ClinVar for Gene (Select 1121) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3341583	NM_000390.4(CHM):c.809G>A (p.Arg270Gln)	CHM (R122Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267054	NM_000390.4(CHM):c.604A>G (p.Ile202Val)	CHM (I202V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267053	NM_000390.4(CHM):c.550G>T (p.Asp184Tyr)	CHM (D184Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267052	NM_000390.4(CHM):c.1905C>A (p.Asn635Lys)	CHM (N635K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267051	NM_000390.4(CHM):c.397G>A (p.Ala133Thr)	CHM, LOC129391306 (A133T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257293	NM_000390.4(CHM):c.703-1G>A	CHM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3144409	NM_000390.4(CHM):c.905G>C (p.Cys302Ser)	CHM (C154S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066254	NM_000390.4(CHM):c.1615G>T (p.Glu539Ter)	CHM (E391* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GPathogenic
Select item 3062583	GRCh37/hg19 Xq21.2(chrX:84757293-85173557)	CHM	Copy number gain	not specified	GUncertain significance
Select item 3062559	GRCh37/hg19 Xq21.1-21.2(chrX:84410317-85199316)	CHM, POF1B +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3028627	NM_000390.4(CHM):c.60A>G (p.Glu20=)	CHM	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028626	NM_000390.4(CHM):c.82T>G (p.Ser28Ala)	CHM (S28A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028625	NM_000390.4(CHM):c.88del (p.Ser30fs)	CHM (S30fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028623	NM_000390.4(CHM):c.509del (p.Asn170fs)	CHM (N170fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028622	NM_000390.4(CHM):c.534dup (p.Glu179fs)	CHM (E179fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028621	NM_000390.4(CHM):c.565C>A (p.Pro189Thr)	CHM (P189T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028620	NM_000390.4(CHM):c.617C>G (p.Thr206Ser)	CHM (T206S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028619	NM_000390.4(CHM):c.635A>C (p.Lys212Thr)	CHM (K212T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028618	NM_000390.4(CHM):c.1286_1287del (p.Ile428_Ser429insTer)	CHM	Microsatellite (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028617	NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)	CHM (S297* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028616	NM_000390.4(CHM):c.1398A>G (p.Thr466=)	CHM	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028615	NM_000390.4(CHM):c.1438G>T (p.Glu480Ter)	CHM (E332* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028614	NM_000390.4(CHM):c.1649T>C (p.Leu550Pro)	CHM (L402P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3020442	NM_000390.4(CHM):c.941-13C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017168	NM_000390.4(CHM):c.1511-19A>C	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015862	NM_000390.4(CHM):c.1510+18G>A	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010891	NM_000390.4(CHM):c.1044C>G (p.Ala348=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997310	NM_000390.4(CHM):c.942A>C (p.Gly314=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995972	NM_000390.4(CHM):c.843C>T (p.Val281=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995324	NM_000390.4(CHM):c.1596T>A (p.Thr532=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989134	NM_000390.4(CHM):c.255C>G (p.Ala85=)	CHM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988564	NM_000390.4(CHM):c.1511-16del	CHM	Deletion (intron variant)	not provided	GLikely benign
Select item 2986191	NM_000390.4(CHM):c.941-11T>A	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985295	NM_000390.4(CHM):c.1610-8A>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983821	NM_000390.4(CHM):c.1308C>A (p.Asp436Glu)	CHM (D288E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2983260	NM_000390.4(CHM):c.1707A>G (p.Pro569=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981592	NM_000390.4(CHM):c.1244+13T>C	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981268	NM_000390.4(CHM):c.1349+17C>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978136	NM_000390.4(CHM):c.1413+18T>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976452	NM_000390.4(CHM):c.1245-4A>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975051	NM_000390.4(CHM):c.1751A>G (p.Asn584Ser)	CHM (N436S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967710	NM_000390.4(CHM):c.1864C>T (p.Gln622Ter)	CHM (Q622* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2962966	NM_000390.4(CHM):c.941-17A>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961109	NM_000390.4(CHM):c.1710C>T (p.Ser570=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957296	NM_000390.4(CHM):c.1718A>T (p.Tyr573Phe)	CHM (Y573F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957007	NM_000390.4(CHM):c.744A>G (p.Lys248=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956285	NM_000390.4(CHM):c.1305G>A (p.Glu435=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920572	NM_000390.4(CHM):c.1639C>A (p.Leu547Met)	CHM (L399M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920556	NM_000390.4(CHM):c.972A>G (p.Leu324=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917992	NM_000390.4(CHM):c.1771-20A>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917500	NM_000390.4(CHM):c.283A>G (p.Ile95Val)	CHM (I95V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2917308	NM_000390.4(CHM):c.1245-11C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912952	NM_000390.4(CHM):c.1770+12G>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911748	NM_000390.4(CHM):c.1773T>C (p.Ala591=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2898751	NM_000390.4(CHM):c.190-15C>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897629	NM_000390.4(CHM):c.90T>C (p.Ser30=)	CHM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897566	NM_000390.4(CHM):c.1050C>T (p.Ser350=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897370	NM_000390.4(CHM):c.820-23_820-19del	CHM	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2888213	NM_000390.4(CHM):c.1590A>G (p.Pro530=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881322	NM_000390.4(CHM):c.1349+17C>A	CHM	Single nucleotide variant (intron variant)	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 2871817	NM_000390.4(CHM):c.294G>A (p.Val98=)	CHM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866511	NM_000390.4(CHM):c.1908G>T (p.Ser636=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864449	NM_000390.4(CHM):c.771T>C (p.Phe257=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863946	NM_000390.4(CHM):c.190-16T>C	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860907	NM_000390.4(CHM):c.1455T>C (p.Phe485=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858706	NM_000390.4(CHM):c.647_648insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGAATTAC (p.Thr216_Tyr217insAlaGlyArgGlyGlySerArgLeuTer)	CHM	Insertion (nonsense +1 more)	not provided	GPathogenic
Select item 2857981	NM_000390.4(CHM):c.819+9C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857034	NM_000390.4(CHM):c.1522T>C (p.Leu508=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856752	NM_000390.4(CHM):c.1414-19_1414-15del	CHM	Deletion (intron variant)	not provided	GLikely benign
Select item 2855279	NM_000390.4(CHM):c.898dup (p.Thr300fs)	CHM (T152fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2853734	NM_000390.4(CHM):c.117-4A>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852710	NM_000390.4(CHM):c.855A>G (p.Lys285=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847818	NM_000390.4(CHM):c.630A>G (p.Pro210=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842974	NM_000390.4(CHM):c.1610-16T>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842747	NM_000390.4(CHM):c.1950G>A (p.Glu650=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839299	NM_000390.4(CHM):c.1341G>A (p.Val447=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838123	NM_000390.4(CHM):c.50-9T>A	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837785	NM_000390.4(CHM):c.1610-2A>T	CHM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2834483	NM_000390.4(CHM):c.1245-4A>G	CHM	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 2833265	NM_000390.4(CHM):c.129T>G (p.Tyr43Ter)	CHM (Y43*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2832018	NM_000390.4(CHM):c.49+17G>A	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830732	NM_000390.4(CHM):c.264T>C (p.Leu88=)	CHM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830143	NM_000390.4(CHM):c.315-1536A>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826273	NM_000390.4(CHM):c.435A>G (p.Ser145=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2825642	NM_000390.4(CHM):c.1458T>G (p.Ala486=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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