Related gene-specific medical variations for Gene (Select 1290) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067905	NM_000393.5(COL5A2):c.970G>A (p.Gly324Ser)	COL5A2 (G324S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 2664068	NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)	COL5A2 (P220R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 2627760	NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)	COL5A2 (G1077fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 2579127	NM_000393.5(COL5A2):c.2662-2A>G	COL5A2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 2440336	NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)	COL5A2 (A844V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 1809745	NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)	COL5A2 (P1473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526939	GRCh37/hg19 2q32.2(chr2:189895110-189961917)	COL5A2	Copy number gain	not specified	GUncertain significance
Select item 1324127	NM_000393.5(COL5A2):c.98-1G>T	COL5A2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 1319446	NM_000393.5(COL5A2):c.3226G>C (p.Ala1076Pro)	COL5A2 (A1076P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994434	NM_000393.5(COL5A2):c.1404T>C (p.Gly468=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 993408	NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly)	COL5A2 (C1405G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 932005	NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)	COL5A2 (M1244T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931920	NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)	COL5A2 (K1353E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931340	NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931040	NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)	COL5A2 (P1219L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 870138	NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)	COL5A2 (G1164R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 636833	NM_000393.5(COL5A2):c.2494A>C (p.Asn832His)	COL5A2 (N832H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636443	NM_000393.5(COL5A2):c.2970G>A (p.Gly990=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 636380	NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser)	COL5A2 (P1037S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256002	NM_000393.5(COL5A2):c.3891T>C (p.Asp1297=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 255995	NM_000393.5(COL5A2):c.1105-3T>C	COL5A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255994	NM_000393.5(COL5A2):c.*19G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign

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Links from Gene

Items: 22