Related gene-specific medical variations for Gene (Select 2719) - ClinVar

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Items: 23

	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 3062560	GRCh37/hg19 Xq26.2(chrX:132833618-132969000)	GPC3	Copy number loss	not specified	GPathogenic
Select item 2685155	GRCh37/hg19 Xq26.2(chrX:132554646-132787377)x0	GPC3	Copy number loss	not provided	GPathogenic
Select item 2685012	GRCh37/hg19 Xq26.2(chrX:133068897-133292237)x3	GPC3	Copy number gain	not provided	GUncertain significance
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 1808618	GRCh37/hg19 Xq26.2(chrX:132879202-132956033)x0	GPC3	Copy number loss	not provided	GPathogenic
Select item 1703564	GRCh37/hg19 Xq26.2(chrX:132703748-132794615)	GPC3	Copy number loss	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
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 997060	GRCh37/hg19 Xq26.2(chrX:132717085-132924462)	GPC3	Copy number loss	Global developmental delay	GPathogenic
Select item 994887	NM_004484.4(GPC3):c.62C>G (p.Pro21Arg)	GPC3 (P21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930761	NM_004484.4(GPC3):c.737T>C (p.Leu246Pro)	GPC3 (L230P +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 592000	NM_004484.4(GPC3):c.338-1G>T	GPC3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 442978	GRCh37/hg19 Xq26.2(chrX:132736301-132738277)x0	GPC3	Copy number loss	See cases	GUncertain significance
Select item 394480	GRCh37/hg19 Xq26.2(chrX:132717903-133097197)x2	GPC3	Copy number gain	See cases	GUncertain significance
Select item 259406	NM_004484.4(GPC3):c.176-40G>C	GPC3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 239938	NM_004484.3(GPC3):c.1574-?_*379+?del	GPC3	Deletion	Wilms tumor 1	GPathogenic
Select item 239932	NM_004484.3(GPC3):c.-197-?_*379+?dup	GPC3	Duplication	Wilms tumor 1	GUncertain significance
Select item 224615	GRCh37/hg19 Xq26.2(chrX:132834006-132986815)	GPC3	Copy number loss	Simpson-Golabi-Behmel syndrome type 1	GPathogenic
Select item 149567	GRCh38/hg38 Xq26.2(chrX:133531315-133536007)x1	GPC3	Copy number loss	See cases	GLikely benign
Select item 11686	NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)	GPC3	Deletion	Simpson-Golabi-Behmel syndrome type 1	GPathogenic

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Links from Gene

Items: 23