C0268338[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619227	NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)	COL3A1 (P49A)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GLikely pathogenic
Select item 17219	NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg)	COL3A1 (G136R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17228	NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 101425	NM_000090.4(COL3A1):c.582+5G>A	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17220	NM_000090.4(COL3A1):c.582+6T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17207	NM_000090.4(COL3A1):c.650_1663-83del	COL3A1, MIR3606	Deletion (splice acceptor variant +1 more)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17208	NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 17229	NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)	COL3A1 (G297R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 17203	NM_000090.4(COL3A1):c.1149+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 619225	NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)	COL3A1 (R428*)	Single nucleotide variant (nonsense)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GPathogenic
Select item 17202	NM_000090.4(COL3A1):c.1347+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 17211	NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17225	NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related condition +2 more	GPathogenic
Select item 17212	NM_000090.4(COL3A1):c.1761+5G>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 242648	NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)	COL3A1 (R596*)	Single nucleotide variant (nonsense)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GPathogenic
Select item 17222	NM_000090.4(COL3A1):c.1869+5G>A	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17223	NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 17205	NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	COL3A1 (A698T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GBenign
Select item 17227	NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser)	COL3A1	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 17200	NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)	COL3A1, LOC126806446	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17199	NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)	COL3A1, LOC126806446	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17214	NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del)	COL3A1	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17206	NM_000090.4(COL3A1):c.2553+5G>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 17224	NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val)	COL3A1 (G960V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17213	NM_000090.4(COL3A1):c.2931+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17215	NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17204	NM_000090.4(COL3A1):c.3093+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17231	NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17201	NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp)	COL3A1 (G1050D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17209	NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17226	NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu)	COL3A1 (G1101E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17217	NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 17216	NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)	COL3A1	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 17218	NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17210	COL3A1, GLY373ARG	COL3A1	Variation	Ehlers-Danlos syndrome, type 4	GPathogenic

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Items: 35