ClinVar for Gene (Select 1298) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1043

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247914	NC_000001.10:g.(?_40782775)_(40981338_?)dup	ZFP69B, COL9A2 +3 more	Duplication	not provided	GUncertain significance
Select item 3247913	NC_000001.10:g.(?_40767464)_(40768877_?)del	COL9A2	Deletion	not provided	GUncertain significance
Select item 3147835	NM_001852.4(COL9A2):c.1925C>T (p.Ser642Phe)	COL9A2 (S642F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147834	NM_001852.4(COL9A2):c.1902C>G (p.Asn634Lys)	COL9A2 (N634K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147833	NM_001852.4(COL9A2):c.1687C>T (p.Pro563Ser)	COL9A2 (P563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147832	NM_001852.4(COL9A2):c.1442G>A (p.Gly481Glu)	COL9A2 (G481E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3047663	NM_001852.4(COL9A2):c.1792+3G>T	COL9A2	Single nucleotide variant (intron variant)	COL9A2-related disorder	GUncertain significance
Select item 3044591	NM_001852.4(COL9A2):c.1272C>T (p.Gly424=)	COL9A2	Single nucleotide variant (synonymous variant)	COL9A2-related disorder	GLikely benign
Select item 3029702	NM_001852.4(COL9A2):c.1051C>T (p.Gln351Ter)	COL9A2 (Q351*)	Single nucleotide variant (nonsense)	COL9A2-related disorder	GLikely pathogenic
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, COL9A2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3023442	NM_001852.4(COL9A2):c.684G>A (p.Pro228=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3021497	NM_001852.4(COL9A2):c.374G>C (p.Gly125Ala)	COL9A2 (G125A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017748	NM_001852.4(COL9A2):c.1316G>A (p.Gly439Asp)	COL9A2 (G439D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017730	NM_001852.4(COL9A2):c.364-15C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017381	NM_001852.4(COL9A2):c.1548+18G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016285	NM_001852.4(COL9A2):c.705C>T (p.Gly235=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015486	NM_001852.4(COL9A2):c.417+10A>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015088	NM_001852.4(COL9A2):c.1380C>A (p.Gly460=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013366	NM_001852.4(COL9A2):c.832G>A (p.Glu278Lys)	COL9A2 (E278K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012507	NM_001852.4(COL9A2):c.1161+17A>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010435	NM_001852.4(COL9A2):c.1515C>T (p.Gly505=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009405	NM_001852.4(COL9A2):c.1300A>G (p.Lys434Glu)	COL9A2 (K434E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008706	NM_001852.4(COL9A2):c.1548+11C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008335	NM_001852.4(COL9A2):c.691C>T (p.Gln231Ter)	COL9A2 (Q231*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3007765	NM_001852.4(COL9A2):c.1107+12C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007278	NM_001852.4(COL9A2):c.847-23_847-19del	COL9A2	Deletion (intron variant)	not provided	GLikely benign
Select item 3005528	NM_001852.4(COL9A2):c.340-1G>C	COL9A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3005046	NM_001852.4(COL9A2):c.1975G>C (p.Gly659Arg)	COL9A2 (G659R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004871	NM_001852.4(COL9A2):c.1054-1G>A	COL9A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3004693	NM_001852.4(COL9A2):c.376C>T (p.Pro126Ser)	COL9A2 (P126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996569	NM_001852.4(COL9A2):c.471+16C>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993665	NM_001852.4(COL9A2):c.1368+7G>C	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990939	NM_001852.4(COL9A2):c.585G>A (p.Ala195=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2986880	NM_001852.4(COL9A2):c.811G>A (p.Gly271Arg)	COL9A2 (G271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986879	NM_001852.4(COL9A2):c.520-4C>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985851	NM_001852.4(COL9A2):c.576+10C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981613	NM_001852.4(COL9A2):c.1369-9T>C	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976440	NM_001852.4(COL9A2):c.986G>C (p.Ser329Thr)	COL9A2 (S329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975978	NM_001852.4(COL9A2):c.1235del (p.Gly412fs)	COL9A2 (G412fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2973967	NM_001852.4(COL9A2):c.684+15G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973117	NM_001852.4(COL9A2):c.319C>G (p.Pro107Ala)	COL9A2 (P107A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972477	NM_001852.4(COL9A2):c.1288-16T>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971882	NM_001852.4(COL9A2):c.418-15T>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971399	NM_001852.4(COL9A2):c.730G>A (p.Gly244Arg)	COL9A2 (G244R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969668	NM_001852.4(COL9A2):c.1422C>T (p.Pro474=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967642	NM_001852.4(COL9A2):c.1881C>A (p.Gly627=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967466	NM_001852.4(COL9A2):c.1577dup (p.Asp527fs)	COL9A2 (D527fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2966439	NM_001852.4(COL9A2):c.592C>T (p.Arg198Cys)	COL9A2 (R198C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965998	NM_001852.4(COL9A2):c.1054-19G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964842	NM_001852.4(COL9A2):c.1883_1891dup (p.Gly630_Gln631insArgProGly)	COL9A2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2964548	NM_001852.4(COL9A2):c.549A>G (p.Lys183=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963940	NM_001852.4(COL9A2):c.1350C>G (p.Pro450=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962421	NM_001852.4(COL9A2):c.384C>G (p.Gly128=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960287	NM_001852.4(COL9A2):c.304-8T>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958385	NM_001852.4(COL9A2):c.471+17C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957356	NM_001852.4(COL9A2):c.815C>T (p.Pro272Leu)	COL9A2 (P272L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955030	NM_001852.4(COL9A2):c.516C>T (p.Phe172=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915755	NM_001852.4(COL9A2):c.905C>G (p.Pro302Arg)	COL9A2 (P302R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903162	NM_001852.4(COL9A2):c.1287+6A>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2903157	NM_001852.4(COL9A2):c.2048C>G (p.Pro683Arg)	COL9A2 (P683R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895073	NM_001852.4(COL9A2):c.1688C>T (p.Pro563Leu)	COL9A2 (P563L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2893000	NM_001852.4(COL9A2):c.1858C>T (p.Pro620Ser)	COL9A2 (P620S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892696	NM_001852.4(COL9A2):c.1324-8C>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2881974	NM_001852.4(COL9A2):c.1401+7C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879590	NM_001852.4(COL9A2):c.924G>A (p.Lys308=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879218	NM_001852.4(COL9A2):c.1604-19C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879049	NM_001852.4(COL9A2):c.902G>C (p.Gly301Ala)	COL9A2 (G301A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878388	NM_001852.4(COL9A2):c.1234G>A (p.Gly412Ser)	COL9A2 (G412S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877733	NM_001852.4(COL9A2):c.900G>A (p.Thr300=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2877551	NM_001852.4(COL9A2):c.630+1G>A	COL9A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2876767	NM_001852.4(COL9A2):c.684+8_684+10del	COL9A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2876108	NM_001852.4(COL9A2):c.1951C>G (p.Arg651Gly)	COL9A2 (R651G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875128	NM_001852.4(COL9A2):c.1041C>A (p.Gly347=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874549	NM_001852.4(COL9A2):c.773T>C (p.Ile258Thr)	COL9A2 (I258T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873306	NM_001852.4(COL9A2):c.75+14C>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872832	NM_001852.4(COL9A2):c.673C>T (p.Pro225Ser)	COL9A2 (P225S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872070	NM_001852.4(COL9A2):c.1870+10dup	COL9A2	Duplication (intron variant)	not provided	GLikely benign
Select item 2872002	NM_001852.4(COL9A2):c.808A>G (p.Arg270Gly)	COL9A2 (R270G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871206	NM_001852.4(COL9A2):c.1216-18_1216-15dup	COL9A2	Duplication (intron variant)	not provided	GLikely benign
Select item 2871097	NM_001852.4(COL9A2):c.1503C>A (p.Ala501=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867195	NM_001852.4(COL9A2):c.471+2T>A	COL9A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2866233	NM_001852.4(COL9A2):c.519+3GA[2]	COL9A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2865744	NM_001852.4(COL9A2):c.279C>G (p.Gly93=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862891	NM_001852.4(COL9A2):c.738+15G>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2859586	NM_001852.4(COL9A2):c.1145G>A (p.Gly382Asp)	COL9A2 (G382D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857657	NM_001852.4(COL9A2):c.1232A>G (p.Gln411Arg)	COL9A2 (Q411R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856971	NM_001852.4(COL9A2):c.541G>T (p.Gly181Ter)	COL9A2 (G181*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2856386	NM_001852.4(COL9A2):c.576+11C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854375	NM_001852.4(COL9A2):c.1575C>G (p.Ile525Met)	COL9A2 (I525M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850833	NM_001852.4(COL9A2):c.1095C>G (p.Pro365=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848910	NM_001852.4(COL9A2):c.1161+10T>C	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847146	NM_001852.4(COL9A2):c.1324-18C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847092	NM_001852.4(COL9A2):c.493G>A (p.Gly165Ser)	COL9A2 (G165S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847090	NM_001852.4(COL9A2):c.1955C>T (p.Pro652Leu)	COL9A2 (P652L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845742	NM_001852.4(COL9A2):c.1161+13C>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845184	NM_001852.4(COL9A2):c.839G>A (p.Gly280Asp)	COL9A2 (G280D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844799	NM_001852.4(COL9A2):c.271G>C (p.Glu91Gln)	COL9A2 (E91Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 11