ClinVar for Gene (Select 165) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058433	NM_001129.5(AEBP1):c.3192C>A (p.Thr1064=)	AEBP1	Single nucleotide variant (synonymous variant)	AEBP1-related condition	GLikely benign
Select item 3035144	NM_001129.5(AEBP1):c.2570-6G>T	AEBP1	Single nucleotide variant (intron variant)	AEBP1-related condition	GLikely benign
Select item 3031479	NM_001129.5(AEBP1):c.2109G>C (p.Pro703=)	AEBP1	Single nucleotide variant (synonymous variant)	AEBP1-related condition	GLikely benign
Select item 3022440	NM_001129.5(AEBP1):c.2350C>T (p.Leu784=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021608	NM_001129.5(AEBP1):c.2570-20_2570-17del	AEBP1	Deletion (intron variant)	not provided	GLikely benign
Select item 3020767	NM_001129.5(AEBP1):c.1630+2T>A	AEBP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3012684	NM_001129.5(AEBP1):c.2322T>C (p.Asp774=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012488	NM_001129.5(AEBP1):c.1018+18C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011057	NM_001129.5(AEBP1):c.3107G>A (p.Arg1036Gln)	AEBP1 (R1036Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007853	NM_001129.5(AEBP1):c.1486-8C>T	AEBP1, MIR4649	Single nucleotide variant (non-coding transcript variant +1 more)	AEBP1-related condition +1 more	GLikely benign
Select item 3005701	NM_001129.5(AEBP1):c.2037+19C>G	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004054	NM_001129.5(AEBP1):c.1018+1G>A	AEBP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3002731	NM_001129.5(AEBP1):c.2709+16C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000884	NM_001129.5(AEBP1):c.906T>C (p.Tyr302=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999677	NM_001129.5(AEBP1):c.595+10G>C	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998047	NM_001129.5(AEBP1):c.254-3C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997907	NM_001129.5(AEBP1):c.849G>A (p.Pro283=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996828	NM_001129.5(AEBP1):c.996_999del (p.Asp333fs)	AEBP1 (D333fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2995920	NM_001129.5(AEBP1):c.2466A>C (p.Ala822=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994861	NM_001129.5(AEBP1):c.2223C>G (p.Ser741=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994172	NM_001129.5(AEBP1):c.862+20A>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993717	NM_001129.5(AEBP1):c.1717-1G>C	AEBP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2990780	NM_001129.5(AEBP1):c.1400+18T>G	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990586	NM_001129.5(AEBP1):c.2868C>T (p.His956=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989930	NM_001129.5(AEBP1):c.3268G>A (p.Val1090Met)	AEBP1 (V1090M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989163	NM_001129.5(AEBP1):c.2787C>T (p.Gly929=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988235	NM_001129.5(AEBP1):c.667+18G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987918	NM_001129.5(AEBP1):c.254-13G>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985836	NM_001129.5(AEBP1):c.3117C>T (p.Asn1039=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982494	NM_001129.5(AEBP1):c.863-12C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980191	NM_001129.5(AEBP1):c.891G>A (p.Pro297=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980120	NM_001129.5(AEBP1):c.254-5G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979391	NM_001129.5(AEBP1):c.1261-13G>C	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978420	NM_001129.5(AEBP1):c.3072A>G (p.Gln1024=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970341	NM_001129.5(AEBP1):c.863-16C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969565	NM_001129.5(AEBP1):c.54C>T (p.Ala18=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967956	NM_001129.5(AEBP1):c.999C>T (p.Asp333=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967191	NM_001129.5(AEBP1):c.740-5C>G	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966034	NM_001129.5(AEBP1):c.1630+14G>C	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965848	NM_001129.5(AEBP1):c.2096T>C (p.Phe699Ser)	AEBP1 (F699S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965277	NM_001129.5(AEBP1):c.1018+16G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963071	NM_001129.5(AEBP1):c.863-11C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962560	NM_001129.5(AEBP1):c.1631-14C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962059	NM_001129.5(AEBP1):c.862+13G>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962058	NM_001129.5(AEBP1):c.862+13del	AEBP1	Deletion (intron variant)	not provided	GBenign
Select item 2961720	NM_001129.5(AEBP1):c.1857C>G (p.Arg619=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957452	NM_001129.5(AEBP1):c.2809+12G>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957050	NM_001129.5(AEBP1):c.2038-5C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957049	NM_001129.5(AEBP1):c.1920G>A (p.Gln640=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956219	NM_001129.5(AEBP1):c.1279G>A (p.Asp427Asn)	AEBP1 (D427N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956094	NM_001129.5(AEBP1):c.894G>A (p.Leu298=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954949	NM_001129.5(AEBP1):c.1260+12G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954838	NM_001129.5(AEBP1):c.1400+11A>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918428	NM_001129.5(AEBP1):c.585C>T (p.Pro195=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917174	NM_001129.5(AEBP1):c.1263C>T (p.Thr421=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912199	NM_001129.5(AEBP1):c.672G>A (p.Pro224=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909637	NM_001129.5(AEBP1):c.1404C>T (p.Asp468=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907635	NM_001129.5(AEBP1):c.1779C>T (p.Ser593=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907492	NM_001129.5(AEBP1):c.1161C>T (p.Pro387=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906775	NM_001129.5(AEBP1):c.561C>G (p.Pro187=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905708	NM_001129.5(AEBP1):c.2319C>T (p.Tyr773=)	AEBP1	Single nucleotide variant (synonymous variant)	AEBP1-related condition +1 more	GLikely benign
Select item 2904301	NM_001129.5(AEBP1):c.3369C>T (p.Pro1123=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904053	NM_001129.5(AEBP1):c.3045G>A (p.Gln1015=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903725	NM_001129.5(AEBP1):c.2520C>T (p.Thr840=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900587	NM_001129.5(AEBP1):c.3393G>A (p.Glu1131=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900461	NM_001129.5(AEBP1):c.1830G>A (p.Glu610=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898452	NM_001129.5(AEBP1):c.2862A>C (p.Thr954=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888401	NM_001129.5(AEBP1):c.863-10G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885444	NM_001129.5(AEBP1):c.298G>A (p.Asp100Asn)	AEBP1 (D100N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885235	NM_001129.5(AEBP1):c.684C>T (p.Thr228=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881728	NM_001129.5(AEBP1):c.2352G>C (p.Leu784=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881528	NM_001129.5(AEBP1):c.381C>A (p.Ala127=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879509	NM_001129.5(AEBP1):c.72C>T (p.Arg24=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879237	NM_001129.5(AEBP1):c.2592G>C (p.Leu864=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876950	NM_001129.5(AEBP1):c.1083C>A (p.Gly361=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876434	NM_001129.5(AEBP1):c.1150+17A>C	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874834	NM_001129.5(AEBP1):c.1047C>T (p.Pro349=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874081	NM_001129.5(AEBP1):c.3402G>A (p.Glu1134=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858664	NM_001129.5(AEBP1):c.1284C>A (p.Tyr428Ter)	AEBP1 (Y428*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2858357	NM_001129.5(AEBP1):c.579G>A (p.Glu193=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856867	NM_001129.5(AEBP1):c.48G>A (p.Leu16=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855616	NM_001129.5(AEBP1):c.1485+15C>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847329	NM_001129.5(AEBP1):c.1335G>A (p.Glu445=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2839594	NM_001129.5(AEBP1):c.3156G>T (p.Thr1052=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830589	NM_001129.5(AEBP1):c.1104A>G (p.Arg368=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812535	NM_001129.5(AEBP1):c.1840+8T>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812481	NM_001129.5(AEBP1):c.2667G>A (p.Glu889=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807170	NM_001129.5(AEBP1):c.2926A>G (p.Thr976Ala)	AEBP1 (T976A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806903	NM_001129.5(AEBP1):c.309C>T (p.Pro103=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801325	NM_001129.5(AEBP1):c.668-6C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799220	NM_001129.5(AEBP1):c.15C>T (p.Arg5=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798656	NM_001129.5(AEBP1):c.243G>C (p.Thr81=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795712	NM_001129.5(AEBP1):c.1452A>G (p.Thr484=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795016	NM_001129.5(AEBP1):c.2383dup (p.Glu795fs)	AEBP1 (E795fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2794113	NM_001129.5(AEBP1):c.1631-11C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793380	NM_001129.5(AEBP1):c.3180C>A (p.Thr1060=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790754	NM_001129.5(AEBP1):c.595+15C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788545	NM_001129.5(AEBP1):c.87G>C (p.Leu29=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784345	NM_001129.5(AEBP1):c.1065G>A (p.Lys355=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782708	NM_001129.5(AEBP1):c.2688G>A (p.Ala896=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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