SELENOK[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 3159520	NM_021237.5(SELENOK):c.265G>T (p.Ala89Ser)	SELENOK (A89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159519	NM_021237.5(SELENOK):c.220A>T (p.Met74Leu)	SELENOK (M74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317228	NM_021237.5(SELENOK):c.215G>A (p.Arg72Gln)	SELENOK (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317231	NM_021237.5(SELENOK):c.202G>A (p.Gly68Arg)	SELENOK (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317227	NM_021237.5(SELENOK):c.101T>C (p.Val34Ala)	SELENOK (V34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159522	NM_021237.5(SELENOK):c.41G>A (p.Ser14Asn)	SELENOK (S14N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159521	NM_021237.5(SELENOK):c.38G>A (p.Arg13Gln)	SELENOK (R13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317226	NM_021237.5(SELENOK):c.26T>C (p.Val9Ala)	SELENOK (V9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569938	NM_021237.5(SELENOK):c.10A>G (p.Ile4Val)	SELENOK (I4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062734	GRCh37/hg19 3p21.1(chr3:53532755-54395791)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062724	GRCh37/hg19 3p21.1-14.3(chr3:53659716-54500525)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 686776	GRCh37/hg19 3p21.1(chr3:53413246-53955646)x3	ACTR8, CACNA1D +3 more	Copy number gain	not provided	GUncertain significance
Select item 562769	GRCh37/hg19 3p21.1(chr3:53892719-54182466)x3	SELENOK, IL17RB +2 more	Copy number gain	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 20