ClinVar for Gene (Select 643155) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320973	NM_001048249.4(SMIM15):c.136A>G (p.Lys46Glu)	SMIM15 (K46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062834	GRCh37/hg19 5q12.1(chr5:60111731-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062814	GRCh37/hg19 5q12.1(chr5:60276865-60467589)x1	NDUFAF2, SMIM15	Copy number loss	not specified	GPathogenic
Select item 2609470	NM_001048249.4(SMIM15):c.194T>C (p.Ile65Thr)	SMIM15 (I65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523958	NM_001048249.4(SMIM15):c.182G>A (p.Arg61His)	SMIM15 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337588	NM_001048249.4(SMIM15):c.172A>C (p.Lys58Gln)	SMIM15 (K58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807653	GRCh37/hg19 5q12.1(chr5:60040060-60643659)x3	ELOVL7, ERCC8 +3 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 1527165	GRCh37/hg19 5q12.1(chr5:59929560-61133024)	C5orf64, DEPDC1B +5 more	Copy number loss	not specified	GUncertain significance
Select item 1448062	NC_000005.9:g.(?_60170442)_(60790257_?)dup	ZSWIM6, SMIM15 +2 more	Duplication	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 687591	GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687355	GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687246	GRCh37/hg19 5q12.1(chr5:60101557-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685888	GRCh37/hg19 5q12.1(chr5:60116532-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	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 221383	GRCh37/hg19 5q12.1(chr5:60240797-61658323)x3	ERCC8, KIF2A +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27