RFX4[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3313933	NM_213594.3(RFX4):c.44-7484G>A	LOC100287944, LOC124819389 +1 more (D13N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246086	NM_213594.3(RFX4):c.44-7477C>T	LOC100287944, LOC124819389 +1 more (T15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713419	NM_213594.3(RFX4):c.44-7466C>G	LOC100287944, RFX4 (R19G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 719284	NM_213594.3(RFX4):c.44-7448A>G	LOC100287944, RFX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042661	NM_213594.3(RFX4):c.44-4_44-3dup	LOC100287944, RFX4	Duplication (intron variant)	RFX4-related disorder	GLikely benign
Select item 2229809	NM_213594.3(RFX4):c.85C>A (p.Arg29Ser)	LOC100287944, RFX4 (R38S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153482	NM_213594.3(RFX4):c.155C>T (p.Ala52Val)	LOC100287944, RFX4 (A61V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270888	NM_213594.3(RFX4):c.163C>T (p.Pro55Ser)	LOC100287944, RFX4 (P55S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 92042	NM_213594.3(RFX4):c.175C>T (p.Pro59Ser)	LOC100287944, RFX4 (P59S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801063	NM_213594.3(RFX4):c.199del (p.Glu67fs)	LOC100287944, RFX4 (E67fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2570844	NM_213594.3(RFX4):c.235C>T (p.Arg79Cys)	LOC100287944, RFX4 (R79C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306253	NM_213594.3(RFX4):c.244C>T (p.Leu82Phe)	LOC100287944, RFX4 (L82F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444655	NM_213594.3(RFX4):c.254A>G (p.His85Arg)	LOC100287944, RFX4 (H85R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311531	NM_213594.3(RFX4):c.364C>T (p.Arg122Ter)	RFX4, LOC100287944 +1 more (R122* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2309930	NM_213594.3(RFX4):c.467C>T (p.Thr156Met)	LOC100287944, RFX4 (T62M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2612508	NM_213594.3(RFX4):c.494C>T (p.Thr165Ile)	LOC100287944, RFX4 (T165I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349505	NM_213594.3(RFX4):c.511C>T (p.Arg171Trp)	LOC100287944, RFX4 (R180W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465560	NM_213594.3(RFX4):c.659A>C (p.Asn220Thr)	LOC100287944, RFX4 (N220T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153484	NM_213594.3(RFX4):c.760G>A (p.Val254Met)	LOC100287944, RFX4 (V160M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153485	NM_213594.3(RFX4):c.787A>G (p.Ile263Val)	LOC100287944, RFX4 (I272V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314686	NM_213594.3(RFX4):c.793G>A (p.Gly265Arg)	LOC100287944, RFX4 (G274R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343924	NM_213594.3(RFX4):c.964C>T (p.Arg322Trp)	LOC100287944, LOC126861625 +1 more (R228W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153479	NM_213594.3(RFX4):c.1028C>T (p.Thr343Met)	LOC100287944, RFX4 (T352M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313938	NM_213594.3(RFX4):c.1093A>G (p.Thr365Ala)	LOC100287944, RFX4 (T374A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323107	NM_213594.3(RFX4):c.1109G>A (p.Arg370His)	LOC100287944, RFX4 (R276H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313939	NM_213594.3(RFX4):c.1149G>C (p.Glu383Asp)	LOC100287944, RFX4 (E289D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153480	NM_213594.3(RFX4):c.1183G>A (p.Glu395Lys)	LOC100287944, RFX4 (E395K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313934	NM_213594.3(RFX4):c.1185G>T (p.Glu395Asp)	LOC100287944, RFX4 (E395D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265952	NM_213594.3(RFX4):c.1229T>C (p.Val410Ala)	LOC100287944, RFX4 (V410A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776746	NM_213594.3(RFX4):c.1245G>A (p.Lys415=)	LOC100287944, RFX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2617883	NM_213594.3(RFX4):c.1390G>A (p.Val464Met)	LOC100287944, RFX4 (V464M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358778	NM_213594.3(RFX4):c.1427G>A (p.Arg476Gln)	LOC100287944, RFX4 (R382Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238666	NM_213594.3(RFX4):c.1433A>G (p.Asn478Ser)	LOC100287944, RFX4 (N384S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404626	NM_213594.3(RFX4):c.1445G>A (p.Arg482Gln)	LOC100287944, RFX4 (R491Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313936	NM_213594.3(RFX4):c.1453A>G (p.Lys485Glu)	LOC100287944, RFX4 (K494E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032937	NM_213594.3(RFX4):c.1481G>A (p.Arg494Gln)	LOC100287944, RFX4 (R400Q +2 more)	Single nucleotide variant (missense variant)	RFX4-related disorder	GLikely benign
Select item 3313937	NM_213594.3(RFX4):c.1625G>A (p.Ser542Asn)	LOC100287944, RFX4 (S542N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347844	NM_213594.3(RFX4):c.1636G>A (p.Ala546Thr)	LOC100287944, RFX4 (A546T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153481	NM_213594.3(RFX4):c.1652C>T (p.Thr551Met)	LOC100287944, RFX4 (T457M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225348	NM_213594.3(RFX4):c.1715T>C (p.Leu572Pro)	LOC100287944, RFX4 (L478P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316048	NM_213594.3(RFX4):c.1802C>T (p.Thr601Met)	LOC100287944, RFX4 (T507M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153483	NM_213594.3(RFX4):c.1826A>G (p.Tyr609Cys)	LOC100287944, RFX4 (Y618C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394535	NM_213594.3(RFX4):c.1865C>T (p.Pro622Leu)	LOC100287944, RFX4 (P528L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724359	NM_213594.3(RFX4):c.1893T>C (p.Ser631=)	LOC100287944, RFX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507527	NM_213594.3(RFX4):c.2020C>T (p.Arg674Cys)	LOC100287944, RFX4 (R580C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385912	NM_213594.3(RFX4):c.2039C>T (p.Ser680Leu)	LOC100287944, RFX4 (S689L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776747	NM_213594.3(RFX4):c.2092T>G (p.Ser698Ala)	LOC100287944, RFX4 (S707A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2249879	NM_213594.3(RFX4):c.2123G>A (p.Arg708His)	LOC100287944, RFX4 (R614H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605391	NM_213594.3(RFX4):c.2135A>T (p.Glu712Val)	LOC100287944, RFX4 (E721V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578697	GRCh37/hg19 12q23.3(chr12:106460580-107090224)x1	CKAP4, NUAK1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815552	GRCh37/hg19 12q23.3(chr12:106510497-107070575)x3	RFX4, POLR3B +3 more	Copy number gain	not provided	GUncertain significance
Select item 686650	GRCh37/hg19 12q23.3(chr12:107119589-107216128)x3	RFX4, RIC8B	Copy number gain	not provided	GUncertain significance
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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 62