ClinVar for Gene (Select 25859) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1808186	GRCh37/hg19 5q12.1(chr5:59697880-60026236)x3	DEPDC1B, PART1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1706518	GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1	ZSWIM6, C5orf64 +12 more	Copy number loss	See cases	GPathogenic
Select item 1527164	GRCh37/hg19 5q12.1(chr5:59698068-60053255)	DEPDC1B, ELOVL7 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1340366	GRCh37/hg19 5q12.1(chr5:59759041-59842870)x1	PART1, PDE4D	Copy number loss	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 687723	GRCh37/hg19 5q12.1(chr5:59842939-60331361)x1	DEPDC1B, ELOVL7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 560134	Single allele	PART1, LOC129993943 +6 more	Deletion	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 446324	GRCh37/hg19 5q12.1(chr5:59532458-59859175)x1	PART1, PDE4D	Copy number loss	See cases	GUncertain significance
Select item 442491	GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1	DEPDC1B, DIMT1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic