SHROOM3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	AMBN, LOC121053187 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 1178142	NC_000004.12:g.76435093C>T	SHROOM3	Single nucleotide variant	not provided	GBenign
Select item 3040646	NM_020859.4(SHROOM3):c.-8T>A	SHROOM3	Single nucleotide variant (5 prime UTR variant)	SHROOM3-related disorder	GBenign
Select item 3161964	NM_020859.4(SHROOM3):c.11C>A (p.Thr4Asn)	SHROOM3 (T4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338917	NM_020859.4(SHROOM3):c.68G>A (p.Gly23Glu)	SHROOM3 (G23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265580	NM_020859.4(SHROOM3):c.74A>G (p.Tyr25Cys)	SHROOM3 (Y25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547194	NM_020859.4(SHROOM3):c.88G>A (p.Ala30Thr)	SHROOM3 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1289955	NM_020859.4(SHROOM3):c.168+118_168+119insT	SHROOM3	Insertion (intron variant)	not provided	GBenign
Select item 1179242	NM_020859.4(SHROOM3):c.168+119C>A	SHROOM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227310	NM_020859.4(SHROOM3):c.168+124_168+125insAAA	SHROOM3	Insertion (intron variant)	not provided	GBenign
Select item 1280311	NM_020859.4(SHROOM3):c.168+125G>T	SHROOM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180265	NM_020859.4(SHROOM3):c.168+155G>T	SHROOM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286515	NM_020859.4(SHROOM3):c.168+219T>C	SHROOM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263431	NM_020859.4(SHROOM3):c.168+11474G>A	SHROOM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686322	NM_020859.4(SHROOM3):c.179G>T (p.Gly60Val)	SHROOM3 (G60V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2337006	NM_020859.4(SHROOM3):c.196C>G (p.Leu66Val)	SHROOM3 (L66V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785098	NM_020859.4(SHROOM3):c.216T>C (p.Ala72=)	SHROOM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3055367	NM_020859.4(SHROOM3):c.316G>C (p.Val106Leu)	SHROOM3 (V106L)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GLikely benign
Select item 2216388	NM_020859.4(SHROOM3):c.319C>T (p.Arg107Cys)	SHROOM3 (R107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161986	NM_020859.4(SHROOM3):c.401C>A (p.Pro134His)	SHROOM3, SHROOM3-AS1 (P134H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2357188	NM_020859.4(SHROOM3):c.406C>T (p.His136Tyr)	SHROOM3, SHROOM3-AS1 (H136Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379078	NM_020859.4(SHROOM3):c.418G>A (p.Ala140Thr)	SHROOM3, SHROOM3-AS1 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238813	NM_020859.4(SHROOM3):c.440T>A (p.Leu147His)	SHROOM3, SHROOM3-AS1 (L147H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2654829	NM_020859.4(SHROOM3):c.442C>T (p.Arg148Trp)	SHROOM3, SHROOM3-AS1 (R148W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3038663	NM_020859.4(SHROOM3):c.556G>C (p.Gly186Arg)	SHROOM3, SHROOM3-AS1 (G186R)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GBenign
Select item 1236225	NM_020859.4(SHROOM3):c.587+131T>C	SHROOM3, SHROOM3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2337045	NM_020859.4(SHROOM3):c.610A>C (p.Asn204His)	SHROOM3, SHROOM3-AS1 (N204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050398	NM_020859.4(SHROOM3):c.619C>T (p.His207Tyr)	SHROOM3, SHROOM3-AS1 (H207Y)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GBenign
Select item 2211690	NM_020859.4(SHROOM3):c.635G>A (p.Arg212Gln)	SHROOM3, SHROOM3-AS1 (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339480	NM_020859.4(SHROOM3):c.647A>G (p.Gln216Arg)	SHROOM3, SHROOM3-AS1 (Q216R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3052271	NM_020859.4(SHROOM3):c.697C>A (p.Pro233Thr)	SHROOM3, SHROOM3-AS1 (P233T)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GLikely benign
Select item 2305469	NM_020859.4(SHROOM3):c.730G>A (p.Gly244Ser)	SHROOM3, SHROOM3-AS1 (G244S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536178	NM_020859.4(SHROOM3):c.748A>T (p.Ser250Cys)	SHROOM3, SHROOM3-AS1 (S250C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394174	NM_020859.4(SHROOM3):c.767G>A (p.Arg256Lys)	SHROOM3, SHROOM3-AS1 (R256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595760	NM_020859.4(SHROOM3):c.822C>A (p.His274Gln)	SHROOM3, SHROOM3-AS1 (H274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403437	NM_020859.4(SHROOM3):c.836G>C (p.Gly279Ala)	SHROOM3, SHROOM3-AS1 (G279A)	Single nucleotide variant (missense variant)	SHROOM3-related disorder +2 more	GBenign
Select item 2524705	NM_020859.4(SHROOM3):c.856A>G (p.Met286Val)	SHROOM3, SHROOM3-AS1 (M286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534092	NM_020859.4(SHROOM3):c.890A>C (p.Glu297Ala)	SHROOM3, SHROOM3-AS1 (E297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403438	NM_020859.4(SHROOM3):c.973T>G (p.Ser325Ala)	SHROOM3, SHROOM3-AS1 (S325A)	Single nucleotide variant (missense variant)	SHROOM3-related disorder +1 more	GBenign
Select item 2521855	NM_020859.4(SHROOM3):c.1054C>T (p.Arg352Trp)	SHROOM3, SHROOM3-AS1 (R352W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732366	NM_020859.4(SHROOM3):c.1055G>A (p.Arg352Gln)	SHROOM3, SHROOM3-AS1 (R352Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2600995	NM_020859.4(SHROOM3):c.1058G>A (p.Gly353Asp)	SHROOM3, SHROOM3-AS1 (G353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161961	NM_020859.4(SHROOM3):c.1067T>C (p.Val356Ala)	SHROOM3, SHROOM3-AS1 (V356A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3048279	NM_020859.4(SHROOM3):c.1101T>G (p.Ser367Arg)	SHROOM3, SHROOM3-AS1 (S367R)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GLikely benign
Select item 218114	NM_020859.4(SHROOM3):c.1176C>G (p.Tyr392Ter)	SHROOM3, SHROOM3-AS1 (Y392*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2541331	NM_020859.4(SHROOM3):c.1177G>A (p.Ala393Thr)	SHROOM3, SHROOM3-AS1 (A393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161962	NM_020859.4(SHROOM3):c.1186C>T (p.Arg396Trp)	SHROOM3, SHROOM3-AS1 (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349325	NM_020859.4(SHROOM3):c.1193G>A (p.Arg398His)	SHROOM3, SHROOM3-AS1 (R398H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411847	NM_020859.4(SHROOM3):c.1217G>A (p.Ser406Asn)	SHROOM3, SHROOM3-AS1 (S406N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790003	NM_020859.4(SHROOM3):c.1224T>C (p.Asp408=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2404793	NM_020859.4(SHROOM3):c.1229A>C (p.Lys410Thr)	SHROOM3, SHROOM3-AS1 (K410T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544652	NM_020859.4(SHROOM3):c.1230A>T (p.Lys410Asn)	SHROOM3, SHROOM3-AS1 (K410N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161965	NM_020859.4(SHROOM3):c.1240C>T (p.Arg414Trp)	SHROOM3, SHROOM3-AS1 (R414W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053420	NM_020859.4(SHROOM3):c.1263C>T (p.Gly421=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 2599734	NM_020859.4(SHROOM3):c.1346A>G (p.Lys449Arg)	SHROOM3, SHROOM3-AS1 (K449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259839	NM_020859.4(SHROOM3):c.1350T>A (p.His450Gln)	SHROOM3, SHROOM3-AS1 (H450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759503	NM_020859.4(SHROOM3):c.1368C>G (p.Ala456=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213066	NM_020859.4(SHROOM3):c.1381C>A (p.Pro461Thr)	SHROOM3, SHROOM3-AS1 (P461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403439	NM_020859.4(SHROOM3):c.1405C>G (p.Pro469Ala)	SHROOM3-AS1, SHROOM3 (P469A)	Single nucleotide variant (missense variant)	SHROOM3-related disorder +2 more	GBenign
Select item 2261600	NM_020859.4(SHROOM3):c.1408G>C (p.Val470Leu)	SHROOM3, SHROOM3-AS1 (V470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039604	NM_020859.4(SHROOM3):c.1413T>G (p.Pro471=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 2620803	NM_020859.4(SHROOM3):c.1463A>G (p.Asn488Ser)	SHROOM3, SHROOM3-AS1 (N488S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407414	NM_020859.4(SHROOM3):c.1519G>A (p.Ala507Thr)	SHROOM3, SHROOM3-AS1 (A507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161966	NM_020859.4(SHROOM3):c.1532T>C (p.Met511Thr)	SHROOM3, SHROOM3-AS1 (M511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1205919	NM_020859.4(SHROOM3):c.1691A>C (p.Glu564Ala)	SHROOM3, SHROOM3-AS1 (E564A)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GLikely benign
Select item 2220923	NM_020859.4(SHROOM3):c.1777A>G (p.Ser593Gly)	SHROOM3, SHROOM3-AS1 (S593G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 735127	NM_020859.4(SHROOM3):c.1839G>A (p.Ala613=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2472027	NM_020859.4(SHROOM3):c.1859C>T (p.Ser620Phe)	SHROOM3, SHROOM3-AS1 (S620F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469674	NM_020859.4(SHROOM3):c.1879G>A (p.Glu627Lys)	SHROOM3, SHROOM3-AS1 (E627K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468914	NM_020859.4(SHROOM3):c.1982C>A (p.Ala661Asp)	SHROOM3, SHROOM3-AS1 (A661D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551139	NM_020859.4(SHROOM3):c.2002A>G (p.Ile668Val)	SHROOM3, SHROOM3-AS1 (I668V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161967	NM_020859.4(SHROOM3):c.2006C>T (p.Pro669Leu)	SHROOM3, SHROOM3-AS1 (P669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287570	NM_020859.4(SHROOM3):c.2045G>A (p.Arg682Gln)	SHROOM3, SHROOM3-AS1 (R682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475983	NM_020859.4(SHROOM3):c.2083T>C (p.Cys695Arg)	SHROOM3, SHROOM3-AS1 (C695R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345331	NM_020859.4(SHROOM3):c.2096C>T (p.Thr699Ile)	SHROOM3, SHROOM3-AS1 (T699I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046757	NM_020859.4(SHROOM3):c.2103A>G (p.Ala701=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 2591182	NM_020859.4(SHROOM3):c.2143C>A (p.His715Asn)	SHROOM3, SHROOM3-AS1 (H715N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714948	NM_020859.4(SHROOM3):c.2153G>A (p.Arg718Gln)	SHROOM3, SHROOM3-AS1 (R718Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 797486	NM_020859.4(SHROOM3):c.2235G>A (p.Pro745=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3161969	NM_020859.4(SHROOM3):c.2243C>G (p.Pro748Arg)	SHROOM3, SHROOM3-AS1 (P748R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042762	NM_020859.4(SHROOM3):c.2262C>T (p.Ser754=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 1297724	NM_020859.4(SHROOM3):c.2266C>T (p.Leu756=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791979	NM_020859.4(SHROOM3):c.2295C>T (p.Ser765=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3161970	NM_020859.4(SHROOM3):c.2339C>T (p.Ser780Leu)	SHROOM3, SHROOM3-AS1 (S780L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253774	NM_020859.4(SHROOM3):c.2397T>G (p.Ser799Arg)	SHROOM3, SHROOM3-AS1 (S799R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038405	NM_020859.4(SHROOM3):c.2442C>T (p.Thr814=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 2261291	NM_020859.4(SHROOM3):c.2459C>T (p.Thr820Ile)	SHROOM3, SHROOM3-AS1 (T820I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293188	NM_020859.4(SHROOM3):c.2462C>A (p.Ser821Tyr)	SHROOM3, SHROOM3-AS1 (S821Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161971	NM_020859.4(SHROOM3):c.2468A>G (p.Asn823Ser)	SHROOM3, SHROOM3-AS1 (N823S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538123	NM_020859.4(SHROOM3):c.2498G>A (p.Arg833His)	SHROOM3, SHROOM3-AS1 (R833H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328592	NM_020859.4(SHROOM3):c.2525G>A (p.Gly842Asp)	SHROOM3, SHROOM3-AS1 (G842D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245437	NM_020859.4(SHROOM3):c.2549A>G (p.Asn850Ser)	SHROOM3, SHROOM3-AS1 (N850S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161972	NM_020859.4(SHROOM3):c.2615C>G (p.Ser872Trp)	SHROOM3, SHROOM3-AS1 (S872W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035613	NM_020859.4(SHROOM3):c.2643G>C (p.Pro881=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign

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