ClinVar for MedGen (Select 351514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3254736	NM_021615.5(CHST6):c.289C>T (p.Arg97Cys)	CHST6 (R97C)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GLikely pathogenic
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 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 2637472	NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)	CHST6 (R211W)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic
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 2577141	NM_021615.5(CHST6):c.379C>T (p.Arg127Cys)	CHST6 (R127C)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic
Select item 2506044	NM_021615.5(CHST6):c.573dup (p.Ala192fs)	CHST6 (A192fs)	Duplication (frameshift variant)	Macular corneal dystrophy	GPathogenic
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 1709248	NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs)	CHST6 (Q354fs)	Microsatellite (frameshift variant)	Macular corneal dystrophy	GUncertain significance
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 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 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)	Macular corneal dystrophy +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
Select item 1011772	NM_021615.5(CHST6):c.729C>T (p.Arg243=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GLikely benign
Select item 1002002	NM_021615.5(CHST6):c.500C>T (p.Ser167Phe)	CHST6 (S167F)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 938507	NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys)	CHST6 (E366K)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 888249	NM_021615.5(CHST6):c.15C>T (p.Arg5=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GConflicting classifications of pathogenicity
Select item 888248	NM_021615.5(CHST6):c.24C>T (p.Ser8=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GUncertain significance
Select item 888247	NM_021615.5(CHST6):c.115G>C (p.Ala39Pro)	CHST6 (A39P)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 888187	NM_021615.5(CHST6):c.*13T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888186	NM_021615.5(CHST6):c.*68G>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888185	NM_021615.5(CHST6):c.*106G>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888184	NM_021615.5(CHST6):c.*164G>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888069	NM_021615.5(CHST6):c.*2635G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888068	NM_021615.5(CHST6):c.*2770T>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888067	NM_021615.5(CHST6):c.*2833T>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 887983	NM_021615.5(CHST6):c.*3917G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 887982	NM_021615.5(CHST6):c.*3947C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887981	NM_021615.5(CHST6):c.*3983G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887980	NM_021615.5(CHST6):c.*4003T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887933	NM_021615.5(CHST6):c.*5011G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887932	NM_021615.5(CHST6):c.*5149C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887931	NM_021615.5(CHST6):c.*5182C>G	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 887930	NM_021615.5(CHST6):c.*5190T>A	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 887929	NM_021615.5(CHST6):c.*5197C>T	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GLikely benign
Select item 886988	NM_021615.5(CHST6):c.301C>T (p.Leu101=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 886987	NM_021615.5(CHST6):c.484C>A (p.Arg162=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GUncertain significance
Select item 886986	NM_021615.5(CHST6):c.496C>G (p.Arg166Gly)	CHST6 (R166G)	Single nucleotide variant (missense variant)	Macular corneal dystrophy +1 more	GUncertain significance
Select item 886985	NM_021615.5(CHST6):c.539A>G (p.Asn180Ser)	CHST6 (N180S)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GUncertain significance
Select item 886984	NM_021615.5(CHST6):c.573C>G (p.Pro191=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy	GConflicting classifications of pathogenicity
Select item 886918	NM_021615.5(CHST6):c.*435C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 886850	NM_021615.5(CHST6):c.*1652G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886849	NM_021615.5(CHST6):c.*1836G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886791	NM_021615.5(CHST6):c.*2962G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886790	NM_021615.5(CHST6):c.*3240A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886789	NM_021615.5(CHST6):c.*3297C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886788	NM_021615.5(CHST6):c.*3465T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 886729	NM_021615.5(CHST6):c.*4238A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886728	NM_021615.5(CHST6):c.*4291T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886727	NM_021615.5(CHST6):c.*4325A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886726	NM_021615.5(CHST6):c.*4444A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886676	NM_021615.5(CHST6):c.*5208C>T	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 886675	NM_021615.5(CHST6):c.*5311T>C	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 885986	NM_021615.5(CHST6):c.656C>T (p.Ala219Val)	CHST6 (A219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 885914	NM_021615.5(CHST6):c.*818G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885913	NM_021615.5(CHST6):c.*824G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885855	NM_021615.5(CHST6):c.*2050G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885854	NM_021615.5(CHST6):c.*2131C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885779	NM_021615.5(CHST6):c.*3547C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885778	NM_021615.5(CHST6):c.*3602C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885777	NM_021615.5(CHST6):c.*3608A>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885776	NM_021615.5(CHST6):c.*3656C>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885725	NM_021615.5(CHST6):c.*4460T>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885724	NM_021615.5(CHST6):c.*4494G>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885723	NM_021615.5(CHST6):c.*4566A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885722	NM_021615.5(CHST6):c.*4573C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance

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