C1510586[trait identifier] AND "Genetics Department, Polish Mother's M - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024376	GRCh38/hg38 1q31.2-31.3(chr1:193733481-196205927)	LINC01724, LOC121725067 +19 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024176	NC_000002.12:g.(?_1852302)_(2191394_?)dup	LOC129932982, MYT1L	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 3024175	NC_000002.12:g.(?_50574106)_(50580198_?)del	NRXN1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024346	GRCh38/hg38 2p16.3(chr2:50590007-50802034)	LOC110121071, LOC129388861 +2 more	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024380	GRCh38/hg38 3p13(chr3:71518345-71562911)	FOXP1, LOC110121007 +1 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024089	NC_000003.12:g.(?_175372620)_(176011214_?)del	LOC132088905, NAALADL2 +1 more	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024384	GRCh38/hg38 4q35.2(chr4:187200844-188870692)	LINC01060, LINC02374 +27 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 3024364	GRCh38/hg38 5p13.2(chr5:33977416-34745466)	AMACR, C1QTNF3 +17 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024385	GRCh38/hg38 5q23.1(chr5:119555413-119745470)	FAM170A, LOC129994462	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	LOC129389578, LOC129996811 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024370	GRCh38/hg38 7p21.3(chr7:12875659-13231798)	LOC123924905, LOC123924906 +7 more	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024375	GRCh38/hg38 7q34(chr7:140901060-141011481)	BRAF, LOC129999507 +1 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024371	GRCh38/hg38 7q35(chr7:146320644-146339450)	CNTNAP2	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 3024179	NC_000007.14:g.(?_148411122)_(148421361_?)dup	CNTNAP2	Duplication	Autism spectrum disorder	GUncertain significance
Select item 3024212	GRCh38/hg38 10p11.21(chr10:34891282-35211554)	CREM, CUL2 +13 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	LOC129390584, LOC130009080 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024386	GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)	LINC00871, LOC126861932 +5 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024383	GRCh38/hg38 15q11.2(chr15:22633497-23084434)	CYFIP1, LOC112272575 +18 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024381	GRCh38/hg38 16p13.11(chr16:15399656-16194269)	ABCC1, ABCC6 +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024373	GRCh38/hg38 17p13.3(chr17:2500691-2687314)	LOC125177406, LOC129390821 +7 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024367	GRCh38/hg38 18p11.21(chr18:12244578-12507815)	AFG3L2, CIDEA +11 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024177	NC_000023.11:g.(?_28852188)_(28855815_?)del	IL1RAPL1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024174	NC_000023.11:g.(?_80671287)_(80671570_?)dup	BRWD3	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 3024178	NC_000023.11:g.(?_100366731)_(100369616_?)del	PCDH19	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024377	GRCh38/hg38 Xq24(chrX:119146025-119709342)	KIAA1210, LINC03098 +38 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024366	GRCh38/hg38 Xq28(chrX:152819425-152869723)	CETN2, LOC126863347 +2 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic

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Items: 38