ClinVar for Gene (Select 80790) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358037	NM_198390.3(CMIP):c.1483G>A (p.Glu495Lys)	CMIP (E401K +1 more)	Single nucleotide variant (missense variant)	CMIP-related disorder	GUncertain significance
Select item 3267972	NM_198390.3(CMIP):c.772G>T (p.Val258Leu)	CMIP (V164L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267971	NM_198390.3(CMIP):c.412A>G (p.Thr138Ala)	CMIP (T44A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267970	NM_198390.3(CMIP):c.1348G>A (p.Asp450Asn)	CMIP (D450N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267969	NM_198390.3(CMIP):c.1309G>A (p.Ala437Thr)	CMIP (A343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267968	NM_198390.3(CMIP):c.2038G>A (p.Glu680Lys)	CMIP (E586K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267967	NM_198390.3(CMIP):c.130C>A (p.Leu44Ile)	CMIP (L44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3243510	NC_000016.9:g.(?_81116471)_(81991603_?)dup	CMIP, GAN +4 more	Duplication	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3146215	NM_198390.3(CMIP):c.669A>T (p.Glu223Asp)	CMIP (E223D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146214	NM_198390.3(CMIP):c.1594G>A (p.Gly532Arg)	CMIP (G438R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146213	NM_198390.3(CMIP):c.1355C>T (p.Thr452Met)	CMIP (T358M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063447	GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3055438	NM_198390.3(CMIP):c.2091+5G>A	CMIP	Single nucleotide variant (intron variant)	CMIP-related disorder	GBenign
Select item 3053300	NM_198390.3(CMIP):c.2091+4C>T	CMIP	Single nucleotide variant (intron variant)	CMIP-related disorder	GLikely benign
Select item 3050507	NM_198390.3(CMIP):c.759G>A (p.Arg253=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 3045065	NM_198390.3(CMIP):c.1896+8C>T	CMIP	Single nucleotide variant (intron variant)	CMIP-related disorder	GLikely benign
Select item 3042535	NM_198390.3(CMIP):c.1614T>C (p.Asp538=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 3038003	NM_198390.3(CMIP):c.1011C>G (p.Ser337=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 3037477	NM_198390.3(CMIP):c.2043C>T (p.His681=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 3035788	NM_198390.3(CMIP):c.966G>T (p.Arg322=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 3033990	NM_198390.3(CMIP):c.846A>C (p.Arg282=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 3030644	NM_198390.3(CMIP):c.595A>G (p.Ile199Val)	CMIP (I105V +1 more)	Single nucleotide variant (missense variant)	CMIP-related disorder	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 2633782	NM_198390.3(CMIP):c.274G>A (p.Ala92Thr)	CMIP, LOC130059505 (A92T)	Single nucleotide variant (missense variant)	CMIP-related disorder	GUncertain significance
Select item 2631554	NM_198390.3(CMIP):c.300+1del	CMIP, LOC130059505	Deletion (splice donor variant)	CMIP-related disorder	GUncertain significance
Select item 2612482	NM_198390.3(CMIP):c.1630G>A (p.Ala544Thr)	CMIP (A450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601654	NM_198390.3(CMIP):c.1360G>A (p.Gly454Ser)	CMIP (G360S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599221	NM_198390.3(CMIP):c.1506G>T (p.Arg502Ser)	CMIP (R408S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541617	NM_198390.3(CMIP):c.296C>T (p.Ala99Val)	CMIP, LOC130059505 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527667	NM_198390.3(CMIP):c.40C>G (p.Arg14Gly)	CMIP (R14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515032	NM_198390.3(CMIP):c.1813A>G (p.Ile605Val)	CMIP (I511V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510101	NM_198390.3(CMIP):c.685A>G (p.Ile229Val)	CMIP (I135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480841	NM_198390.3(CMIP):c.19T>G (p.Ser7Ala)	CMIP (S7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387201	NM_198390.3(CMIP):c.32G>A (p.Gly11Asp)	CMIP (G11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386901	NM_198390.3(CMIP):c.1513G>A (p.Glu505Lys)	CMIP (E411K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386521	NM_198390.3(CMIP):c.1561G>A (p.Gly521Ser)	CMIP (G427S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359037	NM_198390.3(CMIP):c.349G>A (p.Val117Ile)	CMIP (V23I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356553	NM_198390.3(CMIP):c.1180T>G (p.Ser394Ala)	CMIP (S394A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337120	NM_198390.3(CMIP):c.1355C>G (p.Thr452Arg)	CMIP (T358R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331649	NM_198390.3(CMIP):c.1310C>T (p.Ala437Val)	CMIP (A437V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328094	NM_198390.3(CMIP):c.1250C>T (p.Thr417Met)	CMIP (T323M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323725	NM_198390.3(CMIP):c.1340C>A (p.Pro447His)	CMIP (P447H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303067	NM_198390.3(CMIP):c.866A>G (p.Glu289Gly)	CMIP (E195G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286830	NM_198390.3(CMIP):c.1850G>A (p.Arg617His)	CMIP (R617H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265699	NM_198390.3(CMIP):c.209C>G (p.Thr70Ser)	CMIP (T70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263011	NM_198390.3(CMIP):c.2054T>G (p.Leu685Arg)	CMIP (L685R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256486	NM_198390.3(CMIP):c.80T>C (p.Val27Ala)	CMIP (V27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244630	NM_198390.3(CMIP):c.337G>A (p.Ala113Thr)	CMIP (A19T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222430	NM_198390.3(CMIP):c.529G>T (p.Val177Phe)	CMIP (V83F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203818	NM_198390.3(CMIP):c.1157C>T (p.Thr386Met)	CMIP (T386M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808368	GRCh37/hg19 16q23.2-23.3(chr16:81697343-81773209)x1	CMIP	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526531	GRCh37/hg19 16q23.2(chr16:80976347-81647826)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979478	GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1	ATMIN, BCO1 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 931712	NM_198390.3(CMIP):c.1035-1G>A	CMIP	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 815852	GRCh37/hg19 16q23.2(chr16:81517118-81579666)x1	CMIP	Copy number loss	not provided	GUncertain significance
Select item 815850	GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1	CDYL2, CENPN +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 799744	NM_198390.3(CMIP):c.825+10C>T	CMIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798678	NM_198390.3(CMIP):c.745-10C>T	CMIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787562	NM_198390.3(CMIP):c.1388+13_1388+15dup	CMIP	Duplication (intron variant)	not provided	GLikely benign
Select item 787127	NM_198390.3(CMIP):c.1388+15del	CMIP	Deletion (intron variant)	not provided	GBenign
Select item 786295	NM_198390.3(CMIP):c.355C>T (p.Leu119=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781342	NM_198390.3(CMIP):c.1638+4C>A	CMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773307	NM_198390.3(CMIP):c.929+10C>T	CMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769906	NM_198390.3(CMIP):c.2106C>A (p.Gly702=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756537	NM_198390.3(CMIP):c.765G>A (p.Arg255=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756352	NM_198390.3(CMIP):c.1086G>A (p.Pro362=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752909	NM_198390.3(CMIP):c.1551C>T (p.Ser517=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750751	NM_198390.3(CMIP):c.1105T>C (p.Leu369=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749648	NM_198390.3(CMIP):c.1638+10G>A	CMIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744915	NM_198390.3(CMIP):c.438C>T (p.Ser146=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744742	NM_198390.3(CMIP):c.1608C>T (p.Cys536=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740014	NM_198390.3(CMIP):c.1188C>T (p.Val396=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739872	NM_198390.3(CMIP):c.693T>G (p.Pro231=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739625	NM_198390.3(CMIP):c.1677A>G (p.Lys559=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735185	NM_198390.3(CMIP):c.1368C>T (p.Tyr456=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735031	NM_198390.3(CMIP):c.553C>T (p.Leu185=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734855	NM_198390.3(CMIP):c.1388+10C>A	CMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733178	NM_198390.3(CMIP):c.1638+5G>A	CMIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731192	NM_198390.3(CMIP):c.2198-10del	CMIP	Deletion (intron variant)	not provided	GLikely benign
Select item 731127	NM_198390.3(CMIP):c.2229C>T (p.Asn743=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723542	NM_198390.3(CMIP):c.90C>G (p.Pro30=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720533	NM_198390.3(CMIP):c.2269-10C>T	CMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717423	NM_198390.3(CMIP):c.2133C>G (p.Thr711=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717038	NM_198390.3(CMIP):c.1641G>A (p.Val547=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713821	NM_198390.3(CMIP):c.885C>T (p.Asn295=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711135	NM_198390.3(CMIP):c.336C>T (p.Ser112=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708840	NM_198390.3(CMIP):c.1242G>A (p.Pro414=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708698	NM_198390.3(CMIP):c.1389-4C>G	CMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 691425	NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser)	CMIP (T399S +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 688745	GRCh37/hg19 16q23.2-23.3(chr16:81185877-81773026)x1	BCO1, CMIP +2 more	Copy number loss	not provided	GUncertain significance
Select item 564359	GRCh37/hg19 16q23.2-23.3(chr16:81188538-81773209)x1	CMIP, GAN +2 more	Copy number loss	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic

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