Related gene-specific medical variations for Gene (Select 57477) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062490	GRCh37/hg19 Xp11.22(chrX:50358510-50388793)	SHROOM4	Copy number loss	not specified	GUncertain significance
Select item 2689983	NM_020717.5(SHROOM4):c.1744C>T (p.Arg582Trp)	SHROOM4 (R582W)	Single nucleotide variant (missense variant +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 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 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 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 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 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 2689976	NM_020717.5(SHROOM4):c.384G>A (p.Trp128Ter)	SHROOM4 (W128*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2689975	NM_020717.5(SHROOM4):c.1747C>T (p.Arg583Trp)	SHROOM4 (R583W)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 975167	NM_020717.5(SHROOM4):c.2335G>A (p.Glu779Lys)	SHROOM4 (E779K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
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 425499	NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)	SHROOM4 (E1035A)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability, Stocco dos Santos type +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 21