ClinVar for Gene (Select 285672) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062873	GRCh37/hg19 5q12.3(chr5:64049693-64166882)x1	CWC27, SREK1IP1	Copy number loss	not specified	GUncertain significance
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2484075	NM_173829.4(SREK1IP1):c.206G>A (p.Arg69Lys)	SREK1IP1 (R69K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367360	NM_173829.4(SREK1IP1):c.335A>T (p.Tyr112Phe)	SREK1IP1 (Y112F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300124	NM_173829.4(SREK1IP1):c.121G>A (p.Val41Ile)	SREK1IP1 (V41I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 979680	GRCh37/hg19 5q12.3(chr5:63827760-64499916)x3	ADAMTS6, RGS7BP +3 more	Copy number gain	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, C5orf64 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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 152782	GRCh38/hg38 5q12.3(chr5:64636054-64813311)x3	CWC27, LOC121725205 +5 more	Copy number gain	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic