ClinVar for Gene (Select 80000) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 383

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382612	NM_001142966.3(GREB1L):c.2621G>A (p.Trp874Ter)	GREB1L (W765* +2 more)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 3382569	NM_001142966.3(GREB1L):c.2183-2A>G	GREB1L	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal dominant 80 +1 more	GUncertain significance
Select item 3381367	NM_001142966.3(GREB1L):c.1363C>T (p.Leu455Phe)	GREB1L, LOC101927521 (L455F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380543	NM_001142966.3(GREB1L):c.1838C>G (p.Thr613Ser)	GREB1L (T504S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377262	NM_001142966.3(GREB1L):c.2360C>T (p.Thr787Met)	GREB1L (T678M +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3375031	NM_001142966.3(GREB1L):c.889C>G (p.Pro297Ala)	GREB1L, LOC101927521 (P297A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374902	NM_001142966.3(GREB1L):c.770C>T (p.Ser257Leu)	GREB1L, LOC101927521 (S257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3369414	NM_001142966.3(GREB1L):c.5128A>G (p.Arg1710Gly)	GREB1L (R1601G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368309	NM_001142966.3(GREB1L):c.1124C>T (p.Pro375Leu)	GREB1L, LOC101927521 (P375L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367757	NM_001142966.3(GREB1L):c.3553_3555delinsCAG (p.Glu1185Gln)	GREB1L (E1076Q +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3357991	NM_001142966.3(GREB1L):c.4710C>T (p.Pro1570=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3355827	NM_001142966.3(GREB1L):c.5122T>C (p.Phe1708Leu)	GREB1L (F1599L +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3351907	NM_001142966.3(GREB1L):c.4969G>A (p.Ala1657Thr)	GREB1L (A1548T +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3350981	NM_001142966.3(GREB1L):c.1220T>C (p.Leu407Ser)	GREB1L, LOC101927521 (L407S +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3350566	NM_001142966.3(GREB1L):c.16G>A (p.Ala6Thr)	GREB1L, LOC101927521 (A6T)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3350507	NM_001142966.3(GREB1L):c.2019G>A (p.Pro673=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3346506	NM_001142966.3(GREB1L):c.503C>T (p.Pro168Leu)	LOC101927521, GREB1L (P168L)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3346350	NM_001142966.3(GREB1L):c.5073T>A (p.His1691Gln)	GREB1L (H1582Q +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3345959	NM_001142966.3(GREB1L):c.5071C>T (p.His1691Tyr)	GREB1L (H1582Y +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3344103	NM_001142966.3(GREB1L):c.3488dup (p.Leu1163fs)	GREB1L (L1054fs +2 more)	Duplication (frameshift variant)	GREB1L-related disorder	GLikely pathogenic
Select item 3258108	NM_001142966.3(GREB1L):c.1394G>A (p.Gly465Asp)	GREB1L, LOC101927521 (G508D +1 more)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3257326	NM_001142966.3(GREB1L):c.2715C>G (p.Val905=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256661	NM_001142966.3(GREB1L):c.3907del (p.Asp1303fs)	GREB1L (D1194fs +2 more)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 3254994	NM_001142966.3(GREB1L):c.1708G>A (p.Val570Met)	GREB1L, LOC101927521 (V570M +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 80	GUncertain significance
Select item 3239616	NM_001142966.3(GREB1L):c.3925C>T (p.Arg1309Ter)	GREB1L (R1200* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3239073	NM_001142966.3(GREB1L):c.390A>G (p.Val130=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3238846	NM_001142966.3(GREB1L):c.3849_3850del (p.Tyr1284fs)	GREB1L (Y1175fs +2 more)	Microsatellite (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 3238805	NM_001142966.3(GREB1L):c.3944G>A (p.Arg1315Gln)	GREB1L (R1206Q +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3236252	NM_001142966.3(GREB1L):c.2125A>G (p.Ile709Val)	GREB1L (I600V +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3236038	NM_001142966.3(GREB1L):c.1984+5T>C	GREB1L	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3234277	NM_001142966.3(GREB1L):c.297C>T (p.Asn99=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068600	NM_001142966.3(GREB1L):c.683C>T (p.Ser228Phe)	GREB1L, LOC101927521 (S228F)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 80	GUncertain significance
Select item 3066333	NM_001142966.3(GREB1L):c.1147_1153del (p.Thr383fs)	GREB1L, LOC101927521 (T383fs +1 more)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 3063561	GRCh37/hg19 18q11.1(chr18:18540833-18833060)x3	GREB1L, ROCK1	Copy number gain	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3061207	NM_001142966.3(GREB1L):c.1171C>G (p.Leu391Val)	GREB1L, LOC101927521 (L391V +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3061184	NM_001142966.3(GREB1L):c.1907_1910dup (p.Pro638fs)	GREB1L (P529fs +2 more)	Duplication (frameshift variant)	GREB1L-related disorder	GPathogenic
Select item 3060010	NM_001142966.3(GREB1L):c.1662T>C (p.Tyr554=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant +1 more)	GREB1L-related disorder	GLikely benign
Select item 3050973	NM_001142966.3(GREB1L):c.3146+5A>T	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3049898	NM_001142966.3(GREB1L):c.1278C>G (p.Cys426Trp)	GREB1L, LOC101927521 (C426W +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GLikely benign
Select item 3049352	NM_001142966.3(GREB1L):c.1850-6T>C	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3049121	NM_001142966.3(GREB1L):c.4735+6G>A	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3048535	NM_001142966.3(GREB1L):c.2182+4A>G	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3046423	NM_001142966.3(GREB1L):c.2173C>A (p.Arg725=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3043484	NM_001142966.3(GREB1L):c.1208-9T>C	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3042873	NM_001142966.3(GREB1L):c.-7G>A	GREB1L, LOC101927521	Single nucleotide variant (5 prime UTR variant)	GREB1L-related disorder	GBenign
Select item 3041016	NM_001142966.3(GREB1L):c.2690+9T>C	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3036501	NM_001142966.3(GREB1L):c.2383T>C (p.Ser795Pro)	GREB1L (S686P +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GLikely benign
Select item 3036231	NM_001142966.3(GREB1L):c.2571C>T (p.Cys857=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3031352	NM_001142966.3(GREB1L):c.5472+7del	GREB1L	Deletion (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3030696	NM_001142966.3(GREB1L):c.3840G>A (p.Glu1280=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3030691	NM_001142966.3(GREB1L):c.3219G>C (p.Val1073=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3030149	NM_001142966.3(GREB1L):c.783C>T (p.Thr261=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3023498	NM_001142966.3(GREB1L):c.4391C>A (p.Ala1464Asp)	GREB1L (A1355D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3023415	NM_001142966.3(GREB1L):c.94G>A (p.Val32Ile)	GREB1L, LOC101927521 (V32I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3022019	NM_001142966.3(GREB1L):c.950-13dup	GREB1L, LOC101927521	Duplication (intron variant)	not provided	GBenign
Select item 3020615	NM_001142966.3(GREB1L):c.4735+14dup	GREB1L	Duplication (intron variant)	not provided	GBenign
Select item 3020254	NM_001142966.3(GREB1L):c.5272-14G>A	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020094	NM_001142966.3(GREB1L):c.4369-13T>C	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014170	NM_001142966.3(GREB1L):c.3969+5G>A	GREB1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3003373	NM_001142966.3(GREB1L):c.5212A>G (p.Met1738Val)	GREB1L (M1629V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997392	NM_001142966.3(GREB1L):c.3033T>C (p.Ser1011=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993088	NM_001142966.3(GREB1L):c.5633A>G (p.Gln1878Arg)	GREB1L (Q1878R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992852	NM_001142966.3(GREB1L):c.2691-11T>G	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989729	NM_001142966.3(GREB1L):c.5472+18G>T	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986460	NM_001142966.3(GREB1L):c.3777C>T (p.His1259=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985687	NM_001142966.3(GREB1L):c.4228+15C>T	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981552	NM_001142966.3(GREB1L):c.3336G>C (p.Leu1112=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980322	NM_001142966.3(GREB1L):c.3088G>A (p.Gly1030Ser)	GREB1L (G1030S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975135	NM_001142966.3(GREB1L):c.5662G>A (p.Val1888Ile)	GREB1L (V1779I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971969	NM_001142966.3(GREB1L):c.74C>T (p.Ser25Phe)	GREB1L, LOC101927521 (S25F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971701	NM_001142966.3(GREB1L):c.158-16T>C	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970379	NM_001142966.3(GREB1L):c.1071G>A (p.Glu357=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968466	NM_001142966.3(GREB1L):c.1549G>A (p.Val517Ile)	GREB1L, LOC101927521 (V517I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961558	NM_001142966.3(GREB1L):c.5473-11G>A	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961039	NM_001142966.3(GREB1L):c.4840A>G (p.Ile1614Val)	GREB1L (I1657V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958971	NM_001142966.3(GREB1L):c.2556+16G>T	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958817	NM_001142966.3(GREB1L):c.2746T>G (p.Ser916Ala)	GREB1L (S916A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958652	NM_001142966.3(GREB1L):c.3969+18G>A	GREB1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2911179	NM_001142966.3(GREB1L):c.5130-7A>C	GREB1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2903997	NM_001142966.3(GREB1L):c.3868T>C (p.Leu1290=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900733	NM_001142966.3(GREB1L):c.3954G>A (p.Leu1318=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900588	NM_001142966.3(GREB1L):c.4494C>T (p.His1498=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898835	NM_001142966.3(GREB1L):c.455A>G (p.Asn152Ser)	GREB1L, LOC101927521 (N152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898591	NM_001142966.3(GREB1L):c.3342C>T (p.Ile1114=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898457	NM_001142966.3(GREB1L):c.1683G>A (p.Ser561=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898112	NM_001142966.3(GREB1L):c.3020C>T (p.Ala1007Val)	GREB1L (A1050V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896949	NM_001142966.3(GREB1L):c.1370C>T (p.Thr457Met)	GREB1L, LOC101927521 (T457M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2894587	NM_001142966.3(GREB1L):c.4369-9C>G	GREB1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890841	NM_001142966.3(GREB1L):c.1068G>A (p.Thr356=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2887163	NM_001142966.3(GREB1L):c.962T>A (p.Ile321Asn)	GREB1L, LOC101927521 (I364N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883457	NM_001142966.3(GREB1L):c.1191A>G (p.Arg397=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879847	NM_001142966.3(GREB1L):c.2855G>A (p.Ser952Asn)	GREB1L (S843N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867166	NM_001142966.3(GREB1L):c.4030C>A (p.Leu1344Ile)	GREB1L (L1235I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865254	NM_001142966.3(GREB1L):c.5397del (p.Lys1799fs)	GREB1L (K1842fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2860640	NM_001142966.3(GREB1L):c.4887T>G (p.Val1629=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855964	NM_001142966.3(GREB1L):c.4943T>G (p.Leu1648Trp)	GREB1L (L1648W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840242	NM_001142966.3(GREB1L):c.1593G>A (p.Leu531=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2838701	NM_001142966.3(GREB1L):c.4587C>G (p.His1529Gln)	GREB1L (H1420Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819540	NM_001142966.3(GREB1L):c.1103C>G (p.Pro368Arg)	GREB1L, LOC101927521 (P368R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 4