ClinVar for Gene (Select 4166) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 346

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336271	NM_021615.5(CHST6):c.217G>T (p.Ala73Ser)	CHST6 (A73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336190	NM_021615.5(CHST6):c.213G>T (p.Glu71Asp)	CHST6 (E71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336188	NM_021615.5(CHST6):c.214C>T (p.Pro72Ser)	CHST6 (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335962	NM_021615.5(CHST6):c.277C>T (p.Arg93Cys)	CHST6 (R93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335959	NM_021615.5(CHST6):c.158C>T (p.Ser53Leu)	CHST6 (S53L)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic
Select item 3267246	NM_021615.5(CHST6):c.512T>C (p.Val171Ala)	CHST6 (V171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267245	NM_021615.5(CHST6):c.850A>G (p.Ile284Val)	CHST6 (I284V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267244	NM_021615.5(CHST6):c.707A>T (p.Asp236Val)	CHST6 (D236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254736	NM_021615.5(CHST6):c.289C>T (p.Arg97Cys)	CHST6 (R97C)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GLikely pathogenic
Select item 3251819	NM_021615.5(CHST6):c.231G>C (p.Trp77Cys)	CHST6 (W77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068083	NM_021615.5(CHST6):c.494G>C (p.Cys165Ser)	CHST6 (C165S)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 3063405	GRCh37/hg19 16q23.1(chr16:75407039-75524905)x1	CFDP1, CHST6 +1 more	Copy number loss	not specified	GPathogenic
Select item 3044132	NM_021615.5(CHST6):c.747C>T (p.His249=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder	GLikely benign
Select item 3040696	NM_021615.5(CHST6):c.39G>A (p.Ala13=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder	GLikely benign
Select item 3034068	NM_021615.5(CHST6):c.820G>C (p.Glu274Gln)	CHST6 (E274Q)	Single nucleotide variant (missense variant)	CHST6-related disorder	GUncertain significance
Select item 3022419	NM_021615.5(CHST6):c.132G>A (p.Leu44=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 2919412	NM_021615.5(CHST6):c.522G>A (p.Lys174=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 2886092	NM_021615.5(CHST6):c.912T>C (p.His304=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 2866999	NM_021615.5(CHST6):c.1071C>A (p.Gly357=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 2762125	NM_021615.5(CHST6):c.260C>T (p.Thr87Met)	CHST6 (T87M)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 2736374	NM_021615.5(CHST6):c.6_7delinsAA (p.Trp2_Leu3delinsTer)	CHST6	Indel (nonsense)	Macular corneal dystrophy	GPathogenic
Select item 2736373	NM_021615.5(CHST6):c.632G>A (p.Arg211Gln)	CHST6 (R211Q)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2637472	NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)	CHST6 (R211W)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic
Select item 2609740	NM_021615.5(CHST6):c.290G>A (p.Arg97His)	CHST6 (R97H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602722	NM_021615.5(CHST6):c.353C>G (p.Ser118Cys)	CHST6 (S118C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581240	NM_021615.5(CHST6):c.1001G>A (p.Arg334His)	CHST6 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581187	NM_021615.5(CHST6):c.418C>T (p.Arg140Ter)	CHST6 (R140*)	Single nucleotide variant (nonsense)	Macular corneal dystrophy	GPathogenic
Select item 2581091	NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)	CHST6 (A161P)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GLikely pathogenic
Select item 2577142	NM_021615.5(CHST6):c.815G>A (p.Arg272His)	CHST6 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577141	NM_021615.5(CHST6):c.379C>T (p.Arg127Cys)	CHST6 (R127C)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic
Select item 2559228	NM_021615.5(CHST6):c.770C>T (p.Thr257Ile)	CHST6 (T257I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550855	NM_021615.5(CHST6):c.1055C>T (p.Ala352Val)	CHST6 (A352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548240	NM_021615.5(CHST6):c.455T>A (p.Leu152Gln)	CHST6 (L152Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532965	NM_021615.5(CHST6):c.782C>G (p.Pro261Arg)	CHST6 (P261R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521917	NM_021615.5(CHST6):c.1111G>A (p.Ala371Thr)	CHST6 (A371T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506044	NM_021615.5(CHST6):c.573dup (p.Ala192fs)	CHST6 (A192fs)	Duplication (frameshift variant)	Macular corneal dystrophy	GPathogenic
Select item 2506043	NM_021615.5(CHST6):c.175C>T (p.Leu59Phe)	CHST6 (L59F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503819	NM_021615.5(CHST6):c.455T>C (p.Leu152Pro)	CHST6 (L152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423621	NC_000016.9:g.(?_75512539)_(75576601_?)del	CHST5, CHST6 +1 more	Deletion	Joubert syndrome 20 +1 more	GPathogenic
Select item 2380886	NM_021615.5(CHST6):c.43C>A (p.Leu15Ile)	CHST6 (L15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367531	NM_021615.5(CHST6):c.712G>A (p.Gly238Ser)	CHST6 (G238S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342514	NM_021615.5(CHST6):c.272C>T (p.Ala91Val)	CHST6 (A91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340868	NM_021615.5(CHST6):c.422G>A (p.Gly141Asp)	CHST6 (G141D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333267	NM_021615.5(CHST6):c.905G>C (p.Trp302Ser)	CHST6 (W302S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328884	NM_021615.5(CHST6):c.271G>A (p.Ala91Thr)	CHST6 (A91T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325899	NM_021615.5(CHST6):c.550C>G (p.Leu184Val)	CHST6 (L184V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312712	NM_021615.5(CHST6):c.14G>A (p.Arg5His)	CHST6 (R5H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299964	NM_021615.5(CHST6):c.1166C>T (p.Thr389Ile)	CHST6 (T389I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292161	NM_021615.5(CHST6):c.260C>A (p.Thr87Lys)	CHST6 (T87K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285141	NM_021615.5(CHST6):c.395C>A (p.Pro132Gln)	CHST6 (P132Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279866	NM_021615.5(CHST6):c.731A>G (p.Glu244Gly)	CHST6 (E244G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275758	NM_021615.5(CHST6):c.983A>G (p.Asn328Ser)	CHST6 (N328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269294	NM_021615.5(CHST6):c.833G>C (p.Arg278Pro)	CHST6 (R278P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224974	NM_021615.5(CHST6):c.829G>C (p.Ala277Pro)	CHST6 (A277P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221834	NM_021615.5(CHST6):c.730G>A (p.Glu244Lys)	CHST6 (E244K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221282	NM_021615.5(CHST6):c.290G>T (p.Arg97Leu)	CHST6 (R97L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218057	NM_021615.5(CHST6):c.31G>A (p.Val11Met)	CHST6 (V11M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214836	NM_021615.5(CHST6):c.728G>T (p.Arg243Leu)	CHST6 (R243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179732	NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)	CHST6 (R378*)	Single nucleotide variant (nonsense)	Macular corneal dystrophy	GUncertain significance
Select item 2161680	NM_021615.5(CHST6):c.485G>A (p.Arg162Gln)	CHST6 (R162Q)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 2151729	NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)	CHST6 (R209C)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 2128573	NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)	CHST6 (Q331R)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 2114380	NM_021615.5(CHST6):c.601_621del (p.Val201_Val207del)	CHST6	Deletion (inframe_deletion)	Macular corneal dystrophy	GPathogenic
Select item 2082569	NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)	CHST6 (G238D)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 2058256	NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)	CHST6 (R155L)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 2055822	NM_021615.5(CHST6):c.1033G>A (p.Val345Met)	CHST6 (V345M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2026508	NM_021615.5(CHST6):c.290_293dup (p.Val99fs)	CHST6 (V99fs)	Duplication (frameshift variant)	Macular corneal dystrophy	GPathogenic
Select item 2020758	NM_021615.5(CHST6):c.323A>T (p.Asp108Val)	CHST6 (D108V)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1940403	NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)	CHST6 (E317Q)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1712626	NM_021615.5(CHST6):c.1109T>G (p.Leu370Arg)	CHST6 (L370R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709248	NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs)	CHST6 (Q354fs)	Microsatellite (frameshift variant)	Macular corneal dystrophy	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1682045	NC_000016.9:g.(?_75428968)_(75690509_?)del	CHST5, CHST6 +7 more	Deletion	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1592563	NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr)	CHST6 (A336T)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GBenign
Select item 1507306	NM_021615.5(CHST6):c.799C>T (p.Arg267Cys)	CHST6 (R267C)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1469231	NM_021615.5(CHST6):c.1099C>G (p.Gln367Glu)	CHST6 (Q367E)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1464323	NM_021615.5(CHST6):c.355G>C (p.Asp119His)	CHST6 (D119H)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1459206	NC_000016.9:g.(?_74748068)_(75513746_?)del	BCAR1, CFDP1 +9 more	Deletion	Macular corneal dystrophy	GPathogenic
Select item 1457752	NC_000016.9:g.(?_75490611)_(75576599_?)del	CHST5, CHST6 +2 more	Deletion	Joubert syndrome 20 +1 more	GPathogenic
Select item 1407473	NM_021615.5(CHST6):c.14G>C (p.Arg5Pro)	CHST6 (R5P)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1382293	NM_021615.5(CHST6):c.532T>G (p.Phe178Val)	CHST6 (F178V)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1365779	NM_021615.5(CHST6):c.307G>A (p.Asp103Asn)	CHST6 (D103N)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1359144	NM_021615.5(CHST6):c.400G>A (p.Ala134Thr)	CHST6 (A134T)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1325889	NM_021615.5(CHST6):c.211G>C (p.Glu71Gln)	CHST6 (E71Q)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GLikely pathogenic
Select item 1300206	NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)	CHST6 (W333R)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic/Likely pathogenic
Select item 1300205	NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)	CHST6 (E283*)	Indel (nonsense)	Macular corneal dystrophy	GPathogenic/Likely pathogenic
Select item 1267003	NM_021615.5(CHST6):c.-16-289TAAGAAGGTAGGACTCACAT[2]	CHST6	Microsatellite (intron variant)	not provided	GBenign
Select item 1128178	NM_021615.5(CHST6):c.897C>G (p.Leu299=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 1124930	NM_021615.5(CHST6):c.1167C>T (p.Thr389=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 1117118	NM_021615.5(CHST6):c.585A>G (p.Leu195=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 1082486	NM_021615.5(CHST6):c.789T>C (p.Phe263=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 1061897	NM_021615.5(CHST6):c.944G>A (p.Arg315His)	CHST6 (R315H)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1058782	NM_021615.5(CHST6):c.518T>C (p.Leu173Pro)	CHST6 (L173P)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 1044629	NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg)	CHST6 (L348R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029816	NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser)	CHST6 (C165S)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4