ClinVar for MedGen (Select 433160) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369325	NC_000002.12:g.20012707G>T	MATN3	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 369261	NC_000019.10:g.18782760C>G	COMP	Single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GLikely benign
Select item 357807	NM_001851.6(COL9A1):c.1342-16dup	COL9A1	Duplication (intron variant)	Multiple Epiphyseal Dysplasia, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 357795	NM_001851.6(COL9A1):c.*174T>C	COL9A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler Syndrome, Recessive +1 more	GUncertain significance
Select item 357793	NM_001851.6(COL9A1):c.*242dup	COL9A1	Duplication (3 prime UTR variant +1 more)	Stickler Syndrome, Recessive +2 more	GBenign
Select item 357792	NM_001851.6(COL9A1):c.*247dup	COL9A1	Duplication (3 prime UTR variant +1 more)	Stickler Syndrome, Recessive +1 more	GUncertain significance
Select item 339321	NM_001853.4(COL9A3):c.*409C>T	COL9A3, TCFL5	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance
Select item 339319	NM_001853.4(COL9A3):c.*319A>C	TCFL5, COL9A3	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance
Select item 339299	NM_001853.4(COL9A3):c.1604-13T>C	COL9A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 339278	NM_001853.4(COL9A3):c.800G>A (p.Arg267Gln)	COL9A3 (R267Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 333410	NM_002381.5(MATN3):c.*176C>T	MATN3, WDR35 +1 more	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5 +4 more	GBenign
Select item 333407	NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)	MATN3, WDR35 (Q18R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +6 more	GBenign/Likely benign
Select item 258647	NM_002381.5(MATN3):c.1406-4C>T	MATN3, WDR35 +1 more	Single nucleotide variant (intron variant)	Multiple Epiphyseal Dysplasia, Dominant +5 more	GBenign/Likely benign