RFX7[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 159

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 2635628	NM_022841.7(RFX7):c.4359T>G (p.His1453Gln)	RFX7 (H1356Q +1 more)	Single nucleotide variant (missense variant +1 more)	RFX7-related disorder	GUncertain significance
Select item 2632599	NM_022841.7(RFX7):c.4268T>G (p.Leu1423Ter)	RFX7 (L1326* +1 more)	Single nucleotide variant (nonsense +1 more)	RFX7-related disorder	GUncertain significance
Select item 3153516	NM_022841.7(RFX7):c.4184A>G (p.Asn1395Ser)	RFX7 (N1298S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3313951	NM_022841.7(RFX7):c.4181T>C (p.Ile1394Thr)	RFX7 (I1297T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3153515	NM_022841.7(RFX7):c.4151T>C (p.Ile1384Thr)	RFX7 (I1384T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1810457	NM_022841.7(RFX7):c.4089G>C (p.Gln1363His)	RFX7 (Q1363H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248942	NM_022841.7(RFX7):c.4067G>C (p.Gly1356Ala)	RFX7 (G1356A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247388	NM_022841.7(RFX7):c.4067G>T (p.Gly1356Val)	RFX7 (G1356V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460769	NM_022841.7(RFX7):c.4040A>G (p.Asn1347Ser)	RFX7 (N1250S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2610598	NM_022841.7(RFX7):c.4016T>C (p.Ile1339Thr)	RFX7 (I1339T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614167	NM_022841.7(RFX7):c.3974A>C (p.Gln1325Pro)	RFX7 (Q1228P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153514	NM_022841.7(RFX7):c.3971G>A (p.Gly1324Asp)	RFX7 (G1227D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1306578	NM_022841.7(RFX7):c.3941del (p.Pro1314fs)	RFX7 (P1217fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3313948	NM_022841.7(RFX7):c.3901A>G (p.Met1301Val)	RFX7 (M1301V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580458	NM_022841.7(RFX7):c.3851C>T (p.Thr1284Ile)	RFX7 (T1187I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613879	NM_022841.7(RFX7):c.3788A>G (p.Asp1263Gly)	RFX7 (D1166G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065672	NM_022841.7(RFX7):c.3781_3783del (p.Asn1261del)	RFX7 (N1164del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	GUncertain significance
Select item 3153513	NM_022841.7(RFX7):c.3752A>G (p.Asn1251Ser)	RFX7 (N1251S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460262	NM_022841.7(RFX7):c.3751A>G (p.Asn1251Asp)	RFX7 (N1251D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299315	NM_022841.7(RFX7):c.3731C>T (p.Ala1244Val)	RFX7 (A1244V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252622	NM_022841.7(RFX7):c.3576_3577insTA (p.Val1193Ter)	RFX7 (V1096* +1 more)	Insertion (nonsense)	not provided	GUncertain significance
Select item 2252601	NM_022841.7(RFX7):c.3569G>A (p.Arg1190Gln)	RFX7 (R1190Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399552	NM_022841.7(RFX7):c.3494G>A (p.Arg1165Gln)	RFX7 (R1068Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2401737	NM_022841.7(RFX7):c.3493C>T (p.Arg1165Trp)	RFX7 (R1068W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 789075	NM_022841.7(RFX7):c.3412A>T (p.Asn1138Tyr)	RFX7 (N1041Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2328269	NM_022841.7(RFX7):c.3397A>G (p.Thr1133Ala)	RFX7 (T1133A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258938	NM_022841.7(RFX7):c.3379G>C (p.Val1127Leu)	RFX7 (V1030L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480393	NM_022841.7(RFX7):c.3359G>A (p.Arg1120His)	RFX7 (R1120H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1301302	NM_022841.7(RFX7):c.3349= (p.His1117=)	RFX7	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 2460225	NM_022841.7(RFX7):c.3277C>T (p.Arg1093Cys)	RFX7 (R1093C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153511	NM_022841.7(RFX7):c.3247C>T (p.Leu1083Phe)	RFX7 (L986F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258937	NM_022841.7(RFX7):c.3209G>C (p.Ser1070Thr)	RFX7 (S1070T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530335	NM_022841.7(RFX7):c.3155C>T (p.Pro1052Leu)	RFX7 (P1052L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313946	NM_022841.7(RFX7):c.3098T>C (p.Met1033Thr)	RFX7 (M1033T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537067	NM_022841.7(RFX7):c.3089G>T (p.Ser1030Ile)	RFX7 (S1030I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712559	NM_022841.7(RFX7):c.3083C>T (p.Pro1028Leu)	RFX7 (P1028L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1705979	NM_022841.7(RFX7):c.3082C>T (p.Pro1028Ser)	RFX7 (P1028S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3153510	NM_022841.7(RFX7):c.3068C>T (p.Pro1023Leu)	RFX7 (P1023L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499502	NM_022841.7(RFX7):c.3032del (p.Ser1011fs)	RFX7 (S1011fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	GPathogenic
Select item 2260141	NM_022841.7(RFX7):c.2948G>C (p.Arg983Thr)	RFX7 (R886T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554158	NM_022841.7(RFX7):c.2930G>A (p.Arg977Gln)	RFX7 (R977Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1309460	NM_022841.7(RFX7):c.2927C>G (p.Ser976Ter)	RFX7 (S879* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1309611	NM_022841.7(RFX7):c.2921G>A (p.Ser974Asn)	RFX7 (S877N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2631522	NM_022841.7(RFX7):c.2914T>A (p.Ser972Thr)	RFX7 (S875T +1 more)	Single nucleotide variant (missense variant)	RFX7-related disorder	GUncertain significance
Select item 2645371	NM_022841.7(RFX7):c.2892G>A (p.Pro964=)	RFX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982919	NM_022841.7(RFX7):c.2874AACCCC[4] (p.948PT[10])	RFX7	Microsatellite (inframe_insertion)	Neurodevelopmental disorder	GUncertain significance
Select item 3049875	NM_022841.7(RFX7):c.2841ACCCAC[5] (p.Thr965_Ser966insProThr)	RFX7	Microsatellite (inframe insertion)	RFX7-related disorder	GLikely benign
Select item 2645372	NM_022841.7(RFX7):c.2841ACCCAC[3] (p.948PT[8])	RFX7	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2350519	NM_022841.7(RFX7):c.2841ACCCAC[2] (p.948PT[7])	RFX7	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 1333082	NM_022841.7(RFX7):c.2784C>T (p.His928=)	RFX7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458732	NM_022841.7(RFX7):c.2773A>G (p.Met925Val)	RFX7 (M925V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813712	NM_022841.7(RFX7):c.2727_2730dup (p.Gly911fs)	RFX7 (G814fs +1 more)	Duplication (frameshift variant)	Microcephaly	GUncertain significance
Select item 2499503	NM_022841.7(RFX7):c.2718C>A (p.Tyr906Ter)	RFX7 (Y906* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	GPathogenic
Select item 2493427	NM_022841.7(RFX7):c.2712T>A (p.His904Gln)	RFX7 (H904Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252588	NM_022841.7(RFX7):c.2704A>G (p.Asn902Asp)	RFX7 (N805D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046313	NM_022841.7(RFX7):c.2700G>T (p.Met900Ile)	RFX7 (M803I +1 more)	Single nucleotide variant (missense variant)	RFX7-related disorder	GLikely benign
Select item 2315885	NM_022841.7(RFX7):c.2687A>C (p.Gln896Pro)	RFX7 (Q896P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429645	NM_022841.7(RFX7):c.2674G>A (p.Val892Met)	RFX7 (V795M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3153509	NM_022841.7(RFX7):c.2589G>C (p.Glu863Asp)	RFX7 (E863D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153508	NM_022841.7(RFX7):c.2586G>C (p.Lys862Asn)	RFX7 (K765N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645373	NM_022841.7(RFX7):c.2574A>G (p.Gln858=)	RFX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335178	NM_022841.7(RFX7):c.2480C>T (p.Pro827Leu)	RFX7 (P730L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313255	NM_022841.7(RFX7):c.2468T>G (p.Leu823Ter)	RFX7 (L726* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2507306	NM_022841.7(RFX7):c.2459_2462del (p.Val820fs)	RFX7 (V723fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2504748	NM_022841.7(RFX7):c.2410G>C (p.Val804Leu)	RFX7 (V707L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733764	NM_022841.7(RFX7):c.2394A>G (p.Gln798=)	RFX7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3153507	NM_022841.7(RFX7):c.2384G>T (p.Ser795Ile)	RFX7 (S698I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055100	NM_022841.7(RFX7):c.2352A>G (p.Gln784=)	RFX7	Single nucleotide variant (synonymous variant)	RFX7-related disorder	GLikely benign
Select item 2545968	NM_022841.7(RFX7):c.2293T>C (p.Phe765Leu)	RFX7 (F668L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153506	NM_022841.7(RFX7):c.2243C>G (p.Thr748Arg)	RFX7 (T748R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458588	NM_022841.7(RFX7):c.2233G>T (p.Glu745Ter)	RFX7 (E745* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2691374	NM_022841.7(RFX7):c.2176A>G (p.Ile726Val)	RFX7 (I629V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689867	NM_022841.7(RFX7):c.2147G>C (p.Ser716Thr)	RFX7 (S619T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	GUncertain significance
Select item 2578396	NM_022841.7(RFX7):c.2116_2117del (p.Glu706fs)	RFX7 (E609fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2390398	NM_022841.7(RFX7):c.2116G>A (p.Glu706Lys)	RFX7 (E609K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462070	NM_022841.7(RFX7):c.2113dup (p.Thr705fs)	RFX7 (T608fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3153505	NM_022841.7(RFX7):c.2111A>G (p.Lys704Arg)	RFX7 (K704R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295454	NM_022841.7(RFX7):c.2098C>T (p.Pro700Ser)	RFX7 (P603S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2620663	NM_022841.7(RFX7):c.2092A>G (p.Lys698Glu)	RFX7 (K601E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153504	NM_022841.7(RFX7):c.2071G>T (p.Gly691Cys)	RFX7 (G594C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313947	NM_022841.7(RFX7):c.2057A>G (p.Glu686Gly)	RFX7 (E589G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629767	NM_022841.7(RFX7):c.2052del (p.Thr684_Ile685insTer)	RFX7	Deletion (frameshift variant)	RFX7-related disorder	GLikely pathogenic
Select item 2548723	NM_022841.7(RFX7):c.2026A>G (p.Ile676Val)	RFX7 (I579V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3313950	NM_022841.7(RFX7):c.2000C>A (p.Thr667Asn)	RFX7 (T667N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336579	NM_022841.7(RFX7):c.1966C>T (p.Pro656Ser)	RFX7 (P656S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572732	NM_022841.7(RFX7):c.1960A>G (p.Lys654Glu)	RFX7 (K557E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294015	NM_022841.7(RFX7):c.1954T>A (p.Cys652Ser)	RFX7 (C555S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313949	NM_022841.7(RFX7):c.1867A>C (p.Thr623Pro)	RFX7 (T526P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645374	NM_022841.7(RFX7):c.1844C>T (p.Thr615Ile)	RFX7 (T518I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2296916	NM_022841.7(RFX7):c.1843A>G (p.Thr615Ala)	RFX7 (T518A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2286844	NM_022841.7(RFX7):c.1828C>G (p.Leu610Val)	RFX7 (L513V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469591	NM_022841.7(RFX7):c.1813C>T (p.Arg605Cys)	RFX7 (R508C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490610	NM_022841.7(RFX7):c.1805G>A (p.Cys602Tyr)	RFX7 (C505Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385600	NM_022841.7(RFX7):c.1721A>G (p.Asn574Ser)	RFX7 (N574S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462117	NM_022841.7(RFX7):c.1592G>A (p.Gly531Glu)	RFX7 (G531E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785489	NM_022841.7(RFX7):c.1592G>T (p.Gly531Val)	RFX7 (G531V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2493337	NM_022841.7(RFX7):c.1586C>T (p.Ala529Val)	RFX7 (A529V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2