Related gene-specific medical variations for Gene (Select 51780) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361483	NM_016604.4(KDM3B):c.448G>A (p.Asp150Asn)	KDM3B (D150N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361160	NM_016604.4(KDM3B):c.3397T>C (p.Ser1133Pro)	KDM3B (S1133P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360681	NM_016604.4(KDM3B):c.4364C>A (p.Ser1455Tyr)	KDM3B (S1455Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360658	NM_016604.4(KDM3B):c.4024T>A (p.Ser1342Thr)	KDM3B (S1342T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339073	NM_016604.4(KDM3B):c.25G>A (p.Val9Met)	KDM3B, LOC129994737 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336171	NM_016604.4(KDM3B):c.94_102dup (p.Ala34_Ser35insAlaAlaAla)	KDM3B, LOC129994737	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3257473	NM_016604.4(KDM3B):c.30C>G (p.Gly10=)	KDM3B, LOC129994737	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236600	NM_016604.4(KDM3B):c.2252C>T (p.Thr751Ile)	KDM3B (T751I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3113775	NM_016604.4(KDM3B):c.97G>C (p.Ala33Pro)	KDM3B, LOC129994737 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068120	NM_016604.4(KDM3B):c.3009G>A (p.Met1003Ile)	KDM3B (M1003I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3065060	NM_016604.4(KDM3B):c.4861G>C (p.Asp1621His)	KDM3B (D1621H)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3055328	NM_016604.4(KDM3B):c.13G>A (p.Ala5Thr)	KDM3B, LOC129994737 (A5T)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GBenign
Select item 2845962	NM_016604.4(KDM3B):c.136G>T (p.Ala46Ser)	KDM3B, LOC129994737 (A46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663849	NM_016604.4(KDM3B):c.1881del (p.Lys627fs)	KDM3B (K627fs)	Deletion (frameshift variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 2663542	NM_016604.4(KDM3B):c.141G>T (p.Trp47Cys)	KDM3B, LOC129994737 (W47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2509645	NM_016604.4(KDM3B):c.127C>T (p.Arg43Cys)	KDM3B, LOC129994737 (R43C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2429967	NM_016604.4(KDM3B):c.3047-1G>A	KDM3B	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2407379	NM_016604.4(KDM3B):c.72CTCGGC[3] (p.Ala28_Pro29insSerAla)	KDM3B, LOC129994737	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2394527	NM_016604.4(KDM3B):c.104G>A (p.Ser35Asn)	KDM3B, LOC129994737 (S35N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351648	NM_016604.4(KDM3B):c.69_74del (p.23SA[2])	KDM3B, LOC129994737	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2330047	NM_016604.4(KDM3B):c.106G>A (p.Gly36Arg)	KDM3B, LOC129994737 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255080	NM_016604.4(KDM3B):c.62C>G (p.Ala21Gly)	KDM3B, LOC129994737 (A21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238357	NM_016604.4(KDM3B):c.32A>G (p.Lys11Arg)	KDM3B, LOC129994737 (K11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203773	NM_016604.4(KDM3B):c.5070+1G>A	KDM3B	Single nucleotide variant (splice donor variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 1804810	NM_016604.4(KDM3B):c.92C>T (p.Ala31Val)	KDM3B, LOC129994737 (A31V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1700100	NM_016604.4(KDM3B):c.3046C>T (p.Gln1016Ter)	KDM3B (Q1016*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GPathogenic
Select item 1676521	NM_016604.4(KDM3B):c.2125G>C (p.Ala709Pro)	KDM3B (A709P)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676500	NM_016604.4(KDM3B):c.734G>T (p.Arg245Ile)	KDM3B (R245I)	Single nucleotide variant	not provided	GUncertain significance
Select item 1184390	NM_016604.4(KDM3B):c.950G>T (p.Gly317Val)	KDM3B (G317V)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 864853	NM_016604.4(KDM3B):c.133C>T (p.Arg45Ter)	KDM3B, LOC129994737 (R45*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 30