"Genome-Nilou Lab"[submitter] AND "SMARCA4"[gene] - ClinVar - NCBI

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	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 573209	NM_003072.5(SMARCA4):c.20C>A (p.Pro7His)	SMARCA4 (P7H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 408617	NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala)	SMARCA4 (T11A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 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 408656	NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)	SMARCA4 (P18L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 238505	NM_003072.5(SMARCA4):c.54G>A (p.Pro18=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GBenign/Likely benign
Select item 537799	NM_003072.5(SMARCA4):c.65C>A (p.Pro22His)	SMARCA4 (P22H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 486459	NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu)	SMARCA4 (P22L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
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 408597	NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg)	SMARCA4 (P24R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 573705	NM_003072.5(SMARCA4):c.74_76del (p.Gly25del)	SMARCA4 (G25del)	Deletion (inframe_deletion +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 135246	NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)	SMARCA4 (A26T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 408709	NM_003072.5(SMARCA4):c.79A>G (p.Met27Val)	SMARCA4 (M27V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 649569	NM_003072.5(SMARCA4):c.88C>T (p.Pro30Ser)	SMARCA4 (P30S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
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 470224	NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu)	SMARCA4 (S35L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 480557	NM_003072.5(SMARCA4):c.108G>A (p.Pro36=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 408710	NM_003072.5(SMARCA4):c.115G>A (p.Ala39Thr)	SMARCA4 (A39T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 212233	NM_003072.5(SMARCA4):c.120C>T (p.His40=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
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 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 480655	NM_003072.5(SMARCA4):c.131G>A (p.Gly44Glu)	SMARCA4 (G44E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
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 819122	NM_003072.5(SMARCA4):c.140C>T (p.Pro47Leu)	SMARCA4 (P47L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 480629	NM_003072.5(SMARCA4):c.144G>T (p.Gly48=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GLikely benign
Select item 328018	NM_003072.5(SMARCA4):c.147G>A (p.Pro49=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely benign
Select item 408708	NM_003072.5(SMARCA4):c.154G>A (p.Ala52Thr)	SMARCA4 (A52T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 470251	NM_003072.5(SMARCA4):c.162C>A (p.His54Gln)	SMARCA4 (H54Q)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 484891	NM_003072.5(SMARCA4):c.163C>T (p.Pro55Ser)	SMARCA4 (P55S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 820079	NM_003072.5(SMARCA4):c.178G>A (p.Gly60Arg)	SMARCA4 (G60R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 484949	NM_003072.5(SMARCA4):c.181C>T (p.Pro61Ser)	SMARCA4 (P61S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 941608	NM_003072.5(SMARCA4):c.182C>T (p.Pro61Leu)	SMARCA4 (P61L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 470281	NM_003072.5(SMARCA4):c.206T>C (p.Met69Thr)	SMARCA4 (M69T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 484941	NM_003072.5(SMARCA4):c.207G>A (p.Met69Ile)	SMARCA4 (M69I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 238390	NM_003072.5(SMARCA4):c.207G>T (p.Met69Ile)	SMARCA4 (M69I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
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 328019	NM_003072.5(SMARCA4):c.222+14T>C	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 238395	NM_003072.5(SMARCA4):c.223-7C>G	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GConflicting classifications of pathogenicity
Select item 212239	NM_003072.5(SMARCA4):c.223-5C>T	SMARCA4	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 480641	NM_003072.5(SMARCA4):c.223-4G>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 415064	NM_003072.5(SMARCA4):c.223-4G>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely benign
Select item 470296	NM_003072.5(SMARCA4):c.226A>G (p.Met76Val)	SMARCA4 (M76V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 658390	NM_003072.5(SMARCA4):c.227T>C (p.Met76Thr)	SMARCA4 (M76T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 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 571186	NM_003072.5(SMARCA4):c.251T>C (p.Met84Thr)	SMARCA4 (M84T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
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 415145	NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely benign
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 573870	NM_003072.5(SMARCA4):c.265C>T (p.Arg89Cys)	SMARCA4 (R89C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 484913	NM_003072.5(SMARCA4):c.271A>C (p.Asn91His)	SMARCA4 (N91H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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 822366	NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp)	SMARCA4 (R99W)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 432670	NM_003072.5(SMARCA4):c.296G>A (p.Arg99Gln)	SMARCA4 (R99Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 470333	NM_003072.5(SMARCA4):c.303G>T (p.Gly101=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 480560	NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)	SMARCA4 (G102V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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 470339	NM_003072.5(SMARCA4):c.311C>T (p.Ala104Val)	SMARCA4 (A104V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 220949	NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu)	SMARCA4 (P109L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 823575	NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly)	SMARCA4 (S111G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 389324	NM_003072.5(SMARCA4):c.335C>T (p.Pro112Leu)	SMARCA4 (P112L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GUncertain significance
Select item 663728	NM_003072.5(SMARCA4):c.337A>G (p.Met113Val)	SMARCA4 (M113V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 484897	NM_003072.5(SMARCA4):c.344A>G (p.Gln115Arg)	SMARCA4 (Q115R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 470355	NM_003072.5(SMARCA4):c.350C>G (p.Ser117Cys)	SMARCA4 (S117C)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 484845	NM_003072.5(SMARCA4):c.355+4C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 470361	NM_003072.5(SMARCA4):c.355+5A>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 328020	NM_003072.5(SMARCA4):c.355+9C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +2 more	GBenign/Likely benign
Select item 328021	NM_003072.5(SMARCA4):c.356-14A>G	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 480602	NM_003072.5(SMARCA4):c.356-4G>T	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 639893	NM_003072.5(SMARCA4):c.356G>A (p.Gly119Asp)	SMARCA4 (G119D)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	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 470366	NM_003072.5(SMARCA4):c.372G>A (p.Leu124=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GLikely benign
Select item 377351	NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe)	SMARCA4 (V134F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 824657	NM_003072.5(SMARCA4):c.418T>C (p.Ser140Pro)	SMARCA4 (S140P)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 408660	NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val)	SMARCA4 (G142V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 415069	NM_003072.5(SMARCA4):c.441C>T (p.Ser147=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely benign
Select item 220638	NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)	SMARCA4 (G148R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 480551	NM_003072.5(SMARCA4):c.443G>T (p.Gly148Val)	SMARCA4 (G148V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 480612	NM_003072.5(SMARCA4):c.450A>T (p.Gly150=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 480609	NM_003072.5(SMARCA4):c.451G>A (p.Gly151Ser)	SMARCA4 (G151S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 484884	NM_003072.5(SMARCA4):c.455C>T (p.Ala152Val)	SMARCA4 (A152V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 663612	NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)	SMARCA4 (P153L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 238476	NM_003072.5(SMARCA4):c.459G>A (p.Pro153=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
Select item 486480	NM_003072.5(SMARCA4):c.467G>A (p.Gly156Asp)	SMARCA4 (G156D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 480665	NM_003072.5(SMARCA4):c.489G>T (p.Gly163=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 470430	NM_003072.5(SMARCA4):c.499C>T (p.Arg167Trp)	SMARCA4 (R167W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance

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