GREB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153652	GRCh38/hg38 2p25.1(chr2:11270488-11924312)x3	E2F6, GREB1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3102241	NM_014668.4(GREB1):c.16G>T (p.Ala6Ser)	GREB1 (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220090	NM_014668.4(GREB1):c.38G>A (p.Arg13His)	GREB1 (R13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524381	NM_014668.4(GREB1):c.80G>A (p.Arg27Gln)	GREB1 (R27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551407	NM_014668.4(GREB1):c.221G>A (p.Gly74Asp)	GREB1 (G74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282638	NM_014668.4(GREB1):c.371C>T (p.Ser124Phe)	GREB1 (S124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322143	NM_014668.4(GREB1):c.494T>A (p.Phe165Tyr)	GREB1 (F165Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791848	NM_014668.4(GREB1):c.638-8C>A	GREB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2486808	NM_014668.4(GREB1):c.704C>T (p.Thr235Met)	GREB1 (T235M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378544	NM_014668.4(GREB1):c.721G>A (p.Glu241Lys)	GREB1 (E241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282624	NM_014668.4(GREB1):c.734G>A (p.Gly245Glu)	GREB1 (G245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102277	NM_014668.4(GREB1):c.769G>A (p.Ala257Thr)	GREB1 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486405	NM_014668.4(GREB1):c.814C>T (p.Pro272Ser)	GREB1 (P272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733620	NM_014668.4(GREB1):c.829G>A (p.Gly277Ser)	GREB1 (G277S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780337	NM_014668.4(GREB1):c.843G>A (p.Pro281=)	GREB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3282640	NM_014668.4(GREB1):c.872T>G (p.Leu291Arg)	GREB1 (L291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601518	NM_014668.4(GREB1):c.890C>G (p.Pro297Arg)	GREB1 (P297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650680	NM_014668.4(GREB1):c.909G>A (p.Leu303=)	GREB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650681	NM_014668.4(GREB1):c.918C>T (p.Ser306=)	GREB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516833	NM_014668.4(GREB1):c.944G>A (p.Gly315Glu)	GREB1 (G315E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225824	NM_014668.4(GREB1):c.946T>C (p.Trp316Arg)	GREB1 (W316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102236	NM_014668.4(GREB1):c.1021G>T (p.Ala341Ser)	GREB1 (A341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102235	NM_014668.4(GREB1):c.1021G>A (p.Ala341Thr)	GREB1 (A341T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102237	NM_014668.4(GREB1):c.1040C>T (p.Pro347Leu)	GREB1 (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282643	NM_014668.4(GREB1):c.1045G>T (p.Val349Phe)	GREB1 (V349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556751	NM_014668.4(GREB1):c.1057G>A (p.Gly353Arg)	GREB1 (G353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473087	NM_014668.4(GREB1):c.1216C>G (p.Leu406Val)	GREB1 (L406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313802	NM_014668.4(GREB1):c.1217T>G (p.Leu406Arg)	GREB1 (L406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102238	NM_014668.4(GREB1):c.1226C>T (p.Thr409Met)	GREB1 (T409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386775	NM_014668.4(GREB1):c.1249G>A (p.Val417Ile)	GREB1 (V417I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298105	NM_014668.4(GREB1):c.1273G>A (p.Gly425Ser)	GREB1 (G425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282644	NM_014668.4(GREB1):c.1386C>G (p.Ile462Met)	GREB1 (I462M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216039	NM_014668.4(GREB1):c.1394G>A (p.Arg465His)	GREB1 (R465H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282637	NM_014668.4(GREB1):c.1396T>C (p.Ser466Pro)	GREB1 (S466P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356560	NM_014668.4(GREB1):c.1448C>T (p.Pro483Leu)	GREB1 (P483L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409472	NM_014668.4(GREB1):c.1454C>T (p.Pro485Leu)	GREB1 (P485L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354770	NM_014668.4(GREB1):c.1477G>A (p.Ala493Thr)	GREB1 (A493T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102239	NM_014668.4(GREB1):c.1525G>T (p.Ala509Ser)	GREB1 (A509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102240	NM_014668.4(GREB1):c.1540G>A (p.Asp514Asn)	GREB1 (D514N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282645	NM_014668.4(GREB1):c.1639G>A (p.Val547Met)	GREB1 (V547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282626	NM_014668.4(GREB1):c.1667C>T (p.Ala556Val)	GREB1 (A556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368451	NM_014668.4(GREB1):c.1678T>C (p.Ser560Pro)	GREB1 (S560P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725180	NM_014668.4(GREB1):c.1696+8C>G	GREB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2464135	NM_014668.4(GREB1):c.1727G>A (p.Ser576Asn)	GREB1 (S576N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102242	NM_014668.4(GREB1):c.1764T>A (p.Asn588Lys)	GREB1 (N588K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102243	NM_014668.4(GREB1):c.1832A>T (p.Asp611Val)	GREB1 (D611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102244	NM_014668.4(GREB1):c.1888T>C (p.Ser630Pro)	GREB1 (S630P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516771	NM_014668.4(GREB1):c.2051A>G (p.Gln684Arg)	GREB1 (Q684R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311720	NM_014668.4(GREB1):c.2071T>C (p.Phe691Leu)	GREB1 (F691L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368023	NM_014668.4(GREB1):c.2140G>A (p.Val714Met)	GREB1 (V714M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102245	NM_014668.4(GREB1):c.2160G>T (p.Leu720Phe)	GREB1 (L720F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728253	NM_014668.4(GREB1):c.2193G>A (p.Thr731=)	GREB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3102246	NM_014668.4(GREB1):c.2212T>C (p.Tyr738His)	GREB1 (Y738H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526724	NM_014668.4(GREB1):c.2231C>T (p.Thr744Met)	GREB1 (T744M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483197	NM_014668.4(GREB1):c.2267A>G (p.Asn756Ser)	GREB1 (N756S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102247	NM_014668.4(GREB1):c.2307T>A (p.His769Gln)	GREB1 (H769Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282631	NM_014668.4(GREB1):c.2437C>T (p.Leu813Phe)	GREB1 (L813F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323489	NM_014668.4(GREB1):c.2456C>T (p.Pro819Leu)	GREB1 (P819L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102249	NM_014668.4(GREB1):c.2573C>T (p.Ser858Leu)	GREB1 (S858L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102250	NM_014668.4(GREB1):c.2624A>T (p.Tyr875Phe)	GREB1 (Y875F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228844	NM_014668.4(GREB1):c.2687C>T (p.Ala896Val)	GREB1 (A896V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405527	NM_014668.4(GREB1):c.2723C>T (p.Ala908Val)	GREB1 (A908V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527613	NM_014668.4(GREB1):c.2753C>T (p.Pro918Leu)	GREB1 (P918L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282633	NM_014668.4(GREB1):c.2813C>T (p.Ser938Phe)	GREB1 (S938F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782939	NM_014668.4(GREB1):c.2832C>T (p.Cys944=)	GREB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102251	NM_014668.4(GREB1):c.2833G>A (p.Gly945Ser)	GREB1 (G945S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545524	NM_014668.4(GREB1):c.2870C>T (p.Ser957Leu)	GREB1 (S957L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259598	NM_014668.4(GREB1):c.3007A>G (p.Met1003Val)	GREB1 (M1003V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102252	NM_014668.4(GREB1):c.3169G>T (p.Val1057Leu)	GREB1 (V1057L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378439	NM_014668.4(GREB1):c.3253G>A (p.Glu1085Lys)	GREB1 (E1085K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102253	NM_014668.4(GREB1):c.3332C>T (p.Ser1111Leu)	GREB1 (S1111L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232592	NM_014668.4(GREB1):c.3353A>G (p.Lys1118Arg)	GREB1 (K1118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102254	NM_014668.4(GREB1):c.3368G>A (p.Arg1123His)	GREB1 (R1123H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 152514	GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3	GREB1, LOC100506405 +14 more	Copy number gain	See cases	GLikely benign
Select item 3102255	NM_014668.4(GREB1):c.3427G>A (p.Gly1143Ser)	GREB1 (G1143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650682	NM_014668.4(GREB1):c.3435C>T (p.Ser1145=)	GREB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102256	NM_014668.4(GREB1):c.3466G>C (p.Glu1156Gln)	GREB1 (E1156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102257	NM_014668.4(GREB1):c.3467A>G (p.Glu1156Gly)	GREB1 (E1156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790496	NM_014668.4(GREB1):c.3490C>T (p.Arg1164Cys)	GREB1 (R1164C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2650683	NM_014668.4(GREB1):c.3498C>T (p.Pro1166=)	GREB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367323	NM_014668.4(GREB1):c.3499G>A (p.Ala1167Thr)	GREB1 (A1167T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102258	NM_014668.4(GREB1):c.3502G>C (p.Glu1168Gln)	GREB1 (E1168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102259	NM_014668.4(GREB1):c.3521G>C (p.Gly1174Ala)	GREB1 (G1174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102260	NM_014668.4(GREB1):c.3590C>T (p.Thr1197Met)	GREB1 (T1197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317672	NM_014668.4(GREB1):c.3593C>T (p.Pro1198Leu)	GREB1 (P1198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509365	NM_014668.4(GREB1):c.3601G>A (p.Asp1201Asn)	GREB1 (D1201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282627	NM_014668.4(GREB1):c.3619G>A (p.Gly1207Ser)	GREB1 (G1207S)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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