Related gene-specific medical variations for Gene (Select 1121) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245901	NC_000023.10:g.(?_85133986)_(85163188_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3245888	NC_000023.10:g.(?_85166246)_(85236833_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3245877	NC_000023.10:g.(?_85211138)_(85236833_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3245866	NC_000023.10:g.(?_85119635)_(85236833_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3245855	NC_000023.10:g.(?_85211138)_(85302644_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3245844	NC_000023.10:g.(?_85282475)_(85302644_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3245833	NC_000023.10:g.(?_85211138)_(85211403_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3245822	NC_000023.10:g.(?_85302468)_(85302644_?)del	CHM	Deletion	not provided	GPathogenic
Select item 3062583	GRCh37/hg19 Xq21.2(chrX:84757293-85173557)	CHM	Copy number gain	not specified	GUncertain significance
Select item 2901381	NM_000390.4(CHM):c.339A>G (p.Glu113=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877682	NM_000390.4(CHM):c.315-14A>G	CHM, LOC129391306	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833750	NM_000390.4(CHM):c.364C>A (p.His122Asn)	CHM, LOC129391306 (H122N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2826273	NM_000390.4(CHM):c.435A>G (p.Ser145=)	CHM, LOC129391306	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2794902	NM_000390.4(CHM):c.315-11T>A	CHM, LOC129391306	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784015	NM_000390.4(CHM):c.447G>A (p.Met149Ile)	LOC129391306, CHM (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749722	NM_000390.4(CHM):c.465A>C (p.Thr155=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738936	NM_000390.4(CHM):c.315-16T>C	CHM, LOC129391306	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2281102	NM_000390.4(CHM):c.365A>G (p.His122Arg)	CHM, LOC129391306 (H122R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2182432	NM_000390.4(CHM):c.350_351inv (p.Ala117Val)	CHM, LOC129391306 (A117V)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 2174214	NM_000390.4(CHM):c.337G>A (p.Glu113Lys)	CHM, LOC129391306 (E113K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2152348	NM_000390.4(CHM):c.315-1G>C	CHM, LOC129391306	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 2146729	NM_000390.4(CHM):c.421A>G (p.Thr141Ala)	CHM, LOC129391306 (T141A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138627	NM_000390.4(CHM):c.316C>T (p.Gln106Ter)	CHM, LOC129391306 (Q106*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2134445	NM_000390.4(CHM):c.324G>T (p.Leu108Phe)	CHM, LOC129391306 (L108F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2133669	NM_000390.4(CHM):c.393A>G (p.Thr131=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2096747	NM_000390.4(CHM):c.315-1G>T	CHM, LOC129391306	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 2071692	NM_000390.4(CHM):c.431A>G (p.Glu144Gly)	CHM, LOC129391306 (E144G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2030995	NM_000390.4(CHM):c.432G>A (p.Glu144=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1964722	NM_000390.4(CHM):c.345T>C (p.Ala115=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1691447	NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer)	CHM, LOC129391306	Duplication (nonsense +1 more)	Choroideremia	GPathogenic
Select item 1685632	NM_000390.4(CHM):c.437T>G (p.Leu146Ter)	CHM, LOC129391306 (L146*)	Single nucleotide variant (nonsense +1 more)	Choroideremia +1 more	GPathogenic
Select item 1658712	NM_000390.4(CHM):c.315-4T>C	CHM, LOC129391306	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631638	NM_000390.4(CHM):c.415C>T (p.Leu139=)	CHM, LOC129391306	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1604670	NM_000390.4(CHM):c.393A>C (p.Thr131=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1587859	NM_000390.4(CHM):c.387C>T (p.Asn129=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1560659	NM_000390.4(CHM):c.369T>C (p.Ala123=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1530069	NM_000390.4(CHM):c.462C>T (p.Leu154=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496213	NM_000390.4(CHM):c.356A>G (p.Gln119Arg)	CHM, LOC129391306 (Q119R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482014	NM_000390.4(CHM):c.370C>A (p.Leu124Ile)	CHM, LOC129391306 (L124I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1481171	NM_000390.4(CHM):c.361A>C (p.Asn121His)	CHM, LOC129391306 (N121H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1480853	NM_000390.4(CHM):c.398C>T (p.Ala133Val)	CHM, LOC129391306 (A133V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1387332	NM_000390.4(CHM):c.383C>T (p.Ala128Val)	CHM, LOC129391306 (A128V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1335780	NM_000390.4(CHM):c.469del (p.Gln157fs)	CHM, LOC129391306 (Q157fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1330296	NM_000390.4(CHM):c.703-2A>G	CHM	Single nucleotide variant (splice acceptor variant)	Choroideremia	GPathogenic
Select item 1275780	NM_000390.4(CHM):c.1370T>C (p.Leu457Pro)	CHM (L309P +1 more)	Single nucleotide variant (missense variant)	not provided	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 1166343	NM_000390.4(CHM):c.315-6T>C	CHM, LOC129391306	Single nucleotide variant (intron 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 1157476	NM_000390.4(CHM):c.372T>C (p.Leu124=)	LOC129391306, CHM	Single nucleotide variant (synonymous variant +1 more)	CHM-related disorder +1 more	GLikely benign
Select item 1153913	NM_000390.4(CHM):c.422C>T (p.Thr141Met)	CHM, LOC129391306 (T141M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1148258	NM_000390.4(CHM):c.336C>T (p.Val112=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1144780	NM_000390.4(CHM):c.370C>T (p.Leu124Phe)	CHM, LOC129391306 (L124F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1140787	NM_000390.4(CHM):c.468A>G (p.Glu156=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136557	NM_000390.4(CHM):c.402A>G (p.Ala134=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1129847	NM_000390.4(CHM):c.338A>G (p.Glu113Gly)	CHM, LOC129391306 (E113G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1129243	NM_000390.4(CHM):c.427G>T (p.Asp143Tyr)	CHM, LOC129391306 (D143Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1108671	NM_000390.4(CHM):c.378A>G (p.Thr126=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1107262	NM_000390.4(CHM):c.444T>G (p.Thr148=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1068502	NM_000390.4(CHM):c.315-2A>C	CHM, LOC129391306	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
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 1024784	NM_000390.4(CHM):c.391A>G (p.Thr131Ala)	CHM, LOC129391306 (T131A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 987283	NM_000390.4(CHM):c.262_263dup (p.Ser89fs)	CHM (S89fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 986885	NM_000390.4(CHM):c.941-1G>T	CHM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 979831	GRCh37/hg19 Xq21.2(chrX:85203910-85338467)x2	CHM	Copy number gain	not provided	GUncertain significance
Select item 979830	GRCh37/hg19 Xq21.2(chrX:85002027-85171444)x2	CHM	Copy number gain	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 936538	NM_000390.4(CHM):c.464C>A (p.Thr155Lys)	CHM, LOC129391306 (T155K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930991	NM_000390.4(CHM):c.539del (p.Asn180fs)	CHM (N180fs +1 more)	Deletion (frameshift variant)	Choroideremia	GLikely pathogenic
Select item 867164	NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer)	CHM	Deletion (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867034	NM_000390.4(CHM):c.535dup (p.Glu179fs)	CHM (E179fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866915	NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer)	CHM	Deletion (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866881	NM_000390.4(CHM):c.820-1G>A	CHM	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866771	NM_000390.2(CHM):c.1167del	CHM	Deletion (genic downstream transcript variant)	Retinal dystrophy	GLikely pathogenic
Select item 866702	NM_000390.4(CHM):c.385A>G (p.Asn129Asp)	CHM, LOC129391306 (N129D)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866469	NM_000390.4(CHM):c.1770+2T>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866185	NM_000390.4(CHM):c.1463G>T (p.Arg488Leu)	CHM (R488L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865934	NM_000390.4(CHM):c.355C>T (p.Gln119Ter)	CHM, LOC129391306 (Q119*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865840	NM_000390.4(CHM):c.436_439del (p.Leu146fs)	CHM, LOC129391306 (L146fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865793	NM_000390.4(CHM):c.49+2T>C	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 860171	NM_000390.4(CHM):c.437_440dup (p.Thr148fs)	CHM, LOC129391306 (T148fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 843521	NM_000390.4(CHM):c.481A>G (p.Ser161Gly)	LOC129391306, CHM (S161G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 719148	NM_000390.4(CHM):c.483C>T (p.Ser161=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635965	NC_000023.11:g.86041956_86048370inv	CHM	Inversion	Choroideremia	GPathogenic
Select item 498541	NM_000390.4(CHM):c.434C>T (p.Ser145Leu)	CHM, LOC129391306 (S145L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 375229	NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del	CHM	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 279772	NM_000390.4(CHM):c.315_318del (p.Ser105Argfs)	CHM, LOC129391306	Deletion (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 255991	NM_000390.4(CHM):c.351A>G (p.Ala117=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 11156	NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT	CHM	Insertion	Choroideremia	GPathogenic

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Items: 95