ClinVar for MedGen (Select 162917) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064931	NM_004484.4(GPC3):c.780G>A (p.Trp260Ter)	GPC3 (W206* +2 more)	Single nucleotide variant (nonsense)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 2637906	NM_004484.4(GPC3):c.190del (p.Val64fs)	GPC3 (V64fs)	Deletion (frameshift variant +1 more)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 2432240	NM_004484.4(GPC3):c.1293-10A>G	GPC3	Single nucleotide variant (intron variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 2432239	NM_004484.4(GPC3):c.553C>T (p.Pro185Ser)	GPC3 (P131S +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 1712296	NC_000023.10:g.(133030929_133031380)_(133079087_133079463)delins(118528009_118528409)_(118674690_118675082)	GPC3	Indel	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 1709306	NM_004484.4(GPC3):c.1736_1737del (p.Val579fs)	GPC3 (V525fs +3 more)	Deletion (frameshift variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 1707556	NM_004484.4(GPC3):c.280del (p.Gln94fs)	GPC3 (Q94fs)	Deletion (frameshift variant +1 more)	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 1703564	GRCh37/hg19 Xq26.2(chrX:132703748-132794615)	GPC3	Copy number loss	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 1699090	NM_004484.4(GPC3):c.695C>A (p.Ala232Asp)	GPC3 (A178D +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 1698894	NM_004484.4(GPC3):c.1413+1G>C	GPC3	Single nucleotide variant (splice donor variant)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 1693307	NM_004484.4(GPC3):c.1645A>G (p.Ile549Val)	GPC3 (I495V +3 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GUncertain significance
Select item 1692814	NM_004484.4(GPC3):c.338-6_338-5dup	GPC3	Duplication (intron variant)	GPC3-related condition +3 more	GBenign/Likely benign
Select item 1663423	NM_004484.4(GPC3):c.175+12T>G	GPC3	Single nucleotide variant (intron variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GLikely benign
Select item 1590763	NM_004484.4(GPC3):c.450A>G (p.Thr150=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1 +1 more	GLikely benign
Select item 1527952	NM_004484.4(GPC3):c.505G>T (p.Glu169Ter)	GPC3 (E115* +2 more)	Single nucleotide variant (nonsense)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 1338839	GRCh38/hg38 Xq26.2(chrX:133658037-133915611)	GPC3, GPC3-AS1 +2 more	Copy number gain	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 1333337	NM_004484.4(GPC3):c.271del (p.Gln91fs)	GPC3 (Q91fs)	Deletion (frameshift variant +1 more)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1327076	NM_004484.4(GPC3):c.467T>A (p.Ile156Asn)	GPC3 (I102N +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 1324504	NM_004484.4(GPC3):c.1167-1G>A	GPC3	Single nucleotide variant (splice acceptor variant)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 1264219	NM_001448.3(GPC4):c.320-15del	GPC4	Deletion (intron variant)	Wilms tumor 1 +3 more	GBenign
Select item 1103639	NM_004484.4(GPC3):c.696T>C (p.Ala232=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1 +1 more	GLikely benign
Select item 1080524	NM_004484.4(GPC3):c.918T>C (p.Leu306=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1 +1 more	GLikely benign
Select item 1054925	NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys)	GPC3 (Y303C +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +2 more	GUncertain significance
Select item 1039655	NM_004484.4(GPC3):c.118T>C (p.Ser40Pro)	GPC3 (S40P)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GUncertain significance
Select item 1028766	NM_004484.4(GPC3):c.-1G>C	GPC3	Single nucleotide variant (5 prime UTR variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 1027392	NM_004484.4(GPC3):c.175+1G>T	GPC3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1016304	NM_004484.4(GPC3):c.1292+6C>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 1003335	NM_004484.4(GPC3):c.865G>A (p.Val289Met)	GPC3 (V235M +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 1000238	NM_004484.4(GPC3):c.1051C>T (p.His351Tyr)	GPC3 (H297Y +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 997494	NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)	GPC3 (N493S +3 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GUncertain significance
Select item 959164	NM_004484.4(GPC3):c.1045T>C (p.Cys349Arg)	GPC3 (C349R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 939767	NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala)	GPC3 (D431A +3 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GUncertain significance
Select item 939060	NM_004484.4(GPC3):c.115C>T (p.Arg39Cys)	GPC3 (R39C)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 860300	NM_004484.4(GPC3):c.140C>T (p.Pro47Leu)	GPC3 (P47L)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 855265	NM_004484.4(GPC3):c.1562G>A (p.Arg521His)	GPC3 (R505H +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 849942	NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)	GPC3 (Q266R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 761308	NM_004484.4(GPC3):c.1698C>T (p.Thr566=)	GPC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 698976	NM_004484.4(GPC3):c.338-7_338-5del	GPC3	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 695314	NM_004484.4(GPC3):c.338-20dup	GPC3	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 625800	GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)	STK26, TFDP3 +9 more	Copy number loss	Nystagmus 1, congenital, X-linked +1 more	GPathogenic
Select item 619996	NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)	MED12 (L675F)	Single nucleotide variant (missense variant)	Wilms tumor 1 +4 more	GUncertain significance
Select item 617901	NM_004484.4(GPC3):c.1494C>A (p.Cys498Ter)	GPC3 (C498* +3 more)	Single nucleotide variant (nonsense)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 589096	NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)	GPC3 (Q426R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +2 more	GUncertain significance
Select item 575501	NM_004484.4(GPC3):c.913G>A (p.Glu305Lys)	GPC3 (E305K +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 562012	NM_004484.4(GPC3):c.974C>A (p.Ser325Ter)	GPC3 (S325* +2 more)	Single nucleotide variant (nonsense)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 543089	NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro)	GPC3 (L523P +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 476656	NM_004484.4(GPC3):c.485A>G (p.Asn162Ser)	GPC3 (N162S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 476646	NM_004484.4(GPC3):c.1296C>T (p.Tyr432=)	GPC3	Single nucleotide variant (synonymous variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GLikely benign
Select item 415277	NM_004484.4(GPC3):c.516C>T (p.Asp172=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1 +1 more	GLikely benign
Select item 415275	NM_004484.4(GPC3):c.1032+9C>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1 +1 more	GBenign/Likely benign
Select item 415272	NM_004484.4(GPC3):c.204G>A (p.Lys68=)	GPC3	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 266113	NM_004484.4(GPC3):c.1692del (p.Leu565fs)	GPC3 (L511fs +3 more)	Deletion (frameshift variant)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 259405	NM_004484.4(GPC3):c.1500T>C (p.Asp500=)	GPC3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 239947	NM_004484.4(GPC3):c.972T>C (p.Phe324=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1 +3 more	GBenign/Likely benign
Select item 239944	NM_004484.4(GPC3):c.648G>C (p.Met216Ile)	GPC3 (M216I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 239940	NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu)	GPC3 (P544L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 239935	NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile)	GPC3 (S411I +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +4 more	GBenign/Likely benign
Select item 224615	GRCh37/hg19 Xq26.2(chrX:132834006-132986815)	GPC3	Copy number loss	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 218527	NM_004484.4(GPC3):c.338-5del	GPC3	Deletion (intron variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 137490	NM_004484.4(GPC3):c.1626A>G (p.Ala542=)	GPC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 134501	NM_004484.4(GPC3):c.1285G>A (p.Val429Met)	GPC3 (V429M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 134500	NM_004484.4(GPC3):c.358C>T (p.Arg120Cys)	GPC3 (R120C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 11695	NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg)	GPC3 (G556R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 11694	NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)	GPC3 (R387* +3 more)	Single nucleotide variant (nonsense)	Wilms tumor 1 +2 more	GPathogenic
Select item 11693	NM_004484.4(GPC3):c.337+1G>A	GPC3	Single nucleotide variant (intron variant +1 more)	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 11692	NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del	GPC3	Deletion	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 11689	NM_004484.4(GPC3):c.595C>T (p.Arg199Ter)	GPC3 (R199* +2 more)	Single nucleotide variant (nonsense)	Wilms tumor 1 +1 more	GPathogenic
Select item 11688	NM_004484.4(GPC3):c.1292+1G>T	GPC3	Single nucleotide variant (splice donor variant)	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 11687	NM_004484.4(GPC3):c.886T>A (p.Trp296Arg)	GPC3 (W296R +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 11686	NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)	GPC3	Deletion	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 11685	NM_004484.4(GPC3):c.194_206del (p.Cys65fs)	GPC3 (C65fs)	Deletion (frameshift variant +1 more)	Simpson-Golabi-Behmel syndrome type 1	GPathogenic

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Items: 71