ClinVar for Gene (Select 80196) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314902	NM_025126.4(RNF34):c.613A>G (p.Arg205Gly)	KDM2B, RNF34 (R13G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3314901	NM_025126.4(RNF34):c.103G>A (p.Ala35Thr)	KDM2B, RNF34 (A35T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314900	NM_025126.4(RNF34):c.752T>A (p.Val251Glu)	KDM2B, RNF34 (V251E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314899	NM_025126.4(RNF34):c.301A>G (p.Thr101Ala)	KDM2B, RNF34 (T101A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314898	NM_025126.4(RNF34):c.1001A>G (p.Asp334Gly)	KDM2B, RNF34 (D335G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314896	NM_025126.4(RNF34):c.262G>A (p.Val88Ile)	KDM2B, RNF34 (V89I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ANAPC5, B3GNT4 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CDK2AP1, DIABLO +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3155414	NM_025126.4(RNF34):c.934G>A (p.Glu312Lys)	KDM2B, RNF34 (E312K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155413	NM_025126.4(RNF34):c.829G>T (p.Ala277Ser)	KDM2B, RNF34 (A277S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155412	NM_025126.4(RNF34):c.687T>G (p.Asp229Glu)	KDM2B, RNF34 (D230E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155411	NM_025126.4(RNF34):c.533C>T (p.Ser178Leu)	KDM2B, RNF34 (S178L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155409	NM_025126.4(RNF34):c.22A>G (p.Met8Val)	KDM2B, RNF34 (M9V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155408	NM_025126.4(RNF34):c.160G>A (p.Ala54Thr)	KDM2B, RNF34 (A54T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2610423	NM_025126.4(RNF34):c.429G>T (p.Leu143Phe)	KDM2B, RNF34 (L143F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595100	NM_025126.4(RNF34):c.833G>A (p.Arg278Gln)	KDM2B, RNF34 (R279Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2515801	NM_025126.4(RNF34):c.184T>G (p.Cys62Gly)	KDM2B, RNF34 (C62G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476983	NM_025126.4(RNF34):c.893G>A (p.Arg298Gln)	KDM2B, RNF34 (R298Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387622	NM_025126.4(RNF34):c.412C>T (p.Arg138Cys)	KDM2B, RNF34 (R138C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377433	NM_025126.4(RNF34):c.705A>T (p.Glu235Asp)	KDM2B, RNF34 (E236D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2310229	NM_025126.4(RNF34):c.289C>T (p.Arg97Cys)	KDM2B, RNF34 (R98C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267604	NM_025126.4(RNF34):c.446G>A (p.Cys149Tyr)	KDM2B, RNF34 (C149Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264515	NM_025126.4(RNF34):c.693T>G (p.Asp231Glu)	KDM2B, RNF34 (D231E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2209947	NM_025126.4(RNF34):c.616T>C (p.Ser206Pro)	KDM2B, RNF34 (S14P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 778448	NM_025126.4(RNF34):c.530G>A (p.Arg177His)	KDM2B, RNF34 (R178H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394621	GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3	ANAPC5, C12orf43 +8 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42