C1864746[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178604	NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)	COL11A2 (R1600Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +8 more	GBenign/Likely benign
Select item 1613061	NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 508771	NM_080680.3(COL11A2):c.4230+13C>G	COL11A2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GLikely benign
Select item 162981	NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)	COL11A2 (P1347Q +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 17128	NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)	COL11A2 (R1224* +2 more)	Single nucleotide variant (nonsense)	Fibrochondrogenesis 2 +5 more	GPathogenic
Select item 356387	NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	COL11A2 (E1295K +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 1187127	NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn)	COL11A2 (D1152N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GUncertain significance
Select item 391897	NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro)	COL11A2 (T1097P +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 423882	NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)	COL11A2 (R1020* +2 more)	Single nucleotide variant (nonsense)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GPathogenic/Likely pathogenic
Select item 1555440	NM_080680.3(COL11A2):c.2737-4C>T	COL11A2	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1405947	NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys)	COL11A2 (E681K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GUncertain significance
Select item 162992	NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln)	COL11A2 (R729Q +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +7 more	GBenign/Likely benign
Select item 1524943	NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)	COL11A2 (T469A +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1302953	NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val)	COL11A2 (A300V +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GUncertain significance
Select item 198609	NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)	COL11A2 (G297S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1403624	NM_080680.3(COL11A2):c.362G>A (p.Arg121His)	COL11A2 (R121H)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GUncertain significance
Select item 1206629	NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys)	COL11A2 (R93C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GUncertain significance