C2750074[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 227

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 661210	NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro)	SMARCA4 (T3P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 666056	NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg)	SMARCA4 (G10R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 484944	NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu)	SMARCA4 (P12L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 1942941	NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)	SMARCA4 (R13L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 470373	NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)	SMARCA4 (R13Q)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 408598	NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala)	SMARCA4 (P24A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 660003	NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser)	SMARCA4 (P32S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 408639	NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu)	SMARCA4 (P32L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 408713	NM_003072.5(SMARCA4):c.107C>T (p.Pro36Leu)	SMARCA4 (P36L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 822219	NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro)	SMARCA4 (S38P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 537780	NM_003072.5(SMARCA4):c.120C>G (p.His40Gln)	SMARCA4 (H40Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 480692	NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly)	SMARCA4 (S41G)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 3240524	NM_003072.5(SMARCA4):c.122G>T (p.Ser41Ile)	SMARCA4 (S41I)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 408644	NM_003072.5(SMARCA4):c.124A>G (p.Met42Val)	SMARCA4 (M42V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 486481	NM_003072.5(SMARCA4):c.126G>C (p.Met42Ile)	SMARCA4 (M42I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 480556	NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile)	SMARCA4 (M42I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 484835	NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu)	SMARCA4 (M43L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 238372	NM_003072.5(SMARCA4):c.134C>A (p.Pro45His)	SMARCA4 (P45H)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GUncertain significance
Select item 1721074	NM_003072.5(SMARCA4):c.179G>T (p.Gly60Val)	SMARCA4 (G60V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 484905	NM_003072.5(SMARCA4):c.208C>G (p.His70Asp)	SMARCA4 (H70D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 238393	NM_003072.5(SMARCA4):c.218A>G (p.His73Arg)	SMARCA4 (H73R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 408602	NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln)	SMARCA4 (K74Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 580699	NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)	SMARCA4 (E77*)	Single nucleotide variant (nonsense +1 more)	Rhabdoid tumor predisposition syndrome 2	GPathogenic/Likely pathogenic
Select item 484883	NM_003072.5(SMARCA4):c.233C>A (p.Ser78Tyr)	SMARCA4 (S78Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 238402	NM_003072.5(SMARCA4):c.235A>G (p.Met79Val)	SMARCA4 (M79V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GUncertain significance
Select item 3240529	NM_003072.5(SMARCA4):c.237G>A (p.Met79Ile)	SMARCA4 (M79I)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 1313230	NM_003072.5(SMARCA4):c.239A>G (p.His80Arg)	SMARCA4 (H80R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 408672	NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)	SMARCA4 (G83S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 470310	NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu)	SMARCA4 (S85L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 408707	NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)	SMARCA4 (P88L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 408680	NM_003072.5(SMARCA4):c.277A>G (p.Met93Val)	SMARCA4 (M93V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 484912	NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys)	SMARCA4 (G102C)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 470336	NM_003072.5(SMARCA4):c.308A>G (p.His103Arg)	SMARCA4 (H103R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 408630	NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg)	SMARCA4 (G105R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 823059	NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)	SMARCA4 (M106V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 580249	NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr)	SMARCA4 (M113T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 484861	NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu)	SMARCA4 (S122L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 1699709	NM_003072.5(SMARCA4):c.377G>T (p.Gly126Val)	SMARCA4 (G126V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 3240527	NM_003072.5(SMARCA4):c.389C>T (p.Ala130Val)	SMARCA4 (A130V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 470381	NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)	SMARCA4 (A136V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 238450	NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu)	SMARCA4 (P139L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 408627	NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu)	SMARCA4 (S141L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 408628	NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser)	SMARCA4 (P143S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1482213	NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val)	SMARCA4 (A157V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679014	NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)	SMARCA4 (P169A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2106153	NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)	SMARCA4 (T170A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3240526	NM_003072.5(SMARCA4):c.521A>G (p.Gln174Arg)	SMARCA4 (Q174R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 582073	NM_003072.5(SMARCA4):c.553A>G (p.Met185Val)	SMARCA4 (M185V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 826156	NM_003072.5(SMARCA4):c.604A>G (p.Met202Val)	SMARCA4 (M202V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 484934	NM_003072.5(SMARCA4):c.622C>T (p.Arg208Trp)	SMARCA4 (R208W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 480690	NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln)	SMARCA4 (R208Q)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 238506	NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu)	SMARCA4 (P209L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GUncertain significance
Select item 470443	NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)	SMARCA4 (T219M)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 644405	NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro)	SMARCA4 (L220P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 486463	NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr)	SMARCA4 (P221T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 238508	NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)	SMARCA4 (P222L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1754844	NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)	SMARCA4 (P223S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 470445	NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu)	SMARCA4 (S224L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 408603	NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)	SMARCA4 (A227T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 654121	NM_003072.5(SMARCA4):c.696_731del (p.229GP[2])	SMARCA4	Deletion (inframe_deletion +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 826778	NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])	SMARCA4	Microsatellite (inframe_insertion +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1055091	NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)	SMARCA4 (G235D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 135252	NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)	SMARCA4 (P244L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1915315	NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)	SMARCA4 (A245V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 422533	NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)	SMARCA4 (M260L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212261	NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)	SMARCA4 (G264A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 238521	NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu)	SMARCA4 (S266L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 480593	NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp)	SMARCA4 (G267D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 480595	NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del)	SMARCA4	Deletion (inframe_deletion +1 more)	not provided +3 more	GUncertain significance
Select item 238522	NM_003072.5(SMARCA4):c.802G>A (p.Val268Met)	SMARCA4 (V268M)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 470463	NM_003072.5(SMARCA4):c.805C>T (p.Pro269Ser)	SMARCA4 (P269S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1416121	NM_003072.5(SMARCA4):c.806C>T (p.Pro269Leu)	SMARCA4 (P269L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 408641	NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg)	SMARCA4 (G271R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 480580	NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)	SMARCA4 (P277S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 2452881	NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)	SMARCA4 (P285L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 408621	NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser)	SMARCA4 (P288S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 822621	NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu)	SMARCA4 (P288L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 470466	NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val)	SMARCA4 (A290V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 864767	NM_003072.5(SMARCA4):c.890G>A (p.Ser297Asn)	SMARCA4 (S297N)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 650088	NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile)	SMARCA4 (T298I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 480599	NM_003072.5(SMARCA4):c.893C>A (p.Thr298Asn)	SMARCA4 (T298N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 480689	NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu)	SMARCA4 (P307L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 238532	NM_003072.5(SMARCA4):c.947C>T (p.Pro316Leu)	SMARCA4 (P316L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 470471	NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr)	SMARCA4 (A321T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1379667	NM_003072.5(SMARCA4):c.963C>A (p.Ala321=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 480591	NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)	SMARCA4 (V325M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 575020	NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile)	SMARCA4 (M326I)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 238535	NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu)	SMARCA4 (P328L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 238536	NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg)	SMARCA4 (Q329R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 480586	NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile)	SMARCA4 (T330I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 470475	NM_003072.5(SMARCA4):c.995C>A (p.Ser332Tyr)	SMARCA4 (S332Y)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 220684	NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr)	SMARCA4 (P336T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220616	NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)	SMARCA4 (P336L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 238356	NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr)	SMARCA4 (A340T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 470221	NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val)	SMARCA4 (A340V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 238357	NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)	SMARCA4 (M342V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 408678	NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)	SMARCA4 (S350R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 484852	NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His)	SMARCA4 (R351H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 2679017	NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)	SMARCA4 (I355fs)	Deletion (frameshift variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely pathogenic
Select item 3240530	NM_003072.5(SMARCA4):c.1078G>A (p.Gly360Ser)	SMARCA4 (G360S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance

<< First< Prev

Page of 3