C0426790[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 523237	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Severe global developmental delay +7 more	GPathogenic
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1 +31 more	GPathogenic
Select item 523401	NM_001378615.1(CC2D2A):c.1149+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	Joubert syndrome 9 +8 more	GPathogenic/Likely pathogenic
Select item 56312	NM_001378615.1(CC2D2A):c.4179+1del	CC2D2A	Deletion (splice donor variant)	Joubert syndrome 9 +17 more	GPathogenic
Select item 523327	NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)	COL5A1, LOC101448202 (E1772K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GUncertain significance
Select item 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 523400	NM_001377.3(DYNC2H1):c.9614A>G (p.Gln3205Arg)	DYNC2H1 (Q3205R)	Single nucleotide variant (missense variant)	Clinodactyly +4 more	GUncertain significance
Select item 374100	NM_001377.3(DYNC2H1):c.10461+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Narrow chest +2 more	GPathogenic
Select item 374117	NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)	COL2A1 (G1158R +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +2 more	GLikely pathogenic
Select item 523352	NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)	PKD1 (Q4004R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease +3 more	GUncertain significance
Select item 257000	NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)	PKD1 (R2477C)	Single nucleotide variant (missense variant)	Narrow chest +5 more	GConflicting classifications of pathogenicity