"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 130312	NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)	SHROOM4 (I1315T)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GConflicting classifications of pathogenicity
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 130310	NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)	SHROOM4 (E1204G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 95973	NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 95972	NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 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 95969	NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not specified +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 212179	NM_020717.5(SHROOM4):c.2896-17A>G	SHROOM4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 436725	NM_020717.5(SHROOM4):c.2509T>C (p.Tyr837His)	SHROOM4 (Y837H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 197325	NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)	SHROOM4 (E731G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 130308	NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser)	SHROOM4 (P627S)	Single nucleotide variant (missense variant +1 more)	History of neurodevelopmental disorder +1 more	GLikely benign
Select item 436721	NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys)	SHROOM4 (E559K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130307	NM_020717.5(SHROOM4):c.1627A>T (p.Thr543Ser)	SHROOM4 (T543S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 810603	NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg)	SHROOM4 (S351R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1336373	NM_020717.5(SHROOM4):c.917C>T (p.Pro306Leu)	SHROOM4 (P306L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336649	NM_020717.5(SHROOM4):c.747C>T (p.Thr249=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 212182	NM_020717.5(SHROOM4):c.731A>G (p.Asn244Ser)	SHROOM4 (N244S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 130313	NM_020717.5(SHROOM4):c.439C>T (p.His147Tyr)	SHROOM4 (H147Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1336402	NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln)	SHROOM4 (R146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 436722	NM_020717.5(SHROOM4):c.316C>T (p.Leu106=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 212178	NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys)	SHROOM4 (R89K)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 212177	NM_020717.5(SHROOM4):c.245G>A (p.Arg82Gln)	SHROOM4 (R82Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 130314	NM_020717.5(SHROOM4):c.96T>C (p.Cys32=)	SHROOM4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 436726	NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)	SHROOM4 (Y10*)	Single nucleotide variant (nonsense +1 more)	not specified	GConflicting classifications of pathogenicity

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Items: 30