ClinVar for Gene (Select 25942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318556	NM_001145358.2(SIN3A):c.382T>G (p.Ser128Ala)	SIN3A (S128A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318555	NM_001145358.2(SIN3A):c.3676A>G (p.Met1226Val)	SIN3A (M1226V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318554	NM_001145358.2(SIN3A):c.2700G>C (p.Gln900His)	SIN3A (Q900H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318553	NM_001145358.2(SIN3A):c.757-22T>G	SIN3A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3318552	NM_001145358.2(SIN3A):c.820T>C (p.Ser274Pro)	SIN3A (S274P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3258084	NM_001145358.2(SIN3A):c.1511T>A (p.Val504Asp)	SIN3A (V504D)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 3255061	NM_001145358.2(SIN3A):c.1017_1021del (p.Arg340fs)	SIN3A (R340fs)	Deletion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 3255060	NM_001145358.2(SIN3A):c.965dup (p.Asp323fs)	SIN3A (D323fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 3255058	NM_001145358.2(SIN3A):c.92A>G (p.His31Arg)	SIN3A (H31R)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 3253379	NM_001145358.2(SIN3A):c.1463T>C (p.Val488Ala)	SIN3A (V488A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253367	NM_001145358.2(SIN3A):c.1984G>A (p.Glu662Lys)	SIN3A (E662K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252251	NM_001145358.2(SIN3A):c.1283G>T (p.Arg428Leu)	SIN3A (R428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251396	NM_001145358.2(SIN3A):c.994T>C (p.Leu332=)	SIN3A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3243866	NC_000015.9:g.(?_75664320)_(75722716_?)dup	SIN3A	Duplication	not provided	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3239193	NM_001145358.2(SIN3A):c.1006C>T (p.Gln336Ter)	SIN3A (Q336*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3236064	NM_001145358.2(SIN3A):c.2552_2553insC (p.Val851_Lys852insTer)	SIN3A	Insertion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 3234768	NM_001145358.2(SIN3A):c.1855C>T (p.Leu619Phe)	SIN3A (L619F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234067	NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)	SIN3A (Q604*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 3162317	NM_001145358.2(SIN3A):c.812C>T (p.Pro271Leu)	SIN3A (P271L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3162316	NM_001145358.2(SIN3A):c.3639G>C (p.Trp1213Cys)	SIN3A (W1213C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162315	NM_001145358.2(SIN3A):c.3481A>T (p.Ser1161Cys)	SIN3A (S1161C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162314	NM_001145358.2(SIN3A):c.3481_3482delinsT (p.Ser1161fs)	SIN3A (S1161fs)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3162313	NM_001145358.2(SIN3A):c.3133C>T (p.Leu1045Phe)	SIN3A (L1045F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162312	NM_001145358.2(SIN3A):c.2937T>A (p.Tyr979Ter)	SIN3A (Y979*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3162311	NM_001145358.2(SIN3A):c.268G>A (p.Ala90Thr)	SIN3A (A90T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3162310	NM_001145358.2(SIN3A):c.1906A>T (p.Ile636Leu)	SIN3A (I636L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162309	NM_001145358.2(SIN3A):c.1249C>T (p.Pro417Ser)	SIN3A (P417S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067684	NM_001145358.2(SIN3A):c.3336G>A (p.Ser1112=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063890	NM_001145358.2(SIN3A):c.2900G>A (p.Arg967Gln)	SIN3A (R967Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063737	NM_001145358.2(SIN3A):c.2093+18C>T	SIN3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3061356	NM_001145358.2(SIN3A):c.2863dup (p.Val955fs)	SIN3A (V955fs)	Duplication (frameshift variant)	SIN3A-related disorder	GLikely pathogenic
Select item 3052416	NM_001145358.2(SIN3A):c.507C>G (p.Ser169=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 3046872	NM_001145358.2(SIN3A):c.3363G>A (p.Gln1121=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 3046429	NM_001145358.2(SIN3A):c.3423G>A (p.Glu1141=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 3043540	NM_001145358.2(SIN3A):c.3400C>A (p.Arg1134=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 3039478	NM_001145358.2(SIN3A):c.222T>C (p.His74=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 3030882	NM_001145358.2(SIN3A):c.95G>A (p.Arg32Gln)	SIN3A (R32Q)	Single nucleotide variant (missense variant)	SIN3A-related disorder	GUncertain significance
Select item 3026423	NM_001145358.2(SIN3A):c.1282C>T (p.Arg428Cys)	SIN3A (R428C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024264	NM_001145358.2(SIN3A):c.1526+1G>T	SIN3A	Single nucleotide variant (splice donor variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 3023778	NM_001145358.2(SIN3A):c.2764C>A (p.Arg922=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018589	NM_001145358.2(SIN3A):c.2851+9C>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018576	NM_001145358.2(SIN3A):c.1892G>A (p.Arg631Gln)	SIN3A (R631Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015786	NM_001145358.2(SIN3A):c.3303C>T (p.Tyr1101=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013169	NM_001145358.2(SIN3A):c.1989C>T (p.Val663=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013054	NM_001145358.2(SIN3A):c.1596T>G (p.Thr532=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011284	NM_001145358.2(SIN3A):c.3591+3G>A	SIN3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3010998	NM_001145358.2(SIN3A):c.2683T>C (p.Phe895Leu)	SIN3A (F895L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3010930	NM_001145358.2(SIN3A):c.3454A>G (p.Ser1152Gly)	SIN3A (S1152G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005237	NM_001145358.2(SIN3A):c.1162-19A>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000114	NM_001145358.2(SIN3A):c.3408T>C (p.Cys1136=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999251	NM_001145358.2(SIN3A):c.2757A>C (p.Glu919Asp)	SIN3A (E919D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998331	NM_001145358.2(SIN3A):c.2278-17T>C	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995849	NM_001145358.2(SIN3A):c.2829T>C (p.Ile943=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995061	NM_001145358.2(SIN3A):c.672C>T (p.Pro224=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991174	NM_001145358.2(SIN3A):c.3394C>T (p.Arg1132Trp)	SIN3A (R1132W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989462	NM_001145358.2(SIN3A):c.2176T>C (p.Leu726=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988739	NM_001145358.2(SIN3A):c.782C>T (p.Pro261Leu)	SIN3A (P261L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988624	NM_001145358.2(SIN3A):c.1324C>T (p.Pro442Ser)	SIN3A (P442S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986365	NM_001145358.2(SIN3A):c.3022-16C>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986335	NM_001145358.2(SIN3A):c.738A>T (p.Pro246=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983574	NM_001145358.2(SIN3A):c.3391C>A (p.Arg1131=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982210	NM_001145358.2(SIN3A):c.1161+12T>A	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981716	NM_001145358.2(SIN3A):c.783G>A (p.Pro261=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981384	NM_001145358.2(SIN3A):c.2067C>T (p.Ser689=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980277	NM_001145358.2(SIN3A):c.3592-12del	SIN3A	Deletion (intron variant)	not provided	GBenign
Select item 2977230	NM_001145358.2(SIN3A):c.757-9del	SIN3A	Deletion (intron variant)	not provided	GBenign
Select item 2974105	NM_001145358.2(SIN3A):c.3073C>G (p.Leu1025Val)	SIN3A (L1025V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972562	NM_001145358.2(SIN3A):c.1738-17TCT[2]	SIN3A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2971772	NM_001145358.2(SIN3A):c.2022T>C (p.Ala674=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971594	NM_001145358.2(SIN3A):c.1008+14A>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969665	NM_001145358.2(SIN3A):c.3592-21_3592-19inv	SIN3A	Inversion (intron variant)	not provided	GUncertain significance
Select item 2969549	NM_001145358.2(SIN3A):c.3384-18G>A	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967142	NM_001145358.2(SIN3A):c.381A>G (p.Leu127=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966544	NM_001145358.2(SIN3A):c.2094-11C>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962372	NM_001145358.2(SIN3A):c.543A>T (p.Gly181=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962021	NM_001145358.2(SIN3A):c.866C>T (p.Ser289Leu)	SIN3A (S289L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961414	NM_001145358.2(SIN3A):c.2277+7G>C	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961168	NM_001145358.2(SIN3A):c.2477C>G (p.Ala826Gly)	SIN3A (A826G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960008	NM_001145358.2(SIN3A):c.93C>T (p.His31=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959105	NM_001145358.2(SIN3A):c.2852-18A>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958000	NM_001145358.2(SIN3A):c.818C>T (p.Ala273Val)	SIN3A (A273V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957160	NM_001145358.2(SIN3A):c.3411A>G (p.Gln1137=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957039	NM_001145358.2(SIN3A):c.635C>T (p.Pro212Leu)	SIN3A (P212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956792	NM_001145358.2(SIN3A):c.3384-19C>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955890	NM_001145358.2(SIN3A):c.1527-19T>C	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955592	NM_001145358.2(SIN3A):c.2851+11A>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912398	NM_001145358.2(SIN3A):c.1317+3G>A	SIN3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2908366	NM_001145358.2(SIN3A):c.97G>C (p.Val33Leu)	SIN3A (V33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2904966	NM_001145358.2(SIN3A):c.2575G>A (p.Gly859Ser)	SIN3A (G859S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900796	NM_001145358.2(SIN3A):c.3794A>G (p.Lys1265Arg)	SIN3A (K1265R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896236	NM_001145358.2(SIN3A):c.3602G>A (p.Arg1201His)	SIN3A (R1201H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895222	NM_001145358.2(SIN3A):c.1242C>T (p.Asn414=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892709	NM_001145358.2(SIN3A):c.1431A>G (p.Ala477=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2891138	NM_001145358.2(SIN3A):c.1249_1250inv (p.Pro417Gly)	SIN3A (P417G)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2889473	NM_001145358.2(SIN3A):c.518A>G (p.Lys173Arg)	SIN3A (K173R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2889401	NM_001145358.2(SIN3A):c.3395G>A (p.Arg1132Gln)	SIN3A (R1132Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887903	NM_001145358.2(SIN3A):c.561C>T (p.Pro187=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2885633	NM_001145358.2(SIN3A):c.867G>A (p.Ser289=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883485	NM_001145358.2(SIN3A):c.2394G>T (p.Val798=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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