ClinVar for MedGen (Select 766163) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 664

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062125	NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)	SMARCA4 (L893R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 2663773	NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)	SMARCA4 (S1238A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 2444058	NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)	SMARCA4 (R451L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 2433576	NM_003072.5(SMARCA4):c.2506-2A>G	SMARCA4	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 2431779	NM_003072.5(SMARCA4):c.4601A>G (p.Gln1534Arg)	SMARCA4 (Q1500R +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1805788	NM_003072.5(SMARCA4):c.557C>G (p.Ala186Gly)	SMARCA4 (A186G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1803184	NM_003072.5(SMARCA4):c.1345G>A (p.Glu449Lys)	SMARCA4 (E449K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1802555	NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)	SMARCA4 (E1023G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1788841	NM_003072.5(SMARCA4):c.2275-1G>C	SMARCA4	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1698826	NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg)	SMARCA4 (L476R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1698824	NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter)	SMARCA4 (Q895*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 16	GPathogenic
Select item 1698715	NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser)	SMARCA4 (N916S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1696730	NM_003072.5(SMARCA4):c.3383-36C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1693288	NM_003072.5(SMARCA4):c.2450A>T (p.Asn817Ile)	SMARCA4 (N817I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1691499	NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln)	SMARCA4 (R842Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1691273	NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His)	SMARCA4 (N1047H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1627024	NM_003072.5(SMARCA4):c.1245+18C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 1583795	NM_003072.5(SMARCA4):c.1813-15A>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 1546409	NM_003072.5(SMARCA4):c.2505+14A>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 1432997	NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile)	SMARCA4 (V1374I +3 more)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 1374544	NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala)	SMARCA4 (T565A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 1344908	NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)	SMARCA4 (H1273R)	Single nucleotide variant (intron variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1342164	NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys)	SMARCA4 (W825C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GPathogenic
Select item 1338815	NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter)	SMARCA4 (W818*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1333673	NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)	SMARCA4 (R978Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1325852	NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)	SMARCA4 (E488K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1301646	NM_003072.5(SMARCA4):c.2014G>C (p.Glu672Gln)	SMARCA4 (E672Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1294428	NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)	SMARCA4 (R1244C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1294427	NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala)	SMARCA4 (G1159A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1294426	NM_003072.5(SMARCA4):c.1273C>T (p.Arg425Trp)	SMARCA4 (R425W)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 1177367	NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu)	SMARCA4 (P913L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +1 more	GLikely pathogenic
Select item 1177366	NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)	SMARCA4 (M886V)	Single nucleotide variant (missense variant +1 more)	SMARCA4-related BAFopathy +4 more	GConflicting classifications of pathogenicity
Select item 1177356	NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu)	SMARCA4 (R549L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +1 more	GLikely pathogenic
Select item 1064050	NM_003072.5(SMARCA4):c.4902A>C (p.Glu1634Asp)	SMARCA4 (E1600D +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GUncertain significance
Select item 1054099	NM_003072.5(SMARCA4):c.4769C>T (p.Ser1590Phe)	SMARCA4 (S1556F +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1040424	NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met)	SMARCA4 (T794M)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 1030174	NM_003072.5(SMARCA4):c.4_5dup	SMARCA4	Duplication (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1021789	NM_003072.5(SMARCA4):c.4432G>C (p.Gly1478Arg)	SMARCA4 (G1444R +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 1020994	NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys)	SMARCA4 (R549C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1015920	NM_003072.5(SMARCA4):c.4742_4747dup (p.Gly1581_Glu1582dup)	SMARCA4	Duplication (inframe_insertion +1 more)	not provided +3 more	GUncertain significance
Select item 1010077	NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr)	SMARCA4 (A677T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +1 more	GUncertain significance
Select item 982419	NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser)	SMARCA4 (A826S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 945571	NM_003072.5(SMARCA4):c.1813-6_1813-4del	SMARCA4	Deletion (intron variant)	Rhabdoid tumor predisposition syndrome 2 +3 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 941221	NM_003072.5(SMARCA4):c.4570G>A (p.Asp1524Asn)	SMARCA4 (D1493N +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 937431	NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	SMARCA4 (R451C)	Single nucleotide variant (missense variant +1 more)	SMARCA4-related BAFopathy +3 more	GConflicting classifications of pathogenicity
Select item 858706	NM_003072.5(SMARCA4):c.529C>G (p.Leu177Val)	SMARCA4 (L177V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 849396	NM_003072.5(SMARCA4):c.4187C>T (p.Thr1396Met)	SMARCA4 (T1363M +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 845067	NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser)	SMARCA4 (A450S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 842386	NM_003072.5(SMARCA4):c.4171-1789C>T	SMARCA4 (Q1411*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 16 +1 more	GConflicting classifications of pathogenicity
Select item 839627	NM_003072.5(SMARCA4):c.2086G>A (p.Asp696Asn)	SMARCA4 (D696N)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GUncertain significance
Select item 834779	NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu)	SMARCA4 (P647L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GUncertain significance
Select item 827335	NM_003072.5(SMARCA4):c.791G>T (p.Gly264Val)	SMARCA4 (G264V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 827275	NM_003072.5(SMARCA4):c.782C>A (p.Pro261His)	SMARCA4 (P261H)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 827153	NM_003072.5(SMARCA4):c.761-2A>T	SMARCA4	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 826777	NM_003072.5(SMARCA4):c.701C>T (p.Pro234Leu)	SMARCA4 (P234L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 825328	NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg)	SMARCA4 (K1623R +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 825201	NM_003072.5(SMARCA4):c.4719G>C (p.Glu1573Asp)	SMARCA4 (E1540D +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 825169	NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His)	SMARCA4 (Q1531H +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 825057	NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His)	SMARCA4 (R1480H +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 825005	NM_003072.5(SMARCA4):c.4469C>T (p.Ser1490Leu)	SMARCA4 (S1460L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 824992	NM_003072.5(SMARCA4):c.4450G>A (p.Val1484Ile)	SMARCA4 (V1450I +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824943	NM_003072.5(SMARCA4):c.4402G>T (p.Ala1468Ser)	SMARCA4 (A1435S +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824932	NM_003072.5(SMARCA4):c.4392G>T (p.Lys1464Asn)	SMARCA4 (K1464N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824902	NM_003072.5(SMARCA4):c.4354T>C (p.Ser1452Pro)	SMARCA4 (S1452P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824846	NM_003072.5(SMARCA4):c.4286G>A (p.Arg1429His)	SMARCA4 (R1399H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 824829	NM_003072.5(SMARCA4):c.4267A>G (p.Thr1423Ala)	SMARCA4 (T1390A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824763	NM_003072.5(SMARCA4):c.4200C>G (p.Ile1400Met)	SMARCA4 (I1367M +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 824416	NM_003072.5(SMARCA4):c.3951+3A>G	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824413	NM_003072.5(SMARCA4):c.3947T>A (p.Phe1316Tyr)	SMARCA4 (F1316Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824307	NM_003072.5(SMARCA4):c.3855G>A (p.Leu1285=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 824300	NM_003072.5(SMARCA4):c.3850G>A (p.Asp1284Asn)	SMARCA4 (D1284N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 824252	NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr)	SMARCA4 (A1272T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 824190	NM_003072.5(SMARCA4):c.3774+4A>G	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824189	NM_003072.5(SMARCA4):c.3774+3G>C	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823643	NM_003072.5(SMARCA4):c.3349G>T (p.Ala1117Ser)	SMARCA4 (A1117S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823575	NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly)	SMARCA4 (S111G)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 823560	NM_003072.5(SMARCA4):c.3312A>G (p.Gln1104=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 823414	NM_003072.5(SMARCA4):c.3280G>A (p.Ala1094Thr)	SMARCA4 (A1094T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823390	NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln)	SMARCA4 (R1093Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823344	NM_003072.5(SMARCA4):c.958C>T (p.Pro320Ser)	SMARCA4 (P320S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823315	NM_003072.5(SMARCA4):c.3256G>A (p.Asp1086Asn)	SMARCA4 (D1086N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823280	NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 823059	NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)	SMARCA4 (M106V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 822633	NM_003072.5(SMARCA4):c.865A>T (p.Met289Leu)	SMARCA4 (M289L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 822601	NM_003072.5(SMARCA4):c.860-3C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 822582	NM_003072.5(SMARCA4):c.859+3G>A	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 822429	NM_003072.5(SMARCA4):c.2983G>A (p.Val995Ile)	SMARCA4 (V995I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 822366	NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp)	SMARCA4 (R99W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 822216	NM_003072.5(SMARCA4):c.1119-3C>T	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 820830	NM_003072.5(SMARCA4):c.2166G>A (p.Gln722=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GLikely benign
Select item 820701	NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)	SMARCA4 (V698I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820692	NM_003072.5(SMARCA4):c.2088T>A (p.Asp696Glu)	SMARCA4 (D696E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820319	NM_003072.5(SMARCA4):c.1909G>A (p.Gly637Arg)	SMARCA4 (G637R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820283	NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro)	SMARCA4 (A636P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820252	NM_003072.5(SMARCA4):c.1897_1898delinsAT (p.Ala633Ile)	SMARCA4 (A633I)	Indel (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 820150	NM_003072.5(SMARCA4):c.1836G>A (p.Met612Ile)	SMARCA4 (M612I)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 820121	NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val)	SMARCA4 (D607V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GUncertain significance
Select item 820079	NM_003072.5(SMARCA4):c.178G>A (p.Gly60Arg)	SMARCA4 (G60R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance

<< First< Prev

Page of 7