ClinVar for MedGen (Select 944) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066254	NM_000390.4(CHM):c.1615G>T (p.Glu539Ter)	CHM (E391* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GPathogenic
Select item 2661903	NM_000390.4(CHM):c.294_295del (p.Glu99fs)	CHM (E99fs)	Deletion (frameshift variant +1 more)	Choroideremia	GPathogenic
Select item 2577505	NM_000390.4(CHM):c.1168_1244+1del	CHM	Deletion (splice donor variant)	Choroideremia	GLikely pathogenic
Select item 2572605	NM_000390.4(CHM):c.453dup (p.Glu152Ter)	CHM, LOC129391306 (E152* +1 more)	Duplication (nonsense)	Choroideremia	GLikely pathogenic
Select item 2444287	NM_000390.4(CHM):c.386del (p.Asn129fs)	CHM, LOC129391306 (N129fs)	Deletion (frameshift variant +1 more)	Choroideremia	GLikely pathogenic
Select item 1806365	NM_000390.4(CHM):c.941-1G>A	CHM	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1806322	NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)	CHM (Q186fs +1 more)	Insertion (frameshift variant)	Choroideremia	GPathogenic
Select item 1805107	NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)	CHM	Deletion (frameshift variant +1 more)	Choroideremia	GPathogenic
Select item 1726706	NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)	CHM (C362* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GLikely pathogenic
Select item 1726566	NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)	CHM	Insertion (nonsense +1 more)	Choroideremia	GLikely pathogenic
Select item 1725728	NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)	CHM (Y173* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GLikely pathogenic
Select item 1725706	NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)	CHM (G248* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GLikely pathogenic
Select item 1725523	NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)	CHM (Y43*)	Single nucleotide variant (nonsense +1 more)	Choroideremia	GLikely pathogenic
Select item 1725429	NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)	CHM (A24fs)	Insertion (frameshift variant +1 more)	Choroideremia	GLikely pathogenic
Select item 1724007	NM_000390.4(CHM):c.82_83del (p.Ser28fs)	CHM (S28fs)	Deletion (frameshift variant +1 more)	Choroideremia	GLikely pathogenic
Select item 1703520	NM_000390.4(CHM):c.1402del (p.Ser468fs)	CHM (S320fs +1 more)	Deletion (frameshift variant)	Choroideremia	GLikely pathogenic
Select item 1698965	NM_000390.4(CHM):c.1960T>C (p.Ter654Gln)	CHM	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 1698721	NM_000390.4(CHM):c.1714G>A (p.Val572Ile)	CHM (V424I +1 more)	Single nucleotide variant (missense variant)	Choroideremia	GUncertain significance
Select item 1691447	NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer)	CHM, LOC129391306	Duplication (nonsense +1 more)	Choroideremia	GPathogenic
Select item 1687252	NM_000390.4(CHM):c.309T>A (p.Tyr103Ter)	CHM (Y103*)	Single nucleotide variant (nonsense +1 more)	Choroideremia	GLikely pathogenic
Select item 1685632	NM_000390.4(CHM):c.437T>G (p.Leu146Ter)	CHM, LOC129391306 (L146*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1685631	NM_000390.4(CHM):c.961del (p.Tyr321fs)	CHM (Y173fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1685630	NM_000390.4(CHM):c.1350-1G>A	CHM	Single nucleotide variant (splice acceptor variant)	Choroideremia	GPathogenic/Likely pathogenic
Select item 1675198	NM_000390.4(CHM):c.187C>T (p.Gln63Ter)	CHM (Q63*)	Single nucleotide variant (nonsense +1 more)	Choroideremia	GPathogenic
Select item 1330298	NM_000390.4(CHM):c.846dup (p.Asn283Ter)	CHM (N135* +1 more)	Duplication (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 1330296	NM_000390.4(CHM):c.703-2A>G	CHM	Single nucleotide variant (splice acceptor variant)	Choroideremia	GPathogenic
Select item 1303896	NM_000390.4(CHM):c.1359C>T (p.Ser453=)	CHM	Single nucleotide variant (synonymous variant)	Choroideremia +1 more	GConflicting classifications of pathogenicity
Select item 1278103	NM_000390.4(CHM):c.315-1543T>C	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246353	NM_000390.4(CHM):c.315-1541C>A	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213974	NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)	CHM (K208* +1 more)	Single nucleotide variant (nonsense)	Choroideremia +1 more	GPathogenic
Select item 1213973	NM_000390.4(CHM):c.856C>T (p.Gln286Ter)	CHM (Q138* +1 more)	Single nucleotide variant (nonsense)	Choroideremia +1 more	GPathogenic
Select item 1184533	NC_000023.11:g.86047630G>A		Single nucleotide variant	Choroideremia	GLikely pathogenic
Select item 1178351	NM_000390.4(CHM):c.232C>T (p.Gln78Ter)	CHM (Q78*)	Single nucleotide variant (nonsense +1 more)	Choroideremia	GPathogenic
Select item 1168390	NM_000390.4(CHM):c.447G>T (p.Met149Ile)	CHM, LOC129391306 (M149I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1165869	NM_000390.4(CHM):c.205G>C (p.Val69Leu)	CHM (V69L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1165868	NM_000390.4(CHM):c.1620A>G (p.Gln540=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1165534	NM_000390.4(CHM):c.1929A>C (p.Thr643=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1158381	NM_000390.4(CHM):c.484G>A (p.Asp162Asn)	CHM, LOC129391306 (D14N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1075553	NM_000390.4(CHM):c.1166+1G>C	CHM	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1065740	NM_000390.4(CHM):c.83C>G (p.Ser28Ter)	CHM (S28*)	Single nucleotide variant (nonsense +1 more)	Choroideremia	GLikely pathogenic
Select item 1059760	NM_000390.4(CHM):c.1574A>G (p.Gln525Arg)	CHM (Q377R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039645	NM_000390.4(CHM):c.182A>C (p.Glu61Ala)	CHM (E61A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1038440	NM_000390.4(CHM):c.368C>T (p.Ala123Val)	CHM, LOC129391306 (A123V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1034490	NM_000390.4(CHM):c.1275G>C (p.Gln425His)	CHM (Q277H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011961	NM_000390.4(CHM):c.1771-4C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 989638	NM_000390.4(CHM):c.10A>G (p.Thr4Ala)	CHM (T4A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 989637	NM_000390.4(CHM):c.29A>G (p.Asp10Gly)	CHM (D10G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 989636	NM_000390.4(CHM):c.498G>A (p.Ala166=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989635	NM_000390.4(CHM):c.502G>C (p.Glu168Gln)	CHM (E168Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967914	NM_000390.4(CHM):c.5C>T (p.Ala2Val)	CHM (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967667	NM_000390.4(CHM):c.352C>G (p.Leu118Val)	CHM, LOC129391306 (L118V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 966266	NM_000390.4(CHM):c.127T>C (p.Tyr43His)	CHM (Y43H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 964541	NM_000390.4(CHM):c.1648C>G (p.Leu550Val)	CHM (L550V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 951473	NM_000390.4(CHM):c.1893A>G (p.Ile631Met)	CHM (I483M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947713	NM_000390.4(CHM):c.1664G>C (p.Arg555Thr)	CHM (R555T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 937037	NM_000390.4(CHM):c.652_655del (p.Ser218fs)	CHM (S218fs +1 more)	Deletion (frameshift variant)	Choroideremia +1 more	GPathogenic
Select item 930991	NM_000390.4(CHM):c.539del (p.Asn180fs)	CHM (N180fs +1 more)	Deletion (frameshift variant)	Choroideremia	GLikely pathogenic
Select item 871857	NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)	CHM (Y551fs +1 more)	Deletion (frameshift variant)	Choroideremia +1 more	GPathogenic
Select item 866059	NM_000390.4(CHM):c.1446del (p.Gly483fs)	CHM (G483fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 852711	NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr)	CHM (C406Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848323	NM_000390.4(CHM):c.962A>G (p.Tyr321Cys)	CHM (Y321C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844970	NM_000390.4(CHM):c.926C>T (p.Pro309Leu)	CHM (P309L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813168	NM_000390.4(CHM):c.1413+1G>T	CHM	Single nucleotide variant (splice donor variant)	Choroideremia +1 more	GPathogenic
Select item 813167	NM_000390.4(CHM):c.498_499dup (p.Leu167fs)	CHM (L167fs +1 more)	Microsatellite (frameshift variant)	Choroideremia	GPathogenic
Select item 813166	NM_000390.4(CHM):c.469C>T (p.Gln157Ter)	CHM, LOC129391306 (Q157* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GPathogenic
Select item 813165	NM_000390.4(CHM):c.419del (p.Pro140fs)	CHM, LOC129391306 (P140fs)	Deletion (frameshift variant +1 more)	Choroideremia	GPathogenic
Select item 813164	NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs)	CHM, LOC129391306 (N129fs)	Indel (5 prime UTR variant +1 more)	Choroideremia	GPathogenic
Select item 812270	NM_000390.2:c.315_702del	CHM	Deletion	Choroideremia	GPathogenic
Select item 812269	NM_000390.4(CHM):c.564_565del (p.Pro189fs)	CHM (P41fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812268	NM_000390.4(CHM):c.819+1G>C	CHM	Single nucleotide variant (splice donor variant)	Choroideremia	GPathogenic
Select item 812267	NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)	CHM (Y290* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GPathogenic
Select item 811585	NM_000390.4(CHM):c.1511-6del	CHM	Deletion (intron variant)	not provided +1 more	GBenign
Select item 804047	NM_000390.4(CHM):c.29_30del (p.Asp10fs)	CHM (D10fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 804046	NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs)	CHM (D205fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 804045	NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)	CHM (Q377* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GPathogenic
Select item 804044	NM_000390.4(CHM):c.1645G>C (p.Ala549Pro)	CHM (A401P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 796445	NM_000390.4(CHM):c.1782T>C (p.Leu594=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796016	NM_000390.4(CHM):c.619A>G (p.Thr207Ala)	CHM (T59A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 794377	NM_000390.4(CHM):c.1920G>A (p.Lys640=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787552	NM_000390.4(CHM):c.582A>G (p.Glu194=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767506	NM_000390.4(CHM):c.1713C>T (p.Asn571=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764374	NM_000390.4(CHM):c.591T>C (p.Ser197=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763372	NM_000390.4(CHM):c.6G>T (p.Ala2=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707550	NM_000390.4(CHM):c.1255A>G (p.Ile419Val)	CHM (I271V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 707306	NM_000390.4(CHM):c.1245-8_1245-6del	CHM	Microsatellite (intron variant)	not provided	GBenign
Select item 707222	NM_000390.4(CHM):c.1380T>C (p.Asp460=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 704772	NM_000390.4(CHM):c.8A>G (p.Asp3Gly)	CHM (D3G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 704633	NM_000390.4(CHM):c.1008T>C (p.Ile336=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 702773	NM_000390.4(CHM):c.1641G>T (p.Leu547=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 702406	NM_000390.4(CHM):c.1349+10C>T	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 702038	NM_000390.4(CHM):c.825G>A (p.Pro275=)	CHM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 698222	NM_000390.4(CHM):c.1802A>G (p.Asn601Ser)	CHM (N601S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 698157	NM_000390.4(CHM):c.238C>T (p.Leu80Phe)	CHM (L80F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 635965	NC_000023.11:g.86041956_86048370inv	CHM	Inversion	Choroideremia	GPathogenic
Select item 635551	NM_000390.4(CHM):c.660del (p.Ile221fs)	CHM (I73fs +1 more)	Deletion (frameshift variant)	Choroideremia	GPathogenic
Select item 635534	NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	CHM (E8*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 546493	NM_000390.4(CHM):c.1680del (p.Ser561fs)	CHM (S413fs +1 more)	Deletion (frameshift variant)	Choroideremia +1 more	GPathogenic/Likely pathogenic
Select item 488681	NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)	CHM (C406* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 449468	NM_000390.4(CHM):c.820-2A>G	CHM	Single nucleotide variant (splice acceptor variant)	Choroideremia +1 more	GPathogenic
Select item 440813	NM_000390.4(CHM):c.280del (p.Thr94fs)	CHM (T94fs)	Deletion (frameshift variant +1 more)	Choroideremia	GPathogenic

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