6597[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 679713	NM_001128849.1(SMARCA4):c.-322G>T	LOC130063547, SMARCA4	Single nucleotide variant	not provided	GBenign
Select item 328015	NM_003072.5(SMARCA4):c.-72C>T	LOC130063547, SMARCA4	Single nucleotide variant (5 prime UTR variant +1 more)	Coffin-Siris syndrome	GLikely benign
Select item 328016	NM_003072.5(SMARCA4):c.-43C>T	LOC130063547, SMARCA4	Single nucleotide variant (5 prime UTR variant +1 more)	Coffin-Siris syndrome +1 more	GLikely benign
Select item 328017	NM_003072.5(SMARCA4):c.-32+11C>T	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome	GUncertain significance
Select item 1694888	NM_003072.5(SMARCA4):c.-32+29C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 803520	NM_003072.5(SMARCA4):c.-32+34C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 1219538	NM_003072.5(SMARCA4):c.-32+68G>A	LOC130063548, SMARCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177702	NM_003072.5(SMARCA4):c.-31-206C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315479	NM_003072.5(SMARCA4):c.-31-8T>G	SMARCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1692587	NM_003072.5(SMARCA4):c.-31-6T>C	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 417442	NC_000019.10:g.(?_10984121)_(11062282_?)del	LOC130063552, LOC130063553 +3 more	Deletion	Rhabdoid tumor predisposition syndrome 2	GPathogenic
Select item 583852	NC_000019.9:g.(?_11094818)_(11107066_?)dup	SMARCA4	Duplication	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 826123	NM_003072.5(SMARCA4):c.-5T>G	SMARCA4	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1321949	NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile)	SMARCA4 (M1I)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 515019	NM_003072.5(SMARCA4):c.6C>T (p.Ser2=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2133432	NM_003072.5(SMARCA4):c.7A>G (p.Thr3Ala)	SMARCA4 (T3A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 661210	NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro)	SMARCA4 (T3P)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 1719461	NM_003072.5(SMARCA4):c.8C>A (p.Thr3Asn)	SMARCA4 (T3N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1500930	NM_003072.5(SMARCA4):c.8C>T (p.Thr3Ile)	SMARCA4 (T3I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823602	NM_003072.5(SMARCA4):c.9T>C (p.Thr3=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1024149	NM_003072.5(SMARCA4):c.10C>G (p.Pro4Ala)	SMARCA4 (P4A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 850739	NM_003072.5(SMARCA4):c.10C>T (p.Pro4Ser)	SMARCA4 (P4S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1747025	NM_003072.5(SMARCA4):c.11C>A (p.Pro4Gln)	SMARCA4 (P4Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452878	NM_003072.5(SMARCA4):c.12A>C (p.Pro4=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1771771	NM_003072.5(SMARCA4):c.13G>C (p.Asp5His)	SMARCA4 (D5H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1111539	NM_003072.5(SMARCA4):c.15C>T (p.Asp5=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 961139	NM_003072.5(SMARCA4):c.17C>A (p.Pro6Gln)	SMARCA4 (P6Q)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2587128	NM_003072.5(SMARCA4):c.18A>G (p.Pro6=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2854954	NM_003072.5(SMARCA4):c.19C>G (p.Pro7Ala)	SMARCA4 (P7A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 1472646	NM_003072.5(SMARCA4):c.19C>A (p.Pro7Thr)	SMARCA4 (P7T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1056574	NM_003072.5(SMARCA4):c.20C>G (p.Pro7Arg)	SMARCA4 (P7R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 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 1787591	NM_003072.5(SMARCA4):c.21C>T (p.Pro7=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1145632	NM_003072.5(SMARCA4):c.21C>G (p.Pro7=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 1789254	NM_003072.5(SMARCA4):c.22C>A (p.Leu8Met)	SMARCA4 (L8M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 470300	NM_003072.5(SMARCA4):c.22C>T (p.Leu8=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1103515	NM_003072.5(SMARCA4):c.24G>T (p.Leu8=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 486475	NM_003072.5(SMARCA4):c.24G>C (p.Leu8=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 588407	NM_003072.5(SMARCA4):c.25G>A (p.Gly9Ser)	SMARCA4 (G9S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1406146	NM_003072.5(SMARCA4):c.26G>A (p.Gly9Asp)	SMARCA4 (G9D)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 1796170	NM_003072.5(SMARCA4):c.27C>G (p.Gly9=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 754894	NM_003072.5(SMARCA4):c.27C>A (p.Gly9=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 238415	NM_003072.5(SMARCA4):c.27C>T (p.Gly9=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
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	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 2843740	NM_003072.5(SMARCA4):c.33_51del (p.Pro12fs)	SMARCA4 (P12fs)	Deletion (frameshift variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GPathogenic
Select item 643858	NM_003072.5(SMARCA4):c.32C>G (p.Thr11Ser)	SMARCA4 (T11S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 575086	NM_003072.5(SMARCA4):c.32C>T (p.Thr11Ile)	SMARCA4 (T11I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2897533	NM_003072.5(SMARCA4):c.33T>A (p.Thr11=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 470349	NM_003072.5(SMARCA4):c.33T>C (p.Thr11=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 1732050	NM_003072.5(SMARCA4):c.34C>T (p.Pro12Ser)	SMARCA4 (P12S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2755837	NM_003072.5(SMARCA4):c.35C>A (p.Pro12His)	SMARCA4 (P12H)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 484944	NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu)	SMARCA4 (P12L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1082929	NM_003072.5(SMARCA4):c.36T>C (p.Pro12=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 639344	NM_003072.5(SMARCA4):c.37C>A (p.Arg13=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 566409	NM_003072.5(SMARCA4):c.37C>T (p.Arg13Trp)	SMARCA4 (R13W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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 1736007	NM_003072.5(SMARCA4):c.38G>C (p.Arg13Pro)	SMARCA4 (R13P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	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 +2 more	GConflicting classifications of pathogenicity
Select item 1736885	NM_003072.5(SMARCA4):c.39G>T (p.Arg13=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1528738	NM_003072.5(SMARCA4):c.39G>A (p.Arg13=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1060182	NM_003072.5(SMARCA4):c.40_41delinsGA (p.Pro14Glu)	SMARCA4 (P14E)	Indel (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 566333	NM_003072.5(SMARCA4):c.40C>A (p.Pro14Thr)	SMARCA4 (P14T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2127070	NM_003072.5(SMARCA4):c.42A>C (p.Pro14=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 824767	NM_003072.5(SMARCA4):c.42A>G (p.Pro14=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2846144	NM_003072.5(SMARCA4):c.43G>A (p.Gly15Ser)	SMARCA4 (G15S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 1741038	NM_003072.5(SMARCA4):c.44G>A (p.Gly15Asp)	SMARCA4 (G15D)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 824949	NM_003072.5(SMARCA4):c.44G>C (p.Gly15Ala)	SMARCA4 (G15A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 408637	NM_003072.5(SMARCA4):c.44G>T (p.Gly15Val)	SMARCA4 (G15V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2771701	NM_003072.5(SMARCA4):c.45T>A (p.Gly15=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2776249	NM_003072.5(SMARCA4):c.54_71del (p.14PGPSPG[1])	SMARCA4	Deletion (inframe_deletion +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 1743178	NM_003072.5(SMARCA4):c.47C>G (p.Pro16Arg)	SMARCA4 (P16R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GUncertain significance
Select item 954832	NM_003072.5(SMARCA4):c.50C>T (p.Ser17Phe)	SMARCA4 (S17F)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 1746010	NM_003072.5(SMARCA4):c.51C>A (p.Ser17=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 762695	NM_003072.5(SMARCA4):c.51C>G (p.Ser17=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 470436	NM_003072.5(SMARCA4):c.51C>T (p.Ser17=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 408656	NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)	SMARCA4 (P18L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1614804	NM_003072.5(SMARCA4):c.54G>C (p.Pro18=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 238505	NM_003072.5(SMARCA4):c.54G>A (p.Pro18=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 3233137	NM_003072.5(SMARCA4):c.55G>C (p.Gly19Arg)	SMARCA4 (G19R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2587130	NM_003072.5(SMARCA4):c.56G>T (p.Gly19Val)	SMARCA4 (G19V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1415376	NM_003072.5(SMARCA4):c.56G>C (p.Gly19Ala)	SMARCA4 (G19A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 1633458	NM_003072.5(SMARCA4):c.57C>G (p.Gly19=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 1531661	NM_003072.5(SMARCA4):c.57C>T (p.Gly19=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 2858055	NM_003072.5(SMARCA4):c.63C>G (p.Gly21=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 1099261	NM_003072.5(SMARCA4):c.63C>T (p.Gly21=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 2000876	NM_003072.5(SMARCA4):c.64C>G (p.Pro22Ala)	SMARCA4 (P22A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 835414	NM_003072.5(SMARCA4):c.64C>T (p.Pro22Ser)	SMARCA4 (P22S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 537799	NM_003072.5(SMARCA4):c.65C>A (p.Pro22His)	SMARCA4 (P22H)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +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 470444	NM_003072.5(SMARCA4):c.65C>G (p.Pro22Arg)	SMARCA4 (P22R)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 1585089	NM_003072.5(SMARCA4):c.66T>C (p.Pro22=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 1472192	NM_003072.5(SMARCA4):c.68C>T (p.Ser23Phe)	SMARCA4 (S23F)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 840214	NM_003072.5(SMARCA4):c.68C>G (p.Ser23Cys)	SMARCA4 (S23C)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 484950	NM_003072.5(SMARCA4):c.68C>A (p.Ser23Tyr)	SMARCA4 (S23Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1129803	NM_003072.5(SMARCA4):c.69C>G (p.Ser23=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign

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