"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PLOD1"[gen - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292249	NM_000302.3(PLOD1):c.-77G>A	PLOD1	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 841701	NM_000302.4(PLOD1):c.30G>A (p.Leu10=)	PLOD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 459806	NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)	PLOD1 (R42C +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 806064	NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys)	PLOD1 (R90C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440168	NM_000302.4(PLOD1):c.303C>T (p.Ser101=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 1879074	NM_000302.4(PLOD1):c.366C>T (p.Ser122=)	PLOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292282	NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser)	PLOD1 (G159S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 263963	NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)	PLOD1 (K185N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 871401	NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg)	PLOD1 (P190R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 806065	NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg)	PLOD1 (K247R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 264284	NM_000302.4(PLOD1):c.804C>T (p.Thr268=)	PLOD1	Single nucleotide variant (synonymous variant)	PLOD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 264103	NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 459805	NM_000302.4(PLOD1):c.1203-3C>T	PLOD1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1464216	NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln)	PLOD1 (R441Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1151384	NM_000302.4(PLOD1):c.1401G>A (p.Gln467=)	PLOD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 459807	NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT	PLOD1	Indel (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more	GConflicting classifications of pathogenicity
Select item 777072	NM_000302.4(PLOD1):c.1471-8C>T	PLOD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292304	NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)	PLOD1 (R499W +1 more)	Single nucleotide variant (missense variant)	PLOD1-related condition +4 more	GBenign/Likely benign
Select item 255801	NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)	PLOD1 (R512C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 451743	NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)	PLOD1 (Y556C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 292342	NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)	PLOD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1124925	NM_000302.4(PLOD1):c.1887C>T (p.Pro629=)	PLOD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 493021	NM_000302.4(PLOD1):c.1902G>A (p.Arg634=)	PLOD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 444156	NM_000302.4(PLOD1):c.1903-2A>G	PLOD1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 263957	NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)	PLOD1 (V643I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 14373	NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter)	PLOD1 (R670* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 647407	NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)	PLOD1 (H747R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1175731	NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del)	PLOD1 (F724del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 3027399	GRCh37/hg19 1p36.22(chr1:12020703-12027148)x3	PLOD1	Copy number gain	not provided	GPathogenic
Select item 3027392	GRCh37/hg19 1p36.22(chr1:12030727-12030873)x1	PLOD1	Copy number loss	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30