Related gene-specific medical variations for Gene (Select 1298) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247913	NC_000001.10:g.(?_40767464)_(40768877_?)del	COL9A2	Deletion	not provided	GUncertain significance
Select item 3065674	NM_001852.4(COL9A2):c.1162G>A (p.Gly388Ser)	COL9A2 (G388S)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2	GLikely pathogenic
Select item 2886362	NM_001852.4(COL9A2):c.86C>T (p.Pro29Leu)	COL9A2, LOC129930261 (P29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862548	NM_001852.4(COL9A2):c.104C>G (p.Pro35Arg)	COL9A2, LOC129930261 (P35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828759	NM_001852.4(COL9A2):c.328C>A (p.Pro110Thr)	COL9A2, LOC129930257 (P110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826398	NM_001852.4(COL9A2):c.93G>A (p.Glu31=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824617	NM_001852.4(COL9A2):c.102C>G (p.Pro34=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777111	NM_001852.4(COL9A2):c.135A>T (p.Gly45=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576897	NM_001852.4(COL9A2):c.108_116del (p.34PPG[2])	COL9A2, LOC129930261	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2442741	NM_001852.4(COL9A2):c.337C>T (p.Pro113Ser)	COL9A2, LOC129930257 (P113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182321	NM_001852.4(COL9A2):c.80G>T (p.Gly27Val)	COL9A2, LOC129930261 (G27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120439	NM_001852.4(COL9A2):c.105G>A (p.Pro35=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093882	NM_001852.4(COL9A2):c.329C>T (p.Pro110Leu)	COL9A2, LOC129930257 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090870	NM_001852.4(COL9A2):c.150+19A>G	COL9A2, LOC129930260	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029127	NM_001852.4(COL9A2):c.76-15G>C	COL9A2, LOC129930261	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001934	NM_001852.4(COL9A2):c.100C>T (p.Pro34Ser)	COL9A2, LOC129930261 (P34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995106	NM_001852.4(COL9A2):c.339+19G>A	COL9A2, LOC129930257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989109	NM_001852.4(COL9A2):c.76-8T>C	COL9A2, LOC129930261	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982512	NM_001852.4(COL9A2):c.76-15G>A	COL9A2, LOC129930261	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974080	NM_001852.4(COL9A2):c.338C>T (p.Pro113Leu)	COL9A2, LOC129930257 (P113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1959510	NM_001852.4(COL9A2):c.339+14G>C	COL9A2, LOC129930257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959013	NM_001852.4(COL9A2):c.104del (p.Pro35fs)	COL9A2, LOC129930261 (P35fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1943240	NM_001852.4(COL9A2):c.150+9C>T	COL9A2, LOC129930260	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912255	NM_001852.4(COL9A2):c.121C>G (p.Pro41Ala)	COL9A2, LOC129930261 (P41A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897297	NM_001852.4(COL9A2):c.99C>A (p.Gly33=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674488	NM_001852.4(COL9A2):c.76-11G>T	COL9A2, LOC129930261	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655108	NM_001852.4(COL9A2):c.150+13C>T	COL9A2, LOC129930260	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653966	NM_001852.4(COL9A2):c.99C>T (p.Gly33=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644317	NM_001852.4(COL9A2):c.339+16A>T	COL9A2, LOC129930257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584659	NM_001852.4(COL9A2):c.150+7C>G	COL9A2, LOC129930260	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573476	NM_001852.4(COL9A2):c.339+18G>A	COL9A2, LOC129930257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559249	NM_001852.4(COL9A2):c.76-18C>T	COL9A2, LOC129930261	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549943	NM_001852.4(COL9A2):c.94C>A (p.Arg32=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511173	NM_001852.4(COL9A2):c.127G>A (p.Val43Met)	COL9A2, LOC129930261 (V43M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509580	NM_001852.4(COL9A2):c.339G>A (p.Pro113=)	COL9A2, LOC129930257	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1495919	NM_001852.4(COL9A2):c.134_136del (p.Gly45_Ser46delinsAla)	COL9A2, LOC129930261	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1480073	NM_001852.4(COL9A2):c.122C>T (p.Pro41Leu)	COL9A2, LOC129930261 (P41L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399314	NM_001852.4(COL9A2):c.80G>A (p.Gly27Asp)	COL9A2, LOC129930261 (G27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377508	NM_001852.4(COL9A2):c.109C>T (p.Pro37Ser)	COL9A2, LOC129930261 (P37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204660	NM_001852.4(COL9A2):c.124G>A (p.Gly42Arg)	COL9A2, LOC129930261 (G42R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1149450	NM_001852.4(COL9A2):c.335T>G (p.Leu112Arg)	COL9A2, LOC129930257 (L112R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931612	NM_001852.4(COL9A2):c.1555G>C (p.Asp519His)	COL9A2 (D519H)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 876392	NM_001852.4(COL9A2):c.88G>A (p.Gly30Arg)	COL9A2, LOC129930261 (G30R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 733446	NM_001852.4(COL9A2):c.138C>A (p.Ser46=)	COL9A2, LOC129930261	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 683424	NM_001852.4(COL9A2):c.150+273C>T	COL9A2, LOC129930259	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512184	NM_001852.4(COL9A2):c.150+9C>G	COL9A2, LOC129930260	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 377322	NM_001852.4(COL9A2):c.25C>G (p.Arg9Gly)	COL9A2 (R9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258372	NM_001852.4(COL9A2):c.1368+10C>T	COL9A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 195153	NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)	COL9A2, LOC129930261 (R32Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 29645	NM_001852.4(COL9A2):c.843_846+4del	COL9A2	Deletion (splice donor variant)	Stickler syndrome, type 5	GPathogenic

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Items: 50