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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361956	NM_000393.5(COL5A2):c.3806A>C (p.His1269Pro)	COL5A2 (H1269P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360561	NM_000393.5(COL5A2):c.419A>C (p.Gln140Pro)	COL5A2 (Q140P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359391	NM_000393.5(COL5A2):c.3074C>T (p.Thr1025Ile)	COL5A2 (T1025I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359309	NM_000393.5(COL5A2):c.542A>G (p.His181Arg)	COL5A2 (H181R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 25