Related gene-specific medical variations for Gene (Select 5992) - ClinVar

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

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 3042661	NM_213594.3(RFX4):c.44-4_44-3dup	LOC100287944, RFX4	Duplication (intron variant)	RFX4-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1801063	NM_213594.3(RFX4):c.199del (p.Glu67fs)	LOC100287944, RFX4 (E67fs +1 more)	Deletion (frameshift 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 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 776746	NM_213594.3(RFX4):c.1245G>A (p.Lys415=)	LOC100287944, RFX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 719284	NM_213594.3(RFX4):c.44-7448A>G	LOC100287944, RFX4	Single nucleotide variant (intron variant)	not provided	GBenign
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 92042	NM_213594.3(RFX4):c.175C>T (p.Pro59Ser)	LOC100287944, RFX4 (P59S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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: 49