CRAT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 3233990	NM_000755.5(CRAT):c.1870dup (p.Ala624fs)	CRAT (A579fs +5 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1167631	NM_000755.5(CRAT):c.1870G>C (p.Ala624Pro)	CRAT (A579P +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377715	NM_000755.5(CRAT):c.1868G>A (p.Arg623Gln)	CRAT (R578Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1914667	NM_000755.5(CRAT):c.1867C>T (p.Arg623Trp)	CRAT (R599W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176289	NM_000755.5(CRAT):c.1867del (p.Arg623fs)	CRAT (R578fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2487641	NM_000755.5(CRAT):c.1844G>A (p.Arg615His)	CRAT (R615H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1598787	NM_000755.5(CRAT):c.1844G>T (p.Arg615Leu)	CRAT (R570L +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2053331	NM_000755.5(CRAT):c.1843C>T (p.Arg615Cys)	CRAT (R594C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519899	NM_000755.5(CRAT):c.1841T>C (p.Met614Thr)	CRAT (M569T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013431	NM_000755.5(CRAT):c.1830G>C (p.Ala610=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913545	NM_000755.5(CRAT):c.1820T>C (p.Leu607Pro)	CRAT (L586P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057186	NM_000755.5(CRAT):c.1814A>G (p.His605Arg)	CRAT (H560R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2419947	NM_000755.5(CRAT):c.1811C>T (p.Ala604Val)	CRAT (A559V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2602357	NM_000755.5(CRAT):c.1805G>A (p.Arg602His)	CRAT (R557H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2962844	NM_000755.5(CRAT):c.1798G>A (p.Ala600Thr)	CRAT (A555T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1598967	NM_000755.5(CRAT):c.1797C>T (p.Asn599=)	CRAT	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 8 +1 more	GBenign/Likely benign
Select item 2960947	NM_000755.5(CRAT):c.1792A>G (p.Thr598Ala)	CRAT (T577A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3077242	NM_000755.5(CRAT):c.1789G>A (p.Glu597Lys)	CRAT (E576K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405913	NM_000755.5(CRAT):c.1787C>T (p.Ala596Val)	CRAT (A551V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190140	NM_000755.5(CRAT):c.1786G>A (p.Ala596Thr)	CRAT (A596T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553170	NM_000755.5(CRAT):c.1785C>T (p.Cys595=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384605	NM_000755.5(CRAT):c.1784G>T (p.Cys595Phe)	CRAT (C571F +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3269413	NM_000755.5(CRAT):c.1777A>G (p.Asn593Asp)	CRAT (N548D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443521	NM_000755.5(CRAT):c.1770G>A (p.Ser590=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2069042	NM_000755.5(CRAT):c.1769C>T (p.Ser590Leu)	CRAT (S545L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056693	NM_000755.5(CRAT):c.1765_1766del (p.Leu589fs)	CRAT (L544fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1656466	NM_000755.5(CRAT):c.1764C>T (p.Ser588=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688866	NM_000755.5(CRAT):c.1738C>T (p.Pro580Ser)	CRAT (P535S +5 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 8	GUncertain significance
Select item 2965401	NM_000755.5(CRAT):c.1734T>C (p.Tyr578=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974606	NM_000755.5(CRAT):c.1733A>G (p.Tyr578Cys)	CRAT (Y557C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961015	NM_000755.5(CRAT):c.1721A>G (p.Tyr574Cys)	CRAT (Y529C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518154	NM_000755.5(CRAT):c.1717G>A (p.Gly573Ser)	CRAT (G533S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045562	NM_000755.5(CRAT):c.1716C>T (p.Asp572=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508244	NM_000755.5(CRAT):c.1716C>G (p.Asp572Glu)	CRAT (D527E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979674	NM_000755.5(CRAT):c.1714G>A (p.Asp572Asn)	CRAT (D551N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611196	NM_000755.5(CRAT):c.1713C>T (p.Pro571=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2143536	NM_000755.5(CRAT):c.1710C>G (p.Val570=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 617561	NM_000755.5(CRAT):c.1705G>A (p.Val569Met)	CRAT (V569M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070494	NM_000755.5(CRAT):c.1704C>T (p.Pro568=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519454	NM_000755.5(CRAT):c.1699G>A (p.Gly567Arg)	CRAT (G522R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949631	NM_000755.5(CRAT):c.1672G>T (p.Ala558Ser)	CRAT (A518S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1109272	NM_000755.5(CRAT):c.1666-8G>A	CRAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653344	NM_000755.5(CRAT):c.1665+18G>A	CRAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135085	NM_000755.5(CRAT):c.1665+5_1665+9del	CRAT	Deletion (intron variant)	not provided	GUncertain significance
Select item 2089581	NM_000755.5(CRAT):c.1644C>T (p.His548=)	CRAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905220	NM_000755.5(CRAT):c.1636G>A (p.Ala546Thr)	CRAT (A506T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1346230	NM_000755.5(CRAT):c.1630G>A (p.Ala544Thr)	CRAT (A545T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2174205	NM_000755.5(CRAT):c.1606G>A (p.Asp536Asn)	CRAT (D496N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1415454	NM_000755.5(CRAT):c.1591C>G (p.Leu531Val)	CRAT (L510V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040371	NM_000755.5(CRAT):c.1588G>A (p.Asp530Asn)	CRAT (D490N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017825	NM_000755.5(CRAT):c.1584C>T (p.Ile528=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976250	NM_000755.5(CRAT):c.1575G>T (p.Leu525=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963339	NM_000755.5(CRAT):c.1567C>T (p.Leu523=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741915	NM_000755.5(CRAT):c.1557C>T (p.His519=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076628	NM_000755.5(CRAT):c.1553G>A (p.Arg518Gln)	CRAT (R518Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944337	NM_000755.5(CRAT):c.1536C>T (p.Arg512=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485972	NM_000755.5(CRAT):c.1534C>T (p.Arg512Cys)	CRAT (R491C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996954	NM_000755.5(CRAT):c.1464+306_1527+181del	CRAT	Deletion (splice acceptor variant +1 more)	See cases	GUncertain significance
Select item 1667917	NM_000755.5(CRAT):c.1527+13G>A	CRAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713176	NM_000755.5(CRAT):c.1527G>C (p.Arg509=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1961228	NM_000755.5(CRAT):c.1526G>C (p.Arg509Pro)	CRAT (R509P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269414	NM_000755.5(CRAT):c.1525C>T (p.Arg509Trp)	CRAT (R469W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077241	NM_000755.5(CRAT):c.1522G>A (p.Asp508Asn)	CRAT (D468N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2714710	NM_000755.5(CRAT):c.1522G>C (p.Asp508His)	CRAT (D487H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2177993	NM_000755.5(CRAT):c.1515C>G (p.Gly505=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601038	NM_000755.5(CRAT):c.1491G>A (p.Arg497=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1664969	NM_000755.5(CRAT):c.1479G>A (p.Val493=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001530	NM_000755.5(CRAT):c.1478T>G (p.Val493Gly)	CRAT (V472G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946712	NM_000755.5(CRAT):c.1464+18A>G	CRAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638101	NM_000755.5(CRAT):c.1464G>A (p.Thr488=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139731	NM_000755.5(CRAT):c.1463C>T (p.Thr488Met)	CRAT (T488M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1591306	NM_000755.5(CRAT):c.1458C>T (p.Ser486=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640077	NM_000755.5(CRAT):c.1452C>T (p.Asp484=)	CRAT	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 8 +1 more	GBenign/Likely benign
Select item 2068772	NM_000755.5(CRAT):c.1450G>T (p.Asp484Tyr)	CRAT (D444Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602818	NM_000755.5(CRAT):c.1428C>G (p.Leu476=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897186	NM_000755.5(CRAT):c.1410G>A (p.Ser470=)	CRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911527	NM_000755.5(CRAT):c.1406G>A (p.Arg469His)	CRAT (R429H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427580	NM_000755.5(CRAT):c.1405C>T (p.Arg469Cys)	CRAT (R448C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995097	NM_000755.5(CRAT):c.1396G>A (p.Asp466Asn)	CRAT (D445N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269415	NM_000755.5(CRAT):c.1391G>A (p.Arg464His)	CRAT (R464H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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