ClinVar for Gene (Select 7275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358778	NM_177972.3(TUB):c.566-3dup	RIC3, TUB	Duplication (intron variant)	TUB-related disorder	GLikely benign
Select item 3358761	NM_177972.3(TUB):c.168C>T (p.Pro56=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3358408	NM_177972.3(TUB):c.652C>G (p.Arg218Gly)	RIC3, TUB (R218G +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3358392	NM_177972.3(TUB):c.*4C>T	RIC3, TUB	Single nucleotide variant (3 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 3358262	NM_177972.3(TUB):c.597T>C (p.Asp199=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3357993	NM_177972.3(TUB):c.*8T>C	RIC3, TUB	Single nucleotide variant (3 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 3357892	NM_003320.5(TUB):c.120A>G (p.Lys40=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3357626	NM_177972.3(TUB):c.1110G>C (p.Val370=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3357444	NM_177972.3(TUB):c.537G>A (p.Gln179=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3357061	NM_177972.3(TUB):c.23A>C (p.Asp8Ala)	TUB (D8A)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance
Select item 3355762	NM_177972.3(TUB):c.852C>T (p.Tyr284=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3355750	NM_177972.3(TUB):c.1156_1158delinsGGT (p.Ser386Gly)	RIC3, TUB (S386G +1 more)	Indel (missense variant)	TUB-related disorder	GUncertain significance
Select item 3355612	NM_177972.3(TUB):c.*10C>T	RIC3, TUB	Single nucleotide variant (3 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 3355167	NM_177972.3(TUB):c.38+10C>T	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3354824	NM_177972.3(TUB):c.1387+3G>A	RIC3, TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3354737	NM_177972.3(TUB):c.1518G>A (p.Glu506=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3354711	NM_177972.3(TUB):c.1086C>T (p.Thr362=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3354563	NM_177972.3(TUB):c.885G>A (p.Lys295=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GUncertain significance
Select item 3354201	NM_003320.5(TUB):c.33G>T (p.Trp11Cys)	TUB (W11C)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3354098	NM_177972.3(TUB):c.1203C>A (p.Ile401=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3353977	NM_177972.3(TUB):c.610G>A (p.Glu204Lys)	RIC3, TUB (E204K +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3353971	NM_177972.3(TUB):c.1488G>A (p.Leu496=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3353944	NM_177972.3(TUB):c.254-7T>C	RIC3, TUB	Single nucleotide variant (non-coding transcript variant +1 more)	TUB-related disorder	GLikely benign
Select item 3353776	NM_177972.3(TUB):c.1206C>A (p.Arg402=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3353695	NM_177972.3(TUB):c.891C>T (p.Phe297=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3353675	NM_177972.3(TUB):c.96C>T (p.Ala32=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3353652	NM_177972.3(TUB):c.1387C>T (p.Pro463Ser)	RIC3, TUB (P463S +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3353561	NM_177972.3(TUB):c.254-4G>A	RIC3, TUB	Single nucleotide variant (non-coding transcript variant +1 more)	TUB-related disorder	GLikely benign
Select item 3353294	NM_177972.3(TUB):c.22G>T (p.Asp8Tyr)	TUB (D8Y)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance
Select item 3352837	NM_177972.3(TUB):c.2T>G (p.Met1Arg)	TUB (M1R)	Single nucleotide variant (missense variant +2 more)	TUB-related disorder	GUncertain significance
Select item 3352820	NM_177972.3(TUB):c.188A>C (p.Gln63Pro)	TUB (Q118P +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3352501	NM_177972.3(TUB):c.72G>A (p.Gln24=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3351737	NM_177972.3(TUB):c.38+4C>A	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3351526	NM_177972.3(TUB):c.1157G>A (p.Ser386Asn)	RIC3, TUB (S386N +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3351004	NM_177972.3(TUB):c.345A>C (p.Thr115=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	TUB-related disorder	GLikely benign
Select item 3350674	NM_177972.3(TUB):c.565+3G>A	RIC3, TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3350630	NM_177972.3(TUB):c.629C>T (p.Ser210Phe)	RIC3, TUB (S210F +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3350560	NM_177972.3(TUB):c.253+5A>G	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GUncertain significance
Select item 3349687	NM_177972.3(TUB):c.1073_1088del (p.Leu358fs)	RIC3, TUB (L358fs +1 more)	Deletion (frameshift variant)	TUB-related disorder	GUncertain significance
Select item 3349503	NM_177972.3(TUB):c.189G>A (p.Gln63=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3349318	NM_003320.5(TUB):c.8C>G (p.Ala3Gly)	TUB (A3G)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3349306	NM_177972.3(TUB):c.1141G>A (p.Gly381Arg)	RIC3, TUB (G381R +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3349228	NM_003320.5(TUB):c.-4C>T	TUB	Single nucleotide variant (5 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 3348040	NM_177972.3(TUB):c.688-3T>C	RIC3, TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3347529	NM_177972.3(TUB):c.979A>G (p.Ser327Gly)	RIC3, TUB (S327G +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3346401	NM_177972.3(TUB):c.1233A>G (p.Leu411=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3346095	NM_177972.3(TUB):c.166C>T (p.Pro56Ser)	TUB (P111S +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3345723	NM_177972.3(TUB):c.1211G>C (p.Arg404Pro)	RIC3, TUB (R404P +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3345207	NM_177972.3(TUB):c.985A>G (p.Ile329Val)	RIC3, TUB (I329V +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3344746	NM_177972.3(TUB):c.1512G>T (p.Ala504=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3330182	NM_177972.3(TUB):c.785G>T (p.Gly262Val)	RIC3, TUB (G262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330181	NM_177972.3(TUB):c.1420G>A (p.Ala474Thr)	RIC3, TUB (A529T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184703	NM_177972.3(TUB):c.428A>T (p.Asp143Val)	RIC3, TUB (D198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184701	NM_177972.3(TUB):c.908A>G (p.Lys303Arg)	RIC3, TUB (K303R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061653	NM_003320.5(TUB):c.-1G>A	TUB	Single nucleotide variant (5 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 3061519	NM_177972.3(TUB):c.504G>A (p.Thr168=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3060522	NM_177972.3(TUB):c.38+6C>T	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3057768	NM_177972.3(TUB):c.1377T>C (p.His459=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3040862	NM_177972.3(TUB):c.-5G>A	TUB	Single nucleotide variant (5 prime UTR variant +1 more)	TUB-related disorder	GLikely benign
Select item 3034922	NM_003320.5(TUB):c.87C>T (p.Pro29=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 3032768	NM_177972.3(TUB):c.484G>A (p.Ala162Thr)	RIC3, TUB (A162T +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3031363	NM_003320.5(TUB):c.7G>A (p.Ala3Thr)	TUB (A3T)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3029458	NM_003320.5(TUB):c.156-9C>T	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3029428	NM_177972.3(TUB):c.1310A>G (p.Gln437Arg)	RIC3, TUB (Q437R +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3006379	NM_177972.3(TUB):c.1116+12G>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004917	NM_177972.3(TUB):c.869G>T (p.Arg290Leu)	RIC3, TUB (R290L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998825	NM_177972.3(TUB):c.39-17C>G	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989129	NM_177972.3(TUB):c.397+14C>G	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986566	NM_177972.3(TUB):c.263C>T (p.Ala88Val)	TUB, RIC3 (A143V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984204	NM_177972.3(TUB):c.566-20T>C	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983572	NM_177972.3(TUB):c.1092T>G (p.Arg364=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981244	NM_177972.3(TUB):c.333G>A (p.Lys111=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976448	NC_000011.10:g.8039634T>C	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974332	NM_003320.5(TUB):c.203+14del	TUB	Deletion (intron variant)	not provided	GBenign
Select item 2973822	NM_177972.3(TUB):c.369T>C (p.Ala123=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966111	NM_177972.3(TUB):c.1062A>C (p.Ser354=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965381	NM_177972.3(TUB):c.999-16del	RIC3, TUB	Deletion (intron variant)	not provided	GLikely benign
Select item 2964693	NM_177972.3(TUB):c.885+17C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957140	NM_177972.3(TUB):c.414A>G (p.Ala138=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880169	NM_177972.3(TUB):c.471C>T (p.Gly157=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868073	NC_000011.10:g.8038978A>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842556	NC_000011.10:g.8039002C>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798525	NM_177972.3(TUB):c.273C>T (p.Leu91=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794843	NM_177972.3(TUB):c.885+20G>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785174	NM_177972.3(TUB):c.504G>T (p.Thr168=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771832	NM_177972.3(TUB):c.39-20A>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760107	NM_177972.3(TUB):c.997C>A (p.Arg333=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2754308	NM_177972.3(TUB):c.886-5C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709422	NM_177972.3(TUB):c.1129T>C (p.Leu377=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705818	NM_177972.3(TUB):c.1425G>A (p.Glu475=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700878	NM_177972.3(TUB):c.1387+1del	RIC3, TUB	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2684636	GRCh37/hg19 11p15.4(chr11:7922549-8155364)x3	EIF3F, NLRP10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2662714	NM_177972.3(TUB):c.1519T>G (p.Ter507Glu)	RIC3, TUB	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2636155	NM_177972.3(TUB):c.361G>A (p.Gly121Ser)	RIC3, TUB (G121S +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance
Select item 2634561	NM_177972.3(TUB):c.92G>A (p.Arg31Gln)	TUB (R31Q +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 2634487	NM_177972.3(TUB):c.568A>G (p.Ile190Val)	RIC3, TUB (I190V +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 2634136	NM_177972.3(TUB):c.176G>A (p.Arg59Gln)	TUB (R114Q +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 2633493	NM_177972.3(TUB):c.71A>G (p.Gln24Arg)	TUB (Q24R +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 2629326	NM_177972.3(TUB):c.492C>A (p.Asp164Glu)	RIC3, TUB (D164E +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 2629307	NM_177972.3(TUB):c.19T>G (p.Ser7Ala)	TUB (S7A)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance

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