ClinVar for Gene (Select 91408) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262040	NM_152265.5(BTF3L4):c.40C>T (p.Arg14Trp)	BTF3L4 (R14W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135474	NM_152265.5(BTF3L4):c.37G>T (p.Val13Phe)	BTF3L4 (V13F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2551166	NM_152265.5(BTF3L4):c.364C>T (p.Arg122Trp)	BTF3L4 (R64W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540395	NM_152265.5(BTF3L4):c.200T>C (p.Ile67Thr)	BTF3L4 (I9T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405154	NM_152265.5(BTF3L4):c.257C>T (p.Thr86Ile)	BTF3L4 (T86I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261562	NM_152265.5(BTF3L4):c.19G>A (p.Ala7Thr)	BTF3L4 (A7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 980376	GRCh37/hg19 1p32.3(chr1:52521004-52730440)x3	BTF3L4, ZFYVE9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687928	GRCh37/hg19 1p32.3(chr1:52548049-52693660)x3	BTF3L4, ZFYVE9	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic