"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KDM3B"[gen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2351648	NM_016604.4(KDM3B):c.69_74del (p.23SA[2])	KDM3B, LOC129994737	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2655714	NM_016604.4(KDM3B):c.675C>T (p.Ile225=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578983	NM_016604.4(KDM3B):c.943G>C (p.Asp315His)	KDM3B (D315H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299003	NM_016604.4(KDM3B):c.943G>A (p.Asp315Asn)	KDM3B (D315N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655715	NM_016604.4(KDM3B):c.1147A>C (p.Thr383Pro)	KDM3B (T383P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655716	NM_016604.4(KDM3B):c.1437A>G (p.Ser479=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related condition +1 more	GLikely benign
Select item 2673028	NM_016604.4(KDM3B):c.1494A>C (p.Thr498=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655717	NM_016604.4(KDM3B):c.1720G>A (p.Val574Ile)	KDM3B (V574I)	Single nucleotide variant (missense variant)	KDM3B-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2396264	NM_016604.4(KDM3B):c.1838G>A (p.Arg613His)	KDM3B (R613H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 715401	NM_016604.4(KDM3B):c.1848G>T (p.Glu616Asp)	KDM3B (E616D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1701485	NM_016604.4(KDM3B):c.2181G>A (p.Ser727=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655718	NM_016604.4(KDM3B):c.2340G>A (p.Pro780=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related condition +1 more	GBenign/Likely benign
Select item 784629	NM_016604.4(KDM3B):c.2430G>A (p.Ser810=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related condition +1 more	GBenign/Likely benign
Select item 2655719	NM_016604.4(KDM3B):c.2543A>G (p.Asn848Ser)	KDM3B (N848S)	Single nucleotide variant (missense variant)	KDM3B-related condition +1 more	GLikely benign
Select item 2498980	NM_016604.4(KDM3B):c.2564T>C (p.Leu855Pro)	KDM3B (L855P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655720	NM_016604.4(KDM3B):c.2937A>G (p.Ala979=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024885	NM_016604.4(KDM3B):c.3046+8A>T	KDM3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2655721	NM_016604.4(KDM3B):c.3452C>G (p.Pro1151Arg)	KDM3B (P1151R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2591690	NM_016604.4(KDM3B):c.3511A>G (p.Thr1171Ala)	KDM3B (T1171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1695140	NM_016604.4(KDM3B):c.3903G>A (p.Pro1301=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related condition +1 more	GLikely benign
Select item 2655722	NM_016604.4(KDM3B):c.3933A>G (p.Thr1311=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655723	NM_016604.4(KDM3B):c.4893+4C>T	KDM3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675993	NM_016604.4(KDM3B):c.5009G>C (p.Gly1670Ala)	KDM3B (G1670A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 24