"GeneDx"[submitter] AND "JMJD8"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 145245	GRCh38/hg38 16p13.3(chr16:636673-722554)x1	ANTKMT, FBXL16 +26 more	Copy number loss	See cases	GBenign
Select item 145243	GRCh38/hg38 16p13.3(chr16:636673-722554)x3	LOC130058119, LOC130058120 +26 more	Copy number gain	See cases	GBenign
Select item 152593	GRCh38/hg38 16p13.3(chr16:650260-722554)x1	ANTKMT, FBXL16 +18 more	Copy number loss	See cases	GBenign
Select item 1222578	NM_005861.4(STUB1):c.525-68T>G	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1236838	NM_005861.4(STUB1):c.525-22C>T	STUB1, JMJD8	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1723795	NM_005861.4(STUB1):c.535G>A (p.Glu179Lys)	STUB1, JMJD8 (E107K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1301244	NM_005861.4(STUB1):c.544C>T (p.Arg182Ter)	JMJD8, STUB1 (R110* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 3365683	NM_005861.4(STUB1):c.565G>A (p.Asp189Asn)	JMJD8, STUB1 (D117N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3342376	NM_005861.4(STUB1):c.586C>T (p.Gln196Ter)	JMJD8, STUB1 (Q124* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1707113	NM_005861.4(STUB1):c.612+53G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1710839	NM_005861.4(STUB1):c.613-67G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2504526	NM_005861.4(STUB1):c.636C>G (p.Asp212Glu)	JMJD8, STUB1 (D140E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 436887	NM_005861.4(STUB1):c.646dup (p.Ser216fs)	JMJD8, STUB1 (S216fs +1 more)	Duplication (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 783725	NM_005861.4(STUB1):c.642T>C (p.Leu214=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 3343961	NM_005861.4(STUB1):c.722G>C (p.Arg241Pro)	JMJD8, STUB1 (R169P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3027432	NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)	JMJD8, STUB1 (P171L +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48 +1 more	GConflicting classifications of pathogenicity
Select item 1303591	NM_005861.4(STUB1):c.736A>C (p.Thr246Pro)	JMJD8, STUB1 (T174P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 127146	NM_005861.4(STUB1):c.737C>T (p.Thr246Met)	JMJD8, STUB1 (T246M +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48 +1 more	GConflicting classifications of pathogenicity
Select item 2579395	NM_005861.4(STUB1):c.752C>A (p.Thr251Asn)	JMJD8, STUB1 (T179N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1320727	NM_005861.4(STUB1):c.760C>T (p.Arg254Cys)	JMJD8, STUB1 (R182C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3340972	NM_005861.4(STUB1):c.772G>T (p.Glu258Ter)	JMJD8, STUB1 (E186* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1185469	NM_005861.4(STUB1):c.786+8del	JMJD8, STUB1	Deletion (intron variant +2 more)	Spinocerebellar ataxia 48 +2 more	GBenign
Select item 590271	NM_005861.4(STUB1):c.823_824del (p.Leu275fs)	JMJD8, STUB1 (L275fs +1 more)	Deletion (frameshift variant +2 more)	Spinocerebellar ataxia 48 +1 more	GPathogenic/Likely pathogenic
Select item 871160	NM_005861.4(STUB1):c.824del (p.Leu275fs)	JMJD8, STUB1 (L203fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1683911	NM_005861.4(STUB1):c.829C>T (p.Gln277Ter)	JMJD8, STUB1 (Q205* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 546030	NM_005861.4(STUB1):c.832G>T (p.Glu278Ter)	JMJD8, STUB1 (E278* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1806626	NM_005861.4(STUB1):c.848A>T (p.Asn283Ile)	STUB1, JMJD8 (N211I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1698117	NM_005861.4(STUB1):c.853G>A (p.Ala285Thr)	JMJD8, STUB1 (A213T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3253121	NM_005861.4(STUB1):c.888G>T (p.Glu296Asp)	JMJD8, STUB1 (E224D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1526327	NM_005861.4(STUB1):c.*94C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253809	GRCh37/hg19 16p13.3(chr16:239130-841725)x3	STUB1, CIAO3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 253755	GRCh37/hg19 16p13.3(chr16:450686-1007236)x3	MSLN, PRR35 +27 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic

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Items: 39