CMIP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	ARLNC1, ATMIN +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	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 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
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 2527667	NM_198390.3(CMIP):c.40C>G (p.Arg14Gly)	CMIP (R14G)	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 723542	NM_198390.3(CMIP):c.90C>G (p.Pro30=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2541617	NM_198390.3(CMIP):c.296C>T (p.Ala99Val)	CMIP, LOC130059505 (A99V)	Single nucleotide variant (missense variant)	not specified	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 711135	NM_198390.3(CMIP):c.336C>T (p.Ser112=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder +1 more	GLikely benign
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 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 786295	NM_198390.3(CMIP):c.355C>T (p.Leu119=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744915	NM_198390.3(CMIP):c.438C>T (p.Ser146=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 735031	NM_198390.3(CMIP):c.553C>T (p.Leu185=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	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 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 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 739872	NM_198390.3(CMIP):c.693T>G (p.Pro231=)	CMIP	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3050507	NM_198390.3(CMIP):c.759G>A (p.Arg253=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 756537	NM_198390.3(CMIP):c.765G>A (p.Arg255=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799744	NM_198390.3(CMIP):c.825+10C>T	CMIP	Single nucleotide variant (intron variant)	not provided	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 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 713821	NM_198390.3(CMIP):c.885C>T (p.Asn295=)	CMIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 773307	NM_198390.3(CMIP):c.929+10C>T	CMIP	Single nucleotide variant (intron variant)	CMIP-related disorder +1 more	GBenign/Likely 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 3038003	NM_198390.3(CMIP):c.1011C>G (p.Ser337=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder	GLikely benign
Select item 931712	NM_198390.3(CMIP):c.1035-1G>A	CMIP	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 756352	NM_198390.3(CMIP):c.1086G>A (p.Pro362=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750751	NM_198390.3(CMIP):c.1105T>C (p.Leu369=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 740014	NM_198390.3(CMIP):c.1188C>T (p.Val396=)	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 +1 more	GBenign
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 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 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 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 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 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 735185	NM_198390.3(CMIP):c.1368C>T (p.Tyr456=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder +1 more	GBenign/Likely 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 734855	NM_198390.3(CMIP):c.1388+10C>A	CMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708698	NM_198390.3(CMIP):c.1389-4C>G	CMIP	Single nucleotide variant (intron variant)	not provided +1 more	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 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 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 752909	NM_198390.3(CMIP):c.1551C>T (p.Ser517=)	CMIP	Single nucleotide variant (synonymous variant)	CMIP-related disorder +1 more	GBenign
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 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 744742	NM_198390.3(CMIP):c.1608C>T (p.Cys536=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	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 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 781342	NM_198390.3(CMIP):c.1638+4C>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 749648	NM_198390.3(CMIP):c.1638+10G>A	CMIP	Single nucleotide variant (intron 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 739625	NM_198390.3(CMIP):c.1677A>G (p.Lys559=)	CMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3045065	NM_198390.3(CMIP):c.1896+8C>T	CMIP	Single nucleotide variant (intron 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 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 3053300	NM_198390.3(CMIP):c.2091+4C>T	CMIP	Single nucleotide variant (intron variant)	CMIP-related disorder	GLikely benign
Select item 3055438	NM_198390.3(CMIP):c.2091+5G>A	CMIP	Single nucleotide variant (intron variant)	CMIP-related disorder	GBenign
Select item 769906	NM_198390.3(CMIP):c.2106C>A (p.Gly702=)	CMIP	Single nucleotide variant (synonymous 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 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)	CMIP-related disorder +1 more	GLikely benign
Select item 720533	NM_198390.3(CMIP):c.2269-10C>T	CMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3063447	GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3	ATMIN, BCO1 +7 more	Copy number gain	not specified	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 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	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic

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