1297[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1253

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 148992	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	ADGRB3, COL19A1 +35 more	Copy number gain	See cases	GPathogenic
Select item 155176	GRCh38/hg38 6q13(chr6:70026943-70923391)x3	B3GAT2, COL19A1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 1271891	NM_001851.6(COL9A1):c.*266T>C	COL9A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 357792	NM_001851.6(COL9A1):c.*247dup	COL9A1	Duplication (3 prime UTR variant +1 more)	Stickler Syndrome, Recessive +1 more	GUncertain significance
Select item 1259219	NM_001851.6(COL9A1):c.241_242dup	COL9A1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 357793	NM_001851.6(COL9A1):c.*242dup	COL9A1	Duplication (3 prime UTR variant +1 more)	Stickler Syndrome, Recessive +2 more	GBenign
Select item 1189526	NM_001851.6(COL9A1):c.*242del	COL9A1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1230709	NM_001851.6(COL9A1):c.*229T>C	COL9A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 357795	NM_001851.6(COL9A1):c.*174T>C	COL9A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler Syndrome, Recessive +1 more	GUncertain significance
Select item 1043915	NM_001851.6(COL9A1):c.2761C>T (p.Pro921Ser)	COL9A1 (P688S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1153949	NM_001851.6(COL9A1):c.2754G>A (p.Gly918=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 1546501	NM_001851.6(COL9A1):c.2739A>G (p.Arg913=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1024435	NM_001851.6(COL9A1):c.2737C>T (p.Arg913Ter)	COL9A1 (R621* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1947469	NM_001851.6(COL9A1):c.2724G>A (p.Met908Ile)	COL9A1 (M908I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 961268	NM_001851.6(COL9A1):c.2723T>C (p.Met908Thr)	COL9A1 (M665T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1214560	NM_001851.6(COL9A1):c.2721C>T (p.Thr907=)	COL9A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 943865	NM_001851.6(COL9A1):c.2711C>G (p.Ala904Gly)	COL9A1 (A612G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1714439	NM_001851.6(COL9A1):c.2702G>A (p.Cys901Tyr)	COL9A1 (C609Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1913762	NM_001851.6(COL9A1):c.2695G>A (p.Gly899Ser)	COL9A1 (G656S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737384	NM_001851.6(COL9A1):c.2694C>T (p.Pro898=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2014642	NM_001851.6(COL9A1):c.2684C>G (p.Pro895Arg)	COL9A1 (P895R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426338	NM_001851.6(COL9A1):c.2684C>T (p.Pro895Leu)	COL9A1 (P895L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 357798	NM_001851.6(COL9A1):c.2676G>A (p.Pro892=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 593645	NM_001851.6(COL9A1):c.2675C>T (p.Pro892Leu)	COL9A1 (P892L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423620	NM_001851.6(COL9A1):c.2671C>T (p.Pro891Ser)	COL9A1 (P891S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1486781	NM_001851.6(COL9A1):c.2655T>G (p.Ile885Met)	COL9A1 (I652M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 984393	NM_001851.6(COL9A1):c.2644del (p.Val882fs)	COL9A1 (V590fs +3 more)	Deletion (frameshift variant +1 more)	Sensorineural hearing loss disorder	GPathogenic
Select item 1118615	NM_001851.6(COL9A1):c.2643G>A (p.Gly881=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1897304	NM_001851.6(COL9A1):c.2637C>T (p.Pro879=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981669	NM_001851.6(COL9A1):c.2636C>A (p.Pro879His)	COL9A1 (P636H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1317361	NM_001851.6(COL9A1):c.2630G>A (p.Arg877Gln)	COL9A1 (R585Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1686593	NM_001851.6(COL9A1):c.2629C>T (p.Arg877Ter)	COL9A1 (R585* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 934380	NM_001851.6(COL9A1):c.2628G>T (p.Glu876Asp)	COL9A1 (E876D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1473890	NM_001851.6(COL9A1):c.2626G>C (p.Glu876Gln)	COL9A1 (E633Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1347320	NM_001851.6(COL9A1):c.2626G>A (p.Glu876Lys)	COL9A1 (E643K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2118772	NM_001851.6(COL9A1):c.2623G>C (p.Gly875Arg)	COL9A1 (G632R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451031	NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)	COL9A1 (G875S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 357799	NM_001851.6(COL9A1):c.2622C>T (p.Asp874=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188591	NM_001851.6(COL9A1):c.2618G>A (p.Arg873Gln)	COL9A1 (R640Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1328323	NM_001851.6(COL9A1):c.2618G>T (p.Arg873Leu)	COL9A1 (R581L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967545	NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)	COL9A1 (R873* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 357800	NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly)	COL9A1 (R873G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1081530	NM_001851.6(COL9A1):c.2613T>C (p.Asn871=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1316184	NM_001851.6(COL9A1):c.2605G>C (p.Gly869Arg)	COL9A1 (G577R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953706	NM_001851.6(COL9A1):c.2597C>A (p.Ala866Asp)	COL9A1 (A574D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715403	NM_001851.6(COL9A1):c.2596G>A (p.Ala866Thr)	COL9A1 (A574T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1467652	NM_001851.6(COL9A1):c.2594C>T (p.Pro865Leu)	COL9A1 (P573L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1512302	NM_001851.6(COL9A1):c.2593C>T (p.Pro865Ser)	COL9A1 (P622S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 288157	NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser)	COL9A1 (G864S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284657	NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)	COL9A1 (D862A +3 more)	Single nucleotide variant (missense variant +1 more)	COL9A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1994326	NM_001851.6(COL9A1):c.2583T>G (p.Gly861=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1203682	NM_001851.6(COL9A1):c.2582-3C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2857412	NM_001851.6(COL9A1):c.2582-11GT[2]	COL9A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2701355	NM_001851.6(COL9A1):c.2582-10del	COL9A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1630284	NM_001851.6(COL9A1):c.2582-11G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040848	NM_001851.6(COL9A1):c.2582-13C>T	COL9A1	Single nucleotide variant (intron variant)	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 2769548	NM_001851.6(COL9A1):c.2582-16C>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680046	NM_001851.6(COL9A1):c.2582-103G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268285	NM_001851.6(COL9A1):c.2582-114C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298234	NM_001851.6(COL9A1):c.2582-149C>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679660	NM_001851.6(COL9A1):c.2582-164T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183072	NM_001851.6(COL9A1):c.2582-231A>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966919	NM_001851.6(COL9A1):c.2581+15T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849128	NM_001851.6(COL9A1):c.2581+9G>A	COL9A1	Single nucleotide variant (intron 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 1940431	NM_001851.6(COL9A1):c.2581+5G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2049500	NM_001851.6(COL9A1):c.2579C>G (p.Pro860Arg)	COL9A1 (P627R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1026376	NM_001851.6(COL9A1):c.2572G>T (p.Gly858Cys)	COL9A1 (G566C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1407891	NM_001851.6(COL9A1):c.2569A>G (p.Ile857Val)	COL9A1 (I857V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197002	NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1502269	NM_001851.6(COL9A1):c.2561C>T (p.Pro854Leu)	COL9A1 (P621L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 969884	NM_001851.6(COL9A1):c.2558T>C (p.Leu853Ser)	COL9A1 (L561S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2098324	NM_001851.6(COL9A1):c.2554G>C (p.Gly852Arg)	COL9A1 (G560R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1131139	NM_001851.6(COL9A1):c.2553C>T (p.Asn851=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1493374	NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser)	COL9A1 (N559S +3 more)	Single nucleotide variant (missense variant +1 more)	Epiphyseal dysplasia, multiple, 6 +2 more	GUncertain significance
Select item 1318975	NM_001851.6(COL9A1):c.2546G>A (p.Gly849Asp)	COL9A1 (G557D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396131	NM_001851.6(COL9A1):c.2537C>G (p.Pro846Arg)	COL9A1 (P603R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1081518	NM_001851.6(COL9A1):c.2535T>C (p.Pro845=)	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 1377346	NM_001851.6(COL9A1):c.2528G>A (p.Arg843His)	COL9A1 (R551H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446742	NM_001851.6(COL9A1):c.2527C>T (p.Arg843Cys)	COL9A1 (R610C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1113951	NM_001851.6(COL9A1):c.2520G>A (p.Lys840=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2307411	NM_001851.6(COL9A1):c.2510T>C (p.Leu837Ser)	COL9A1 (L545S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2749528	NM_001851.6(COL9A1):c.2504-8_2504-4del	COL9A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1112686	NM_001851.6(COL9A1):c.2504-5T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637621	NM_001851.6(COL9A1):c.2504-11A>G	COL9A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2029466	NM_001851.6(COL9A1):c.2504-13T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572697	NM_001851.6(COL9A1):c.2504-17_2504-13del	COL9A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1639012	NM_001851.6(COL9A1):c.2504-19T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241292	NM_001851.6(COL9A1):c.2504-47A>G	COL9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224939	NM_001851.6(COL9A1):c.2503+69C>T	COL9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2815616	NM_001851.6(COL9A1):c.2503+17A>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126074	NM_001851.6(COL9A1):c.2495G>T (p.Gly832Val)	COL9A1 (G589V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477447	NM_001851.6(COL9A1):c.2492G>A (p.Arg831Lys)	COL9A1 (R588K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097116	NM_001851.6(COL9A1):c.2489T>C (p.Leu830Ser)	COL9A1 (L587S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637336	NM_001851.6(COL9A1):c.2485G>A (p.Gly829Ser)	COL9A1 (G537S +3 more)	Single nucleotide variant (missense variant +1 more)	COL9A1-related condition	GUncertain significance
Select item 258359	NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)	COL9A1 (P824T +3 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 more	GBenign/Likely benign

<< First< Prev

Page of 13