ClinVar for PubMed (Select 21844811) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1328465	GRCh37/hg19 15q13.2-13.3(chr15:30935361-32444840)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1328112	GRCh37/hg19 16p11.2(chr16:29606372-30199622)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180509	GRCh37/hg19 16p11.2(chr16:29615859-30199454)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	GPathogenic
Select item 997044	GRCh37/hg19 17q12(chr17:34817422-36243028)	AATF, ACACA +13 more	Copy number gain	Positional foot deformity	GPathogenic
Select item 988904	GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	TMEM88B, TNFRSF18 +45 more	Copy number loss	not provided	GPathogenic
Select item 638126	GRCh37/hg19 Xp22.31(chrX:6596639-8135053)x3	PNPLA4, PUDP +2 more	Copy number gain	See cases	GLikely pathogenic
Select item 638104	GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3	ABCC1, ABCC6 +8 more	Copy number gain	See cases	GPathogenic
Select item 503581	GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4	ABCC1, ABCC6 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 503580	GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3	ABCC1, ABCC6 +12 more	Copy number gain	See cases	GLikely pathogenic
Select item 446701	GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3	ARRDC1, ARRDC1-AS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 446340	GRCh37/hg19 Xp22.31(chrX:6179830-8605251)x2	ANOS1, PNPLA4 +6 more	Copy number gain	See cases	GLikely pathogenic
Select item 424862	GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3		Copy number gain	See cases	GPathogenic
Select item 424857	GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3		Copy number gain	See cases	GPathogenic
Select item 236377	Single allele	AATF, LHX1 +13 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236375	Single allele	ACP6, BCL9 +6 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236374	Single allele	NBPF12, ACP6 +7 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236373	Single allele	GOLGA6L2, HERC2 +22 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236372	Single allele	POTEB, POTEB2 +32 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236371	Single allele	POTEB, POTEB2 +27 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236370	Single allele	SNORD115-1, HERC2 +9 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236369	Single allele	MTMR10, OTUD7A +5 more	Deletion	Autism spectrum disorder	GPathogenic
Select item 236322	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236321	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236320	Single allele		Duplication	Autism spectrum disorder	GUncertain significance
Select item 236319	Single allele		Deletion	Autism spectrum disorder	GPathogenic
Select item 236318	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236317	Single allele		Deletion	Autism spectrum disorder	GPathogenic
Select item 236316	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236315	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236314	Single allele		Deletion	Autism spectrum disorder	GPathogenic
Select item 236313	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236312	Single allele		Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 236311	Single allele		Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 236310	Single allele		Deletion	Autism spectrum disorder	GPathogenic
Select item 236309	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236308	Single allele		Duplication	Autism spectrum disorder	GPathogenic
Select item 236307	Single allele		Duplication	Autism spectrum disorder	GUncertain significance
Select item 236306	Single allele		Deletion	Autism spectrum disorder	GPathogenic
Select item 236304	Single allele		Deletion	Autism spectrum disorder	GPathogenic
Select item 219023	GRCh37/hg19 Xq26.2(chrX:131885089-132500236)x2	GPC4, HS6ST2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 219018	GRCh37/hg19 Xp22.31(chrX:6477550-8119329)x2	PNPLA4, PUDP +2 more	Copy number gain	See cases	GLikely pathogenic
Select item 202233	GRCh37/hg19 Xp22.2(chrX:11541839-12655449)x3	ARHGAP6, FRMPD4 +1 more	Copy number gain	See cases	GUncertain significance
Select item 193029	NCBI36/hg18 4q13.2(chr4:69085386-69688461)x1		Copy number loss	See cases	GBenign
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161090	GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1	ALDOA, ASPHD1 +111 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161087	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +119 more	Copy number loss	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 161085	GRCh38/hg38 11p15.5(chr11:196966-244236)x1	BET1L, CIMAP1A +8 more	Copy number loss	See cases	GUncertain significance
Select item 161083	GRCh38/hg38 14q32.33(chr14:106112755-106318409)x3	IGH, IGHV1-18 +12 more	Copy number gain	See cases	GBenign
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 161081	GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 161078	GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	FAM72C, PPIAL4C +1 more	Copy number gain	See cases	GBenign
Select item 161077	GRCh38/hg38 9p24.3(chr9:204193-332515)x1	DOCK8, DOCK8-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 161076	GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1	ARHGAP11B, ARHGAP11B-DT +35 more	Copy number loss	See cases	GPathogenic
Select item 161075	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3	ABCC1, ABCC6 +64 more	Copy number gain	See cases	GUncertain significance
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 161072	GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161070	GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3	DEFB103A, DEFB104A +28 more	Copy number gain	See cases	GBenign
Select item 161069	GRCh38/hg38 2q13(chr2:110104900-110371270)x3	LIMS4, LOC126806305 +8 more	Copy number gain	See cases	GBenign
Select item 161067	GRCh38/hg38 6p25.3(chr6:266079-339802)x3	DUSP22, LOC126859546 +20 more	Copy number gain	See cases	GBenign
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 161065	GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 161064	GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3	LOC100131472, LOC110120772 +11 more	Copy number gain	See cases	GUncertain significance
Select item 161063	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 161061	GRCh38/hg38 4q22.1-22.2(chr4:92513191-94071223)x3	ATOH1, GRID2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 161060	GRCh38/hg38 7q11.22(chr7:70891025-71072442)x3	LOC129998575	Copy number gain	See cases	GUncertain significance
Select item 161059	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 161055	GRCh38/hg38 22q13.33(chr22:50658268-50739836)x1	ACR, LOC105373100 +3 more	Copy number loss	See cases	GPathogenic
Select item 161054	GRCh38/hg38 Xq28(chrX:156001591-156022206)x0	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 161053	GRCh38/hg38 Xq28(chrX:156001591-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 161052	GRCh38/hg38 3p26.3-26.2(chr3:2220949-2920945)x3	CNTN4, LOC107522028 +5 more	Copy number gain	See cases	GUncertain significance
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 161050	GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3	CYFIP1, LOC112272575 +17 more	Copy number gain	See cases	GUncertain significance
Select item 161049	GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1	ARVCF, C22orf39 +120 more	Copy number loss	See cases	GPathogenic
Select item 161048	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	AIFM3, ARVCF +195 more	Copy number loss	See cases	GPathogenic
Select item 161047	GRCh38/hg38 Xq27.1-27.2(chrX:141160282-141469623)x0	LDOC1, SPANXC	Copy number loss	See cases	GUncertain significance
Select item 161046	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 161043	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 161042	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 161035	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 161031	GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1	LOC284344, PSG1 +10 more	Copy number loss	See cases	GBenign
Select item 161030	GRCh38/hg38 3p26.3(chr3:868334-1341994)x1	CNTN6, LOC126806587	Copy number loss	See cases	GUncertain significance
Select item 161029	GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3	LOC284344, PSG1 +10 more	Copy number gain	See cases	GBenign
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 161027	GRCh38/hg38 6q27(chr6:167963663-168157303)x3	AFDN, FRMD1 +5 more	Copy number gain	See cases	GBenign

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