"GeneDx"[submitter] AND "JMJD1C"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1169948	NM_032776.3(JMJD1C):c.6789C>T (p.Asp2263=)	JMJD1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 804311	NM_032776.3(JMJD1C):c.5863-6T>G	JMJD1C	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 804350	NM_032776.3(JMJD1C):c.3167_3207del (p.Ser1056fs)	JMJD1C (S1018fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 460220	NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser)	JMJD1C (T516S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1169950	NM_032776.3(JMJD1C):c.1390T>A (p.Ser464Thr)	JMJD1C (S176T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 804313	NM_032776.3(JMJD1C):c.1100T>C (p.Leu367Pro)	JMJD1C (L148P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 804312	NM_032776.3(JMJD1C):c.1082_1098del (p.Lys361fs)	JMJD1C (K142fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 804314	NM_032776.3(JMJD1C):c.326del (p.Pro109fs)	JMJD1C (P109fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1170745	NM_032776.3(JMJD1C):c.168+11C>G	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy +1 more	GBenign
Select item 1164927	NM_032776.3(JMJD1C):c.168+10T>C	JMJD1C, JMJD1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early myoclonic encephalopathy +1 more	GBenign