ClinVar for MedGen (Select 120532) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 4662

<< First< Prev

Page of 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023983	NM_004260.4(RECQL4):c.2452C>T (p.Leu818=)	RECQL4	Single nucleotide variant (synonymous variant +2 more)	Baller-Gerold syndrome	GLikely benign
Select item 3023098	NM_004260.4(RECQL4):c.218C>T (p.Pro73Leu)	RECQL4 (P30L +1 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3022895	NM_004260.4(RECQL4):c.1704+3G>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GUncertain significance
Select item 3022805	NM_004260.4(RECQL4):c.104C>G (p.Pro35Arg)	LOC130001411, RECQL4 (P35R)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3022084	NM_004260.4(RECQL4):c.1238C>A (p.Ala413Glu)	RECQL4 (A381E +4 more)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3021868	NM_004260.4(RECQL4):c.610G>A (p.Ala204Thr)	RECQL4 (A161T +1 more)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3021385	NM_004260.4(RECQL4):c.2055C>T (p.Asp685=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 3020770	NM_004260.4(RECQL4):c.2216_2217del (p.Thr739fs)	RECQL4 (T622fs +11 more)	Deletion (frameshift variant +1 more)	Baller-Gerold syndrome	GPathogenic
Select item 3019650	NM_004260.4(RECQL4):c.433A>G (p.Thr145Ala)	RECQL4 (T102A +1 more)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3019458	NM_004260.4(RECQL4):c.3350G>A (p.Gly1117Glu)	RECQL4 (G1000E +16 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3017506	NM_004260.4(RECQL4):c.1391-10G>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3017487	NM_004260.4(RECQL4):c.1483+9G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3017348	NM_004260.4(RECQL4):c.200C>T (p.Ala67Val)	RECQL4 (A67V)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3016210	NM_004260.4(RECQL4):c.2650C>G (p.Gln884Glu)	RECQL4 (Q527E +13 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3016200	NM_004260.4(RECQL4):c.2878_2885+14del	RECQL4	Deletion (splice donor variant)	Baller-Gerold syndrome	GLikely pathogenic
Select item 3016077	NM_004260.4(RECQL4):c.2695G>A (p.Gly899Ser)	RECQL4 (G476S +13 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3015578	NM_004260.4(RECQL4):c.1621-15C>G	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3014411	NM_004260.4(RECQL4):c.737_738delinsTT (p.Ser246Ile)	RECQL4 (S246I +2 more)	Indel (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3014231	NM_004260.4(RECQL4):c.213+4C>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GUncertain significance
Select item 3014181	NM_004260.4(RECQL4):c.3289A>T (p.Ser1097Cys)	RECQL4 (S1053C +16 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3013582	NM_004260.4(RECQL4):c.597A>G (p.Pro199=)	RECQL4	Single nucleotide variant (5 prime UTR variant +3 more)	Baller-Gerold syndrome	GLikely benign
Select item 3013285	NM_004260.4(RECQL4):c.1739C>T (p.Thr580Ile)	RECQL4 (T463I +8 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3011962	NM_004260.4(RECQL4):c.3086A>G (p.Glu1029Gly)	RECQL4 (E1029G +16 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3011713	NM_004260.4(RECQL4):c.1563G>A (p.Arg521=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 3010807	NM_004260.4(RECQL4):c.1573delinsCCCCC (p.Cys525fs)	RECQL4 (C168fs +8 more)	Indel (frameshift variant +1 more)	Baller-Gerold syndrome	GPathogenic
Select item 3010601	NM_004260.4(RECQL4):c.1542C>A (p.Leu514=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 3010553	NM_004260.4(RECQL4):c.1620+19G>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3010200	NM_004260.4(RECQL4):c.2201-10_2201-7delinsA	RECQL4	Indel (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3009152	NM_004260.4(RECQL4):c.2756-18G>A	RECQL4 (S581N +2 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 3007715	NM_004260.4(RECQL4):c.3508C>G (p.Pro1170Ala)	RECQL4 (P1127A +17 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3007035	NM_004260.4(RECQL4):c.3201G>C (p.Leu1067=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 3006871	NM_004260.4(RECQL4):c.2924del (p.Pro975fs)	RECQL4 (P596fs +16 more)	Deletion (frameshift variant +1 more)	Baller-Gerold syndrome	GPathogenic
Select item 3006195	NM_004260.4(RECQL4):c.2934A>C (p.Pro978=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 3006039	NM_004260.4(RECQL4):c.118+13C>T	RECQL4, LOC130001411	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3006036	NM_004260.4(RECQL4):c.3236G>C (p.Ser1079Thr)	RECQL4 (S1035T +16 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3005687	NM_004260.4(RECQL4):c.2632C>A (p.Pro878Thr)	RECQL4 (P780T +13 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3005408	NM_004260.4(RECQL4):c.2342C>G (p.Pro781Arg)	RECQL4 (P380R +11 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3004973	NM_004260.4(RECQL4):c.1878+18T>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3004953	NM_004260.4(RECQL4):c.354+6G>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GUncertain significance
Select item 3004158	NM_004260.4(RECQL4):c.79A>G (p.Ser27Gly)	LOC130001411, RECQL4 (S27G)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3002787	NM_004260.4(RECQL4):c.2895T>G (p.Pro965=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3002496	NM_004260.4(RECQL4):c.573A>G (p.Leu191=)	RECQL4	Single nucleotide variant (synonymous variant +3 more)	Baller-Gerold syndrome	GLikely benign
Select item 3002078	NM_004260.4(RECQL4):c.1704+12A>G	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3002049	NM_004260.4(RECQL4):c.650C>T (p.Ser217Leu)	RECQL4 (S174L +1 more)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3001834	NM_004260.4(RECQL4):c.2681G>A (p.Arg894Lys)	RECQL4 (R884K +13 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3001249	NM_004260.4(RECQL4):c.3502+19C>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 3001241	NM_004260.4(RECQL4):c.85-17A>G	LOC130001411, RECQL4	Single nucleotide variant (intron variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 3000843	NM_004260.4(RECQL4):c.450C>T (p.Ser150=)	RECQL4	Single nucleotide variant (synonymous variant +3 more)	Baller-Gerold syndrome	GLikely benign
Select item 2997439	NM_004260.4(RECQL4):c.1618C>T (p.Gln540Ter)	RECQL4 (Q540* +8 more)	Single nucleotide variant (nonsense +1 more)	Baller-Gerold syndrome	GPathogenic
Select item 2995918	NM_004260.4(RECQL4):c.3130A>G (p.Thr1044Ala)	RECQL4 (T1001A +16 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2995917	NM_004260.4(RECQL4):c.3132del (p.Ala1045fs)	RECQL4 (A1045fs +16 more)	Deletion (frameshift variant +1 more)	Baller-Gerold syndrome	GPathogenic
Select item 2994692	NM_004260.4(RECQL4):c.480A>T (p.Pro160=)	RECQL4	Single nucleotide variant (synonymous variant +3 more)	Baller-Gerold syndrome	GLikely benign
Select item 2994237	NM_004260.4(RECQL4):c.2598G>A (p.Gly866=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2994180	NM_004260.4(RECQL4):c.1131+14G>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2993153	NM_004260.4(RECQL4):c.915A>G (p.Ala305=)	RECQL4	Single nucleotide variant (synonymous variant +2 more)	Baller-Gerold syndrome	GLikely benign
Select item 2992292	NM_004260.4(RECQL4):c.287G>A (p.Arg96Gln)	RECQL4 (R53Q +1 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2991933	NM_004260.4(RECQL4):c.1851C>T (p.Phe617=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 2990407	NM_004260.4(RECQL4):c.3270G>A (p.Glu1090=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 2989083	NM_004260.4(RECQL4):c.1620+20G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2989073	NM_004260.4(RECQL4):c.4G>C (p.Glu2Gln)	LOC130001411, RECQL4 (E2Q)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2988427	NM_004260.4(RECQL4):c.3369G>A (p.Gln1123=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 2987781	NM_004260.4(RECQL4):c.2061A>G (p.Ala687=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 2987394	NM_004260.4(RECQL4):c.355-16G>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2987315	NM_004260.4(RECQL4):c.2045G>A (p.Arg682Lys)	RECQL4 (R193K +11 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2986807	NM_004260.4(RECQL4):c.1132-11G>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GUncertain significance
Select item 2986791	NM_004260.4(RECQL4):c.2755+19G>A	RECQL4 (S546N +2 more)	Single nucleotide variant (intron variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2986560	NM_004260.4(RECQL4):c.2886-13T>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2986420	NM_004260.4(RECQL4):c.3259C>T (p.Pro1087Ser)	RECQL4 (P1021S +16 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2986250	NM_004260.4(RECQL4):c.3056-17G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2984831	NM_004260.4(RECQL4):c.214-7C>G	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2984830	NM_004260.4(RECQL4):c.2464-9G>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2984782	NM_004260.4(RECQL4):c.655C>G (p.Leu219Val)	RECQL4 (L219V +1 more)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2984354	NM_004260.4(RECQL4):c.2464G>A (p.Gly822Ser)	RECQL4 (G399S +13 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2984050	NM_004260.4(RECQL4):c.2201G>A (p.Gly734Asp)	RECQL4 (G367D +11 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2983946	NM_004260.4(RECQL4):c.2849C>T (p.Pro950Leu)	RECQL4 (P461L +16 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2983057	NM_004260.4(RECQL4):c.3384G>A (p.Gly1128=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 2982143	NM_004260.4(RECQL4):c.1344C>T (p.Pro448=)	RECQL4	Single nucleotide variant (synonymous variant +2 more)	Baller-Gerold syndrome	GLikely benign
Select item 2982124	NM_004260.4(RECQL4):c.2201-10T>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2980434	NM_004260.4(RECQL4):c.2756-34_2756-8del	RECQL4	Deletion (intron variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2979705	NM_004260.4(RECQL4):c.1861_1862insG (p.Tyr621Ter)	RECQL4 (Y254* +11 more)	Insertion (nonsense +1 more)	Baller-Gerold syndrome	GPathogenic
Select item 2979697	NM_004260.4(RECQL4):c.671A>C (p.Glu224Ala)	RECQL4 (E224A +1 more)	Single nucleotide variant (missense variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2979476	NM_004260.4(RECQL4):c.1484-20C>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2978760	NM_004260.4(RECQL4):c.712G>C (p.Glu238Gln)	RECQL4 (E195Q +2 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2978075	NM_004260.4(RECQL4):c.784C>G (p.Arg262Gly)	RECQL4 (R262G +2 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2977975	NM_004260.4(RECQL4):c.3394-15T>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2977382	NM_004260.4(RECQL4):c.241C>A (p.His81Asn)	RECQL4 (H81N +1 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2976809	NM_004260.4(RECQL4):c.637G>A (p.Gly213Ser)	RECQL4 (G170S +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2975954	NM_004260.4(RECQL4):c.1289C>T (p.Pro430Leu)	RECQL4 (P51L +5 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2974206	NM_004260.4(RECQL4):c.792del (p.Arg263_Trp264insTer)	RECQL4	Deletion (5 prime UTR variant +2 more)	Baller-Gerold syndrome	GPathogenic
Select item 2973538	NM_004260.4(RECQL4):c.2078A>G (p.Gln693Arg)	RECQL4 (Q204R +11 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2972626	NM_004260.4(RECQL4):c.2701G>A (p.Glu901Lys)	RECQL4 (E500K +13 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2971159	NM_004260.4(RECQL4):c.2787G>A (p.Leu929=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 2970476	NM_004260.4(RECQL4):c.3355_3372del (p.Met1119_Gly1124del)	RECQL4	Deletion (inframe_deletion +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2969056	NM_004260.4(RECQL4):c.3051G>A (p.Arg1017=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 2968136	NM_004260.4(RECQL4):c.2569T>G (p.Cys857Gly)	RECQL4 (C368G +13 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2966861	NM_004260.4(RECQL4):c.812G>A (p.Ser271Asn)	RECQL4 (S271N +2 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2965173	NM_004260.4(RECQL4):c.1921A>G (p.Thr641Ala)	RECQL4 (T524A +11 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2965147	NM_004260.4(RECQL4):c.1724A>G (p.His575Arg)	RECQL4 (H218R +8 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2964979	NM_004260.4(RECQL4):c.2059-10T>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GLikely benign
Select item 2964761	NM_004260.4(RECQL4):c.1602G>A (p.Leu534=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign

<< First< Prev

Page of 47