SMIM15[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	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 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
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 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 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 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 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

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Items: 27