"AiLife Diagnostics, AiLife Diagnostics"[submitter] AND "COL5A1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1677563	NM_000093.5(COL5A1):c.487_488delinsTT (p.Gly163Phe)	COL5A1 (G163F)	Indel (missense variant)	not provided	GUncertain significance
Select item 1677593	NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu)	COL5A1 (P495L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 529259	NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)	COL5A1 (G757S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 430270	NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)	COL5A1 (G940S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212953	NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)	COL5A1 (G997S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 459669	NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu)	COL5A1 (P1020L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1677831	NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala)	COL5A1 (P1041A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1015104	NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His)	COL5A1 (P1109H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1677601	NM_000093.5(COL5A1):c.3415C>T (p.Pro1139Ser)	COL5A1 (P1139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969838	NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu)	COL5A1 (G1159E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1677668	NM_000093.5(COL5A1):c.3575G>A (p.Gly1192Asp)	COL5A1 (G1192D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678332	NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser)	COL5A1 (G1300S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 863028	NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)	COL5A1 (G1459S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1316041	NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser)	COL5A1 (G1471S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 851542	NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)	COL5A1, LOC101448202 (P1523H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1677946	NM_000093.5(COL5A1):c.4685C>G (p.Pro1562Arg)	COL5A1, LOC101448202 (P1562R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677883	NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg)	COL5A1, LOC101448202 (H1646R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1018148	NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)	COL5A1, LOC101448202 (T1798M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1677825	NM_000093.5(COL5A1):c.5492T>C (p.Val1831Ala)	COL5A1, LOC101448202 (V1831A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 20