ClinVar for Gene (Select 1297) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1259

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338129	NM_001851.6(COL9A1):c.1396-891A>T	COL9A1	Single nucleotide variant (intron variant)	Hereditary disease	GLikely benign
Select item 3268872	NM_001851.6(COL9A1):c.2045G>T (p.Gly682Val)	COL9A1 (G682V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3236347	NM_001851.6(COL9A1):c.976-1G>A	COL9A1	Single nucleotide variant (splice acceptor variant)	Epiphyseal dysplasia, multiple, 6	GUncertain significance
Select item 3147831	NM_001851.6(COL9A1):c.37G>A (p.Val13Met)	COL9A1 (V13M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147830	NM_001851.6(COL9A1):c.2432G>A (p.Gly811Asp)	COL9A1 (G519D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147829	NM_001851.6(COL9A1):c.2015C>A (p.Pro672Gln)	COL9A1 (P672Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075984	NM_001851.6(COL9A1):c.1029del (p.Gly344fs)	COL9A1 (G101fs +1 more)	Deletion (frameshift variant +1 more)	Stickler syndrome	GLikely pathogenic
Select item 3061492	NM_001851.6(COL9A1):c.167-4A>T	COL9A1	Single nucleotide variant (intron variant)	COL9A1-related disorder	GLikely benign
Select item 3057004	NM_001851.6(COL9A1):c.781-137G>A	COL9A1	Single nucleotide variant (5 prime UTR variant +2 more)	COL9A1-related disorder	GLikely benign
Select item 3036119	NM_001851.6(COL9A1):c.1342-7T>G	COL9A1	Single nucleotide variant (intron variant)	COL9A1-related disorder	GLikely benign
Select item 3035527	NM_001851.6(COL9A1):c.1342-8_1342-7del	COL9A1	Deletion (intron variant)	COL9A1-related disorder	GLikely benign
Select item 3031297	NM_001851.6(COL9A1):c.654T>A (p.Ala218=)	COL9A1	Single nucleotide variant (synonymous variant)	COL9A1-related disorder	GLikely benign
Select item 3020479	NM_001851.6(COL9A1):c.1765-16T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018494	NM_001851.6(COL9A1):c.658C>T (p.Leu220=)	COL9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016862	NM_001851.6(COL9A1):c.1252G>A (p.Gly418Ser)	COL9A1 (G418S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015548	NM_001851.6(COL9A1):c.913-9C>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014757	NM_001851.6(COL9A1):c.1143+13G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014756	NM_001851.6(COL9A1):c.1143+14_1143+15insACTTGATA	COL9A1	Insertion (intron variant)	not provided	GLikely benign
Select item 3012896	NM_001851.6(COL9A1):c.781-16A>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006636	NM_001851.6(COL9A1):c.781-13T>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006496	NM_001851.6(COL9A1):c.1230+7T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006332	NM_001851.6(COL9A1):c.802-20A>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002568	NM_001851.6(COL9A1):c.2035-8A>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002163	NM_001851.6(COL9A1):c.976-16T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001389	NM_001851.6(COL9A1):c.697-15A>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000467	NM_001851.6(COL9A1):c.1144-14T>C	COL9A1, LOC129996692	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000290	NM_001851.6(COL9A1):c.780+18C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998288	NM_001851.6(COL9A1):c.2163G>T (p.Gly721=)	COL9A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2996480	NM_001851.6(COL9A1):c.426T>G (p.Val142=)	COL9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995614	NM_001851.6(COL9A1):c.2581+6T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993820	NM_001851.6(COL9A1):c.1179T>A (p.Pro393=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992497	NM_001851.6(COL9A1):c.1198-10T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990024	NM_001851.6(COL9A1):c.2315-13T>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988930	NM_001851.6(COL9A1):c.913-15T>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988431	NM_001851.6(COL9A1):c.1068C>A (p.Gly356=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984326	NM_001851.6(COL9A1):c.1956C>T (p.Gly652=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979910	NM_001851.6(COL9A1):c.924del (p.Glu309fs)	COL9A1 (E309fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2978433	NM_001851.6(COL9A1):c.1197+19G>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976300	NM_001851.6(COL9A1):c.299+8A>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973325	NM_001851.6(COL9A1):c.2225G>T (p.Gly742Val)	COL9A1 (G742V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2972290	NM_001851.6(COL9A1):c.913-4T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965057	NM_001851.6(COL9A1):c.1052C>T (p.Ser351Leu)	COL9A1 (S108L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907950	NM_001851.6(COL9A1):c.2751A>G (p.Lys917=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889330	NM_001851.6(COL9A1):c.2532C>T (p.Gly844=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881299	NM_001851.6(COL9A1):c.1714T>C (p.Leu572=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878016	NM_001851.6(COL9A1):c.2582-16C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877734	NM_001851.6(COL9A1):c.876+20C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877702	NM_001851.6(COL9A1):c.912+19A>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875930	NM_001851.6(COL9A1):c.984A>G (p.Thr328=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870888	NM_001851.6(COL9A1):c.975+18G>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865084	NM_001851.6(COL9A1):c.1449+10T>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859241	NM_001851.6(COL9A1):c.1144-8T>A	COL9A1, LOC129996692	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858614	NM_001851.6(COL9A1):c.2112+17G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857412	NM_001851.6(COL9A1):c.2582-11GT[2]	COL9A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2857016	NM_001851.6(COL9A1):c.877-8C>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854315	NM_001851.6(COL9A1):c.2316A>G (p.Glu772=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851395	NM_001851.6(COL9A1):c.867_875dup (p.Gly293_Asp294insIleAspGly)	COL9A1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2849128	NM_001851.6(COL9A1):c.2581+9G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843054	NM_001851.6(COL9A1):c.1765-13A>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836717	NM_001851.6(COL9A1):c.604G>T (p.Glu202Ter)	COL9A1 (E202*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2824562	NM_001851.6(COL9A1):c.1999-3C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2824465	NM_001851.6(COL9A1):c.2315-12A>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824331	NM_001851.6(COL9A1):c.802A>T (p.Arg268Ter)	COL9A1 (R25* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2823283	NM_001851.6(COL9A1):c.1181dup (p.Gly397fs)	COL9A1, LOC129996692 (G154fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2822071	NM_001851.6(COL9A1):c.1999-7A>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820786	NM_001851.6(COL9A1):c.1819-15C>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820740	NM_001851.6(COL9A1):c.190C>T (p.Gln64Ter)	COL9A1 (Q64*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2819649	NM_001851.6(COL9A1):c.1560G>T (p.Gly520=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818257	NM_001851.6(COL9A1):c.781-9C>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816573	NM_001851.6(COL9A1):c.1720-2A>G	COL9A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2815616	NM_001851.6(COL9A1):c.2503+17A>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815405	NM_001851.6(COL9A1):c.2232C>A (p.Thr744=)	COL9A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2814238	NM_001851.6(COL9A1):c.828T>C (p.Pro276=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813561	NM_001851.6(COL9A1):c.1668del (p.Glu557fs)	COL9A1 (E314fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2812807	NM_001851.6(COL9A1):c.1562C>A (p.Ala521Asp)	COL9A1 (A278D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2811833	NM_001851.6(COL9A1):c.2080-17T>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811125	NM_001851.6(COL9A1):c.840G>C (p.Pro280=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809077	NM_001851.6(COL9A1):c.717_781-267del	COL9A1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2806417	NM_001851.6(COL9A1):c.1872+20C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805823	NM_001851.6(COL9A1):c.657G>T (p.Val219=)	COL9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803823	NM_001851.6(COL9A1):c.837T>A (p.Pro279=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803651	NM_001851.6(COL9A1):c.2364dup (p.Thr789fs)	COL9A1 (T497fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2800780	NM_001851.6(COL9A1):c.696+16C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799918	NM_001851.6(COL9A1):c.1999-17del	COL9A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2797906	NM_001851.6(COL9A1):c.166+8G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795139	NM_001851.6(COL9A1):c.15-2A>T	COL9A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2794469	NM_001851.6(COL9A1):c.2314+17G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792413	NM_001851.6(COL9A1):c.1030-13T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792228	NM_001851.6(COL9A1):c.876+8T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790517	NM_001851.6(COL9A1):c.1504-17A>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790202	NM_001851.6(COL9A1):c.1819-10C>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787187	NM_001851.6(COL9A1):c.534C>T (p.Ser178=)	COL9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784933	NM_001851.6(COL9A1):c.588T>C (p.Val196=)	COL9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784112	NM_001851.6(COL9A1):c.847_848del (p.Pro283fs)	COL9A1 (P283fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2784084	NM_001851.6(COL9A1):c.723T>C (p.His241=)	COL9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779536	NM_001851.6(COL9A1):c.781-1G>C	COL9A1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2778158	NM_001851.6(COL9A1):c.1231-8C>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777080	NM_001851.6(COL9A1):c.1782A>G (p.Pro594=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2775587	NM_001851.6(COL9A1):c.768A>G (p.Pro256=)	COL9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771978	NM_001851.6(COL9A1):c.1197+11T>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 13