"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC101448202"[ - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683090	NM_000093.5(COL5A1):c.4651A>G (p.Thr1551Ala)	COL5A1, LOC101448202 (T1551A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212986	NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)	COL5A1, LOC101448202 (P1553L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 220985	NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)	LOC101448202, COL5A1 (I1573V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1163910	NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)	COL5A1, LOC101448202 (R1584Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 212988	NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)	COL5A1, LOC101448202 (R1585W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2683664	NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)	COL5A1, LOC101448202 (G1607fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 213062	NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)	COL5A1, LOC101448202 (A1636T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 180299	NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)	COL5A1, LOC101448202 (Q1643R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1381159	NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg)	COL5A1, LOC101448202 (G1676R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 213064	NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr)	COL5A1, LOC101448202 (S1687Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1694017	NM_000093.5(COL5A1):c.5167G>C (p.Val1723Leu)	COL5A1, LOC101448202 (V1723L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843180	NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)	COL5A1, LOC101448202 (R1732W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 523327	NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)	COL5A1, LOC101448202 (E1772K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GUncertain significance
Select item 1163911	NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser)	COL5A1, LOC101448202 (G1788S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 459713	NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)	COL5A1, LOC101448202 (V1813M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity