C4760307[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047474	NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)	COL11A1 (G1757R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1418086	NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	COL11A1 (L1531P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 291505	NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	COL11A1 (G1408S +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +6 more	GConflicting classifications of pathogenicity
Select item 1179083	NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	COL11A1 (G1280C +3 more)	Single nucleotide variant (missense variant +1 more)	Intervertebral disc disorder +4 more	GLikely pathogenic
Select item 1380051	NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile)	COL11A1 (T1353I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1169323	NM_001854.4(COL11A1):c.4032+16A>G	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1627745	NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Intervertebral disc disorder +6 more	GLikely benign
Select item 291512	NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)	COL11A1 (P1275L +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 1038628	NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	COL11A1 (G1243V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1477869	NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu)	COL11A1 (D1086E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1206960	NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)	COL11A1 (A1023E +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +6 more	GConflicting classifications of pathogenicity
Select item 258446	NM_001854.4(COL11A1):c.2611-4C>T	COL11A1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 1357917	NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	COL11A1 (R762Q +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +5 more	GConflicting classifications of pathogenicity
Select item 281428	NM_001854.4(COL11A1):c.2241+6T>C	COL11A1	Single nucleotide variant (intron variant)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 1324096	NM_001854.4(COL11A1):c.1245+1G>A	COL11A1	Single nucleotide variant (splice donor variant +1 more)	Intervertebral disc disorder +5 more	GPathogenic/Likely pathogenic
Select item 258473	NM_001854.4(COL11A1):c.651+16A>G	COL11A1	Single nucleotide variant (intron variant)	Marshall syndrome +6 more	GBenign
Select item 1314615	NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser)	COL11A1 (P189S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1356260	NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)	COL11A1 (K185del)	Microsatellite (inframe_deletion +1 more)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 291550	NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)	COL11A1 (A44T)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +7 more	GBenign/Likely benign