ClinVar for MedGen (Select 335202) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2441698	NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)	SHROOM4 (G109V)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1803118	NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)	SHROOM4 (W128C)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type +1 more	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 1701742	NM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser)	SHROOM4 (P227S)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1699113	NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu)	SHROOM4 (M814L)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1676600	Single allele	NUDT10, NUDT11 +22 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1676599	Single allele	USP27X, AKAP4 +9 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
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 1676597	NM_020717.5(SHROOM4):c.940G>A (p.Glu314Lys)	SHROOM4 (E314K)	Single nucleotide variant	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1342499	NM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr)	SHROOM4 (R483T)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1342346	NM_020717.5(SHROOM4):c.1214C>A (p.Pro405His)	SHROOM4 (P405H)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
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 1330243	NM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp)	SHROOM4 (L487W)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
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 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 1029775	NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys)	SHROOM4 (Q259K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1029774	NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys)	SHROOM4 (R242C)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	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 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
Select item 1029771	NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala)	SHROOM4 (V620A)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1029770	NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe)	SHROOM4 (S530F)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1029769	NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly)	SHROOM4 (E386G)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 996862	NM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser)	SHROOM4 (A389S)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	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 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 930331	NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr)	SHROOM4 (H788Y)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
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 635462	NM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys)	SHROOM4 (E666K)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type	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 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 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 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 417739	NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)	SHROOM4 (R146W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 197325	NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)	SHROOM4 (E731G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 95973	NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 95971	NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)	SHROOM4	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign
Select item 95970	NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)	SHROOM4	Duplication (inframe_insertion +1 more)	not specified +1 more	GBenign
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

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Items: 41