"PreventionGenetics, part of Exact Sciences"[submitter] AND "SHROOM3"[ - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040646	NM_020859.4(SHROOM3):c.-8T>A	SHROOM3	Single nucleotide variant (5 prime UTR variant)	SHROOM3-related disorder	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3035613	NM_020859.4(SHROOM3):c.2643G>C (p.Pro881=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 3055331	NM_020859.4(SHROOM3):c.2799C>T (p.Ser933=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GBenign
Select item 3040550	NM_020859.4(SHROOM3):c.2868C>T (p.Ser956=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 1175103	NM_020859.4(SHROOM3):c.2905C>T (p.Arg969Trp)	SHROOM3, SHROOM3-AS1 (R969W)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GLikely benign
Select item 403440	NM_020859.4(SHROOM3):c.2922G>A (p.Ser974=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3042693	NM_020859.4(SHROOM3):c.2928C>T (p.Ser976=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 403441	NM_020859.4(SHROOM3):c.2983C>T (p.Leu995=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder +2 more	GBenign
Select item 1205888	NM_020859.4(SHROOM3):c.3035C>A (p.Thr1012Asn)	SHROOM3, SHROOM3-AS1 (T1012N)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GLikely benign
Select item 3056806	NM_020859.4(SHROOM3):c.3160G>T (p.Val1054Leu)	SHROOM3, SHROOM3-AS1 (V1054L)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GBenign
Select item 735128	NM_020859.4(SHROOM3):c.3160G>A (p.Val1054Met)	SHROOM3, SHROOM3-AS1 (V1054M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3041110	NM_020859.4(SHROOM3):c.3393C>T (p.Ser1131=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GBenign
Select item 2654831	NM_020859.4(SHROOM3):c.3474C>G (p.Ala1158=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2654832	NM_020859.4(SHROOM3):c.3492G>A (p.Gln1164=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636516	NM_020859.4(SHROOM3):c.3499C>T (p.Pro1167Ser)	SHROOM3, SHROOM3-AS1 (P1167S)	Single nucleotide variant (missense variant)	SHROOM3-related disorder	GUncertain significance
Select item 3046035	NM_020859.4(SHROOM3):c.3525C>T (p.Ala1175=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 1280044	NM_020859.4(SHROOM3):c.3869C>T (p.Pro1290Leu)	SHROOM3, SHROOM3-AS1 (P1290L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3051250	NM_020859.4(SHROOM3):c.3870G>A (p.Pro1290=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GBenign
Select item 403442	NM_020859.4(SHROOM3):c.4289G>A (p.Arg1430Gln)	SHROOM3, SHROOM3-AS1 (R1430Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 730397	NM_020859.4(SHROOM3):c.4441A>C (p.Thr1481Pro)	SHROOM3, SHROOM3-AS1 (T1481P)	Single nucleotide variant (missense variant)	SHROOM3-related disorder +1 more	GBenign
Select item 730398	NM_020859.4(SHROOM3):c.4494G>A (p.Pro1498=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder +1 more	GBenign
Select item 709141	NM_020859.4(SHROOM3):c.4519G>A (p.Glu1507Lys)	SHROOM3-AS1, SHROOM3 (E1507K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3040757	NM_020859.4(SHROOM3):c.4581C>T (p.Pro1527=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 3034136	NM_020859.4(SHROOM3):c.4593T>A (p.Pro1531=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 3042733	NM_020859.4(SHROOM3):c.4596T>A (p.Pro1532=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 3040201	NM_020859.4(SHROOM3):c.4602G>A (p.Pro1534=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder	GLikely benign
Select item 725275	NM_020859.4(SHROOM3):c.4602G>T (p.Pro1534=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	SHROOM3-related disorder +1 more	GBenign
Select item 772868	NM_020859.4(SHROOM3):c.4673A>C (p.Gln1558Pro)	SHROOM3-AS1, SHROOM3 (Q1558P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 721106	NM_020859.4(SHROOM3):c.4754T>A (p.Met1585Lys)	SHROOM3, SHROOM3-AS1 (M1585K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 767957	NM_020859.4(SHROOM3):c.5914A>G (p.Asn1972Asp)	SHROOM3, SHROOM3-AS1 (N1972D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 49