JMJD6[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2250757	NM_001081461.2(JMJD6):c.1232G>A (p.Arg411Gln)	JMJD6 (R369Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112348	NM_015167.3(JMJD6):c.1151G>A (p.Gly384Glu)	JMJD6 (G384E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112347	NM_015167.3(JMJD6):c.1102G>A (p.Asp368Asn)	JMJD6 (D368N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315625	NM_015167.3(JMJD6):c.1088C>G (p.Ser363Cys)	JMJD6 (S363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375132	NM_015167.3(JMJD6):c.1084G>A (p.Glu362Lys)	JMJD6 (E362K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112346	NM_015167.3(JMJD6):c.1076C>T (p.Ser359Leu)	JMJD6 (S359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112351	NM_015167.3(JMJD6):c.986C>G (p.Ser329Trp)	JMJD6 (S329W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112350	NM_015167.3(JMJD6):c.781C>A (p.Pro261Thr)	JMJD6 (P261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236892	NM_015167.3(JMJD6):c.725G>A (p.Arg242Gln)	JMJD6 (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338431	NM_015167.3(JMJD6):c.601C>A (p.Gln201Lys)	JMJD6 (Q201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112349	NM_015167.3(JMJD6):c.574G>A (p.Gly192Arg)	JMJD6 (G192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723445	NM_015167.3(JMJD6):c.477C>T (p.Asp159=)	JMJD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2485638	NM_015167.3(JMJD6):c.421C>T (p.Pro141Ser)	JMJD6 (P141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604778	NM_015167.3(JMJD6):c.331A>G (p.Lys111Glu)	JMJD6 (K111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318961	NM_015167.3(JMJD6):c.245A>G (p.Gln82Arg)	JMJD6 (Q82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298255	NM_015167.3(JMJD6):c.152C>T (p.Ala51Val)	JMJD6 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281303	NM_015167.3(JMJD6):c.101G>A (p.Ser34Asn)	JMJD6, METTL23 (S34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513279	NM_015167.3(JMJD6):c.44G>C (p.Ser15Thr)	JMJD6, METTL23 (S15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 32