ClinVar for Gene (Select 9213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3191276	NM_004736.4(XPR1):c.1292C>T (p.Pro431Leu)	XPR1 (P431L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065743	NM_004736.4(XPR1):c.863A>G (p.Asn288Ser)	XPR1 (N288S)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 6	GLikely pathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 3040881	NM_004736.4(XPR1):c.2030+4T>C	XPR1	Single nucleotide variant (intron variant)	XPR1-related disorder	GLikely benign
Select item 3021567	NM_004736.4(XPR1):c.70-13T>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009692	NM_004736.4(XPR1):c.360G>A (p.Glu120=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000481	NM_004736.4(XPR1):c.1751T>C (p.Leu584Ser)	XPR1 (L584S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997868	NM_004736.4(XPR1):c.2031-14C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995584	NM_004736.4(XPR1):c.636A>G (p.Gln212=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986262	NM_004736.4(XPR1):c.2050A>G (p.Lys684Glu)	XPR1 (K684E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986261	NM_004736.4(XPR1):c.2031-18C>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984976	NM_004736.4(XPR1):c.432G>A (p.Leu144=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984748	NM_004736.4(XPR1):c.1074C>T (p.Phe358=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979379	NM_004736.4(XPR1):c.122-20A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974910	NM_004736.4(XPR1):c.1307-17C>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968548	NM_004736.4(XPR1):c.763+15T>G	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967846	NM_004736.4(XPR1):c.272T>C (p.Leu91Pro)	XPR1 (L91P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963077	NM_004736.4(XPR1):c.1611C>T (p.Phe537=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961250	NM_004736.4(XPR1):c.328C>T (p.Arg110Cys)	XPR1 (R110C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959294	NM_004736.4(XPR1):c.448-15C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919732	NM_004736.4(XPR1):c.985C>T (p.Leu329=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2912858	NM_004736.4(XPR1):c.903C>T (p.Leu301=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900706	NM_004736.4(XPR1):c.1734G>A (p.Ser578=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2868061	NM_004736.4(XPR1):c.1785C>T (p.Val595=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855096	NM_004736.4(XPR1):c.509C>T (p.Ser170Phe)	XPR1 (S170F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851811	NM_004736.4(XPR1):c.1630A>G (p.Asn544Asp)	XPR1 (N544D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832294	NM_004736.4(XPR1):c.1809-9T>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810279	NM_004736.4(XPR1):c.1134+7C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807119	NM_004736.4(XPR1):c.1035T>C (p.Tyr345=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794513	NM_004736.4(XPR1):c.138A>G (p.Thr46=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783892	NM_004736.4(XPR1):c.69+10C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749224	NM_004736.4(XPR1):c.1800G>A (p.Glu600=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2730919	NM_004736.4(XPR1):c.130G>A (p.Glu44Lys)	XPR1 (E44K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728916	NM_004736.4(XPR1):c.766G>A (p.Val256Ile)	XPR1 (V256I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2717654	NM_004736.4(XPR1):c.1746_1751del (p.Thr583_Leu584del)	XPR1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2716285	NM_004736.4(XPR1):c.2048C>G (p.Thr683Ser)	XPR1 (T618S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716068	NM_004736.4(XPR1):c.1908A>C (p.Ala636=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711637	NM_004736.4(XPR1):c.1257G>C (p.Leu419Phe)	XPR1 (L419F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702518	NM_004736.4(XPR1):c.558T>C (p.Tyr186=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662874	NM_004736.4(XPR1):c.26C>G (p.Ala9Gly)	XPR1 (A9G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627219	NM_004736.4(XPR1):c.1502-13C>A	XPR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2619617	NM_004736.4(XPR1):c.1084C>G (p.Pro362Ala)	XPR1 (P362A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614951	NM_004736.4(XPR1):c.317C>T (p.Thr106Met)	XPR1 (T106M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605632	NM_004736.4(XPR1):c.575A>C (p.Asn192Thr)	XPR1 (N192T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579555	NM_004736.4(XPR1):c.143A>G (p.Lys48Arg)	XPR1 (K48R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579435	NM_004736.4(XPR1):c.1780A>G (p.Thr594Ala)	XPR1 (T529A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579419	NM_004736.4(XPR1):c.421A>G (p.Ser141Gly)	XPR1 (S141G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577775	NM_004736.4(XPR1):c.605T>G (p.Val202Gly)	XPR1 (V202G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575600	NM_004736.4(XPR1):c.1134+1G>C	XPR1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2547530	NM_004736.4(XPR1):c.1082A>G (p.Asn361Ser)	XPR1 (N361S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506310	NM_004736.4(XPR1):c.1213G>A (p.Val405Met)	XPR1 (V405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496287	NM_004736.4(XPR1):c.1655T>C (p.Val552Ala)	XPR1 (V487A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494141	NM_004736.4(XPR1):c.1696G>A (p.Asp566Asn)	XPR1 (D566N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444847	NM_004736.4(XPR1):c.515G>A (p.Gly172Glu)	XPR1 (G172E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425214	NC_000001.10:g.(?_180601338)_(180794500_?)dup	XPR1	Duplication	not provided	GUncertain significance
Select item 2425213	NC_000001.10:g.(?_180793869)_(180794500_?)del	XPR1	Deletion	not provided	GUncertain significance
Select item 2417228	NM_004736.4(XPR1):c.231C>T (p.Leu77=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2347652	NM_004736.4(XPR1):c.278C>T (p.Ser93Leu)	XPR1 (S93L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2328397	NM_004736.4(XPR1):c.537C>G (p.His179Gln)	XPR1 (H179Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302804	NM_004736.4(XPR1):c.398T>A (p.Leu133Gln)	XPR1 (L133Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268726	NM_004736.4(XPR1):c.1906G>A (p.Ala636Thr)	XPR1 (A571T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192571	NM_004736.4(XPR1):c.222A>G (p.Ser74=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2189475	NM_004736.4(XPR1):c.2074G>A (p.Asp692Asn)	XPR1 (D692N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2189087	NM_004736.4(XPR1):c.867G>A (p.Thr289=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2183909	NM_004736.4(XPR1):c.663C>A (p.Pro221=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2174213	NM_004736.4(XPR1):c.1330A>G (p.Thr444Ala)	XPR1 (T444A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136082	NM_004736.4(XPR1):c.122-1G>C	XPR1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2112100	NM_004736.4(XPR1):c.1491C>A (p.Ser497Arg)	XPR1 (S497R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111595	NM_004736.4(XPR1):c.1094C>T (p.Thr365Ile)	XPR1 (T365I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107587	NM_004736.4(XPR1):c.815A>G (p.Tyr272Cys)	XPR1 (Y272C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2104067	NM_004736.4(XPR1):c.1878G>A (p.Val626=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2103309	NM_004736.4(XPR1):c.171G>C (p.Lys57Asn)	XPR1 (K57N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2100196	NM_004736.4(XPR1):c.1869C>T (p.Phe623=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099651	NM_004736.4(XPR1):c.1669-11T>G	XPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2057077	NM_004736.4(XPR1):c.2000T>C (p.Ile667Thr)	XPR1 (I602T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055998	NM_004736.4(XPR1):c.1515G>A (p.Ser505=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053888	NM_004736.4(XPR1):c.1964G>A (p.Arg655His)	XPR1 (R655H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2021456	NM_004736.4(XPR1):c.1695G>A (p.Glu565=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2021152	NM_004736.4(XPR1):c.1482C>A (p.Ala494=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2012820	NM_004736.4(XPR1):c.1748C>T (p.Thr583Ile)	XPR1 (T583I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2006022	NM_004736.4(XPR1):c.1355A>G (p.Gln452Arg)	XPR1 (Q452R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987577	NM_004736.4(XPR1):c.223+27del	XPR1	Deletion (intron variant)	not provided	GBenign
Select item 1980623	NM_004736.4(XPR1):c.2042G>A (p.Arg681His)	XPR1 (R616H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969799	NM_004736.4(XPR1):c.597+3A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1964213	NM_004736.4(XPR1):c.1266A>C (p.Lys422Asn)	XPR1 (K422N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950032	NM_004736.4(XPR1):c.448-17C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948000	NM_004736.4(XPR1):c.1715C>T (p.Ala572Val)	XPR1 (A507V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937231	NM_004736.4(XPR1):c.66T>C (p.Tyr22=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1936816	NM_004736.4(XPR1):c.1501+6C>T	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1936449	NM_004736.4(XPR1):c.1514C>T (p.Ser505Leu)	XPR1 (S440L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933348	NM_004736.4(XPR1):c.1271A>G (p.Asp424Gly)	XPR1 (D424G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931495	NM_004736.4(XPR1):c.1976G>A (p.Arg659Gln)	XPR1 (R659Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931060	NM_004736.4(XPR1):c.598-20G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928970	NM_004736.4(XPR1):c.243G>A (p.Gln81=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927530	NM_004736.4(XPR1):c.2008C>T (p.Arg670Cys)	XPR1 (R605C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926266	NM_004736.4(XPR1):c.318G>A (p.Thr106=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922355	NM_004736.4(XPR1):c.348C>T (p.His116=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919726	NM_004736.4(XPR1):c.597+14G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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