SELENOF[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 2568480	NM_004261.5(SELENOF):c.491G>A (p.Arg164His)	SELENOF (R164H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159505	NM_004261.5(SELENOF):c.490C>T (p.Arg164Cys)	SELENOF (R164C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159504	NM_004261.5(SELENOF):c.489A>T (p.Glu163Asp)	SELENOF (E163D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159503	NM_004261.5(SELENOF):c.390A>G (p.Val130=)	SELENOF (I114V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3159502	NM_004261.5(SELENOF):c.337C>T (p.Pro113Ser)	SELENOF (P113S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317223	NM_004261.5(SELENOF):c.335A>G (p.Lys112Arg)	SELENOF (K112R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159499	NM_004261.5(SELENOF):c.185A>G (p.Asn62Ser)	SELENOF (N62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159498	NM_004261.5(SELENOF):c.176G>T (p.Gly59Val)	SELENOF (G59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159497	NM_004261.5(SELENOF):c.131T>C (p.Leu44Ser)	SELENOF (L44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317224	NM_004261.5(SELENOF):c.68C>A (p.Ala23Glu)	SELENOF (A23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317225	NM_004261.5(SELENOF):c.40C>T (p.Pro14Ser)	SELENOF (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159501	NM_004261.5(SELENOF):c.25A>G (p.Ser9Gly)	SELENOF (S9G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317222	NM_004261.5(SELENOF):c.22C>T (p.Pro8Ser)	SELENOF (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159500	NM_004261.5(SELENOF):c.22C>G (p.Pro8Ala)	SELENOF (P8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
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 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
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 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 25