SHROOM4[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695298	NM_020717.5(SHROOM4):c.4439A>G (p.Lys1480Arg)	SHROOM4 (K1480R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3242058	NM_020717.5(SHROOM4):c.4388T>C (p.Ile1463Thr)	SHROOM4 (I1463T)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 2255793	NM_020717.5(SHROOM4):c.4352A>G (p.Tyr1451Cys)	SHROOM4 (Y1451C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029773	NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His)	SHROOM4 (R1441H)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 436723	NM_020717.5(SHROOM4):c.4321C>T (p.Arg1441Cys)	SHROOM4 (R1441C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484788	NM_020717.5(SHROOM4):c.4310G>A (p.Gly1437Asp)	SHROOM4 (G1437D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 453008	NM_020717.5(SHROOM4):c.4303G>T (p.Val1435Leu)	SHROOM4 (V1435L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 810600	NM_020717.5(SHROOM4):c.4288C>T (p.Arg1430Cys)	SHROOM4 (R1430C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2351802	NM_020717.5(SHROOM4):c.4282G>A (p.Val1428Met)	SHROOM4 (V1428M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1695299	NM_020717.5(SHROOM4):c.4281C>T (p.His1427=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1321285	NM_020717.5(SHROOM4):c.4212+1G>A	SHROOM4	Single nucleotide variant (splice donor variant)	X-linked intellectual disability, Stocco dos Santos type	GLikely pathogenic
Select item 2689980	NM_020717.5(SHROOM4):c.4201A>C (p.Asn1401His)	SHROOM4 (N1401H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 452789	NM_020717.5(SHROOM4):c.4114C>A (p.Leu1372Met)	SHROOM4 (L1372M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3053385	NM_020717.5(SHROOM4):c.4110G>A (p.Gly1370=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	SHROOM4-related disorder	GLikely benign
Select item 2546323	NM_020717.5(SHROOM4):c.4109G>A (p.Gly1370Glu)	SHROOM4 (G1370E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 95974	NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe)	SHROOM4 (L1367F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 212181	NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile)	SHROOM4 (V1356I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2660555	NM_020717.5(SHROOM4):c.4065C>A (p.Ala1355=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660554	NM_020717.5(SHROOM4):c.4065C>T (p.Ala1355=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660556	NM_020717.5(SHROOM4):c.4030G>T (p.Ala1344Ser)	SHROOM4 (A1344S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 225086	NM_020717.5(SHROOM4):c.3998G>A (p.Arg1333Gln)	SHROOM4 (R1333Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587460	NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys)	SHROOM4 (E1319K)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 130312	NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)	SHROOM4 (I1315T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1332952	NM_020717.5(SHROOM4):c.3942+48T>C	SHROOM4	Single nucleotide variant (intron variant)	X-linked intellectual disability, Stocco dos Santos type	GBenign
Select item 1676598	NM_020717.5(SHROOM4):c.3942+1G>A	SHROOM4	Single nucleotide variant (splice donor variant)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 2496012	NM_020717.5(SHROOM4):c.3939A>T (p.Lys1313Asn)	SHROOM4 (K1313N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1706457	NM_020717.5(SHROOM4):c.3919G>A (p.Asp1307Asn)	SHROOM4 (D1307N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2482840	NM_020717.5(SHROOM4):c.3832A>G (p.Asn1278Asp)	SHROOM4 (N1278D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660557	NM_020717.5(SHROOM4):c.3774G>T (p.Gln1258His)	SHROOM4 (Q1258H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2369608	NM_020717.5(SHROOM4):c.3758C>T (p.Ala1253Val)	SHROOM4 (A1253V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660558	NM_020717.5(SHROOM4):c.3756C>T (p.Ser1252=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 280530	NM_020717.5(SHROOM4):c.3739C>T (p.Gln1247Ter)	SHROOM4 (Q1247*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 130311	NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu)	SHROOM4 (S1245L)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 379473	NM_020717.5(SHROOM4):c.3645C>G (p.Phe1215Leu)	SHROOM4 (F1215L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 810601	NM_020717.5(SHROOM4):c.3626C>T (p.Ala1209Val)	SHROOM4 (A1209V)	Single nucleotide variant (missense variant +1 more)	SHROOM4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 130310	NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)	SHROOM4 (E1204G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3162017	NM_020717.5(SHROOM4):c.3601G>A (p.Val1201Ile)	SHROOM4 (V1201I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1033952	NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln)	SHROOM4 (E1181Q)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1336131	NM_020717.5(SHROOM4):c.3533A>G (p.Glu1178Gly)	SHROOM4 (E1178G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 590241	NM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	History of neurodevelopmental disorder +1 more	GLikely benign
Select item 2660559	NM_020717.5(SHROOM4):c.3498A>G (p.Ser1166=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 95973	NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	X-linked intellectual disability, Stocco dos Santos type +1 more	GBenign
Select item 590255	NM_020717.5(SHROOM4):c.3440AGG[6] (p.Glu1151dup)	SHROOM4	Microsatellite (inframe_insertion +1 more)	not specified	GBenign
Select item 2404040	NM_020717.5(SHROOM4):c.3442G>A (p.Glu1148Lys)	SHROOM4 (E1148K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 130306	NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs)	SHROOM4 (E1139fs)	Duplication (frameshift variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 287471	NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup)	SHROOM4	Indel (inframe_insertion +1 more)	X-linked intellectual disability, Stocco dos Santos type +1 more	GBenign/Likely benign
Select item 95972	NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	SHROOM4-related disorder +1 more	GBenign
Select item 95971	NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)	SHROOM4	Microsatellite (inframe_insertion +1 more)	X-linked intellectual disability, Stocco dos Santos type +1 more	GBenign
Select item 590248	NM_020717.5(SHROOM4):c.3393GGA[6] (p.Glu1151del)	SHROOM4 (E1151del)	Microsatellite (inframe_deletion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1730920	NM_020717.5(SHROOM4):c.3393_3394insCAGAAGCAACAGGAG (p.Gln1131_Glu1132insGlnLysGlnGlnGlu)	SHROOM4	Insertion (inframe_insertion +1 more)	not specified	GBenign
Select item 871788	NM_020717.5(SHROOM4):c.3394G>A (p.Glu1132Lys)	SHROOM4 (E1132K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 198240	NM_020717.5(SHROOM4):c.3390A>G (p.Gln1130=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1730847	NM_020717.5(SHROOM4):c.3385A>C (p.Lys1129Gln)	SHROOM4 (K1129Q)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1730841	NM_020717.5(SHROOM4):c.3384G>A (p.Gln1128=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 95970	NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)	SHROOM4	Duplication (inframe_insertion +1 more)	X-linked intellectual disability, Stocco dos Santos type +1 more	GBenign
Select item 1695300	NM_020717.5(SHROOM4):c.3372_3374dup (p.Gln1128_Lys1129insGln)	SHROOM4	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2689982	NM_020717.5(SHROOM4):c.3370C>G (p.Gln1124Glu)	SHROOM4 (Q1124E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689977	NM_020717.5(SHROOM4):c.3317C>T (p.Pro1106Leu)	SHROOM4 (P1106L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2345435	NM_020717.5(SHROOM4):c.3308G>A (p.Arg1103His)	SHROOM4 (R1103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397731	NM_020717.5(SHROOM4):c.3277G>A (p.Gly1093Arg)	SHROOM4 (G1093R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 10795	NM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu)	SHROOM4 (S1089L)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 3162016	NM_020717.5(SHROOM4):c.3237G>C (p.Glu1079Asp)	SHROOM4 (E1079D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 167687	NM_020717.5(SHROOM4):c.3211C>T (p.Arg1071Trp)	SHROOM4 (R1071W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334592	NM_020717.5(SHROOM4):c.3207C>A (p.Ser1069Arg)	SHROOM4 (S1069R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992377	NM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu)	SHROOM4 (F1058L)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 95969	NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	SHROOM4-related disorder +1 more	GBenign
Select item 2441846	NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)	SHROOM4 (R1056C)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 2689978	NM_020717.5(SHROOM4):c.3160C>T (p.Arg1054Cys)	SHROOM4 (R1054C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 235507	NM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile)	SHROOM4 (M1049I)	Single nucleotide variant (missense variant +1 more)	History of neurodevelopmental disorder +1 more	GBenign
Select item 212180	NM_020717.5(SHROOM4):c.3140C>G (p.Ala1047Gly)	SHROOM4 (A1047G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 425499	NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)	SHROOM4 (E1035A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 638434	NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro)	SHROOM4 (L1024P)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 2689979	NM_020717.5(SHROOM4):c.3044A>G (p.Tyr1015Cys)	SHROOM4 (Y1015C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3052045	NM_020717.5(SHROOM4):c.3034T>C (p.Leu1012=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	SHROOM4-related disorder	GLikely benign
Select item 916368	NM_020717.5(SHROOM4):c.3033C>T (p.Asp1011=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2282487	NM_020717.5(SHROOM4):c.2917A>G (p.Asn973Asp)	SHROOM4 (N973D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2689981	NM_020717.5(SHROOM4):c.2906G>A (p.Gly969Glu)	SHROOM4 (G969E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 212179	NM_020717.5(SHROOM4):c.2896-17A>G	SHROOM4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1299186	NM_020717.5(SHROOM4):c.2891T>G (p.Val964Gly)	SHROOM4 (V964G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3162015	NM_020717.5(SHROOM4):c.2878A>G (p.Arg960Gly)	SHROOM4 (R960G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485101	NM_020717.5(SHROOM4):c.2876C>T (p.Pro959Leu)	SHROOM4 (P959L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3030886	NM_020717.5(SHROOM4):c.2874A>C (p.Lys958Asn)	SHROOM4 (K958N)	Single nucleotide variant (missense variant +1 more)	SHROOM4-related disorder	GLikely benign
Select item 3036292	NM_020717.5(SHROOM4):c.2867C>G (p.Thr956Ser)	SHROOM4 (T956S)	Single nucleotide variant (missense variant +1 more)	SHROOM4-related disorder	GLikely benign
Select item 3239248	NM_020717.5(SHROOM4):c.2839G>A (p.Glu947Lys)	SHROOM4 (E947K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1796453	NM_020717.5(SHROOM4):c.2821C>T (p.Pro941Ser)	SHROOM4 (P941S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 493522	NM_020717.5(SHROOM4):c.2815C>T (p.His939Tyr)	SHROOM4 (H939Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 982951	NM_020717.5(SHROOM4):c.2798G>A (p.Arg933Gln)	SHROOM4 (R933Q)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GLikely benign
Select item 3162013	NM_020717.5(SHROOM4):c.2779C>T (p.His927Tyr)	SHROOM4 (H927Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 493523	NM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp)	SHROOM4 (R925W)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type +1 more	GUncertain significance
Select item 3162012	NM_020717.5(SHROOM4):c.2755C>T (p.Pro919Ser)	SHROOM4 (P919S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033561	NM_020717.5(SHROOM4):c.2750T>G (p.Met917Arg)	SHROOM4 (M917R)	Single nucleotide variant (missense variant +1 more)	SHROOM4-related disorder	GUncertain significance
Select item 2329579	NM_020717.5(SHROOM4):c.2713T>C (p.Ser905Pro)	SHROOM4 (S905P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475284	NM_020717.5(SHROOM4):c.2712T>G (p.Cys904Trp)	SHROOM4 (C904W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 634514	NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile)	SHROOM4 (S891I)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1690856	NM_020717.5(SHROOM4):c.2631T>C (p.Cys877=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	See cases	GUncertain significance
Select item 3162011	NM_020717.5(SHROOM4):c.2629T>C (p.Cys877Arg)	SHROOM4 (C877R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530649	NM_020717.5(SHROOM4):c.2628C>G (p.His876Gln)	SHROOM4 (H876Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487678	NM_020717.5(SHROOM4):c.2615G>T (p.Cys872Phe)	SHROOM4 (C872F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162010	NM_020717.5(SHROOM4):c.2545C>A (p.Pro849Thr)	SHROOM4 (P849T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029772	NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile)	SHROOM4 (T840I)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance

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