ClinVar for MedGen (Select 400602) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687174	NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)	COL11A2 (G1325* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 53	GLikely pathogenic
Select item 1613061	NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=)	COL11A2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GLikely benign
Select item 1555440	NM_080680.3(COL11A2):c.2737-4C>T	COL11A2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GLikely 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 1405947	NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys)	COL11A2 (E681K +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GUncertain significance
Select item 1403624	NM_080680.3(COL11A2):c.362G>A (p.Arg121His)	COL11A2 (R121H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GUncertain significance
Select item 1302953	NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val)	COL11A2 (A300V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1206629	NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys)	COL11A2 (R93C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1187127	NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn)	COL11A2 (D1152N +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1175704	NM_080680.3(COL11A2):c.4550A>G (p.Asp1517Gly)	COL11A2 (D1410G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 813821	NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)	COL11A2 (G1129R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813820	NM_080680.3(COL11A2):c.968dup (p.Ala324fs)	COL11A2 (A324fs)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 53	GLikely pathogenic
Select item 812160	NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)	COL11A2 (P603S +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 675092	NM_080680.3(COL11A2):c.877-34C>T	COL11A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674799	NM_080680.3(COL11A2):c.4339-49G>T	COL11A2	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GBenign
Select item 674781	NM_080680.3(COL11A2):c.3853-39G>A	COL11A2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GBenign
Select item 634526	NM_080680.3(COL11A2):c.2754del (p.Gly919fs)	COL11A2 (G812fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 53	GLikely pathogenic
Select item 508771	NM_080680.3(COL11A2):c.4230+13C>G	COL11A2	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GLikely benign
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Heart, malformation of +8 more	GConflicting classifications of pathogenicity
Select item 424385	NM_080680.3(COL11A2):c.798+67C>T	COL11A2 (P289S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423882	NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)	COL11A2 (R1020* +2 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
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 356387	NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	COL11A2 (E1295K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +6 more	GConflicting classifications of pathogenicity
Select item 262310	NM_080680.3(COL11A2):c.2682+26A>C	COL11A2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 262309	NM_080680.3(COL11A2):c.2484+22C>G	COL11A2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 226535	NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +7 more	GBenign
Select item 225318	NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)	COL11A2 (G230W)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 218349	NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr)	COL11A2 (P888T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53	GPathogenic
Select item 198609	NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)	COL11A2 (G297S +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
Select item 178927	NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	COL11A2 (A974V +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 178604	NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)	COL11A2 (R1600Q +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +8 more	GBenign/Likely benign
Select item 178321	NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)	COL11A2 (R1667H +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 162992	NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln)	COL11A2 (R729Q +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +7 more	GBenign/Likely benign
Select item 162981	NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)	COL11A2 (P1347Q +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +6 more	GConflicting classifications of pathogenicity
Select item 160366	NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)	COL11A2 (A37S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 46570	NM_080680.3(COL11A2):c.877-4T>A	COL11A2	Single nucleotide variant (intron variant)	Fibrochondrogenesis 2 +8 more	GBenign
Select item 46569	NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys)	COL11A2 (E276K)	Single nucleotide variant (missense variant +1 more)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +7 more	GBenign
Select item 46566	NM_080680.3(COL11A2):c.3313-11C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46565	NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46564	NM_080680.3(COL11A2):c.3150+15A>C	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46562	NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46560	NM_080680.3(COL11A2):c.2628+3G>A	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46558	NM_080680.3(COL11A2):c.2136A>T (p.Gly712=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46555	NM_080680.3(COL11A2):c.1360-7A>C	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 17129	NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)	COL11A2 (P621T +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +3 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)	not provided +5 more	GPathogenic

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Items: 46