A1	Single nucleotide variant (intron variant)	Connective tissue disorder	GLikely benign
Select item 35963	NM_000090.4(COL3A1):c.1816-19T>C	COL3A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 547267	NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg)	COL3A1 (K629R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 547268	NM_000090.4(COL3A1):c.1924-8C>A	COL3A1	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 199726	NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)	COL3A1 (P668T)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 427009	NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg)	COL3A1 (G918R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 136854	NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)	COL3A1	Single nucleotide variant (synonymous variant)	COL3A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 547269	NM_000090.4(COL3A1):c.2824-9C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 547270	NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)	COL3A1 (R992H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 547271	NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp)	COL3A1 (G1023D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 459783	NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)	COL3A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 197477	NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)	COL3A1 (A1045T)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 547272	NM_000090.4(COL3A1):c.3201+10C>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GConflicting classifications of pathogenicity
Select item 199705	NM_000090.4(COL3A1):c.3525+19del	COL3A1	Deletion (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 547273	NM_000090.4(COL3A1):c.3526-10C>T	COL3A1	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 547274	NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp)	COL3A1 (G1176D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 161218	NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	COL3A1 (K1313R)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity

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Items: 30