"GeneDx"[submitter] AND "GPC4"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 1704775	NM_001448.3(GPC4):c.1555G>T (p.Ala519Ser)	GPC4 (A519S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2381436	NM_001448.3(GPC4):c.1541A>G (p.Asn514Ser)	GPC4 (N514S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2662076	NM_001448.3(GPC4):c.1490G>T (p.Gly497Val)	GPC4 (G497V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576734	NM_001448.3(GPC4):c.1412T>C (p.Met471Thr)	GPC4 (M471T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579755	NM_001448.3(GPC4):c.1352A>G (p.Gln451Arg)	GPC4 (Q451R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373433	NM_001448.3(GPC4):c.1342C>T (p.Pro448Ser)	GPC4 (P448S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285303	NM_001448.3(GPC4):c.1325C>T (p.Ala442Val)	GPC4 (A442V)	Single nucleotide variant (missense variant)	Keipert syndrome +1 more	GBenign
Select item 2581802	NM_001448.3(GPC4):c.1276G>A (p.Gly426Arg)	GPC4 (G426R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373493	NM_001448.3(GPC4):c.1223G>A (p.Cys408Tyr)	GPC4 (C408Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573754	NM_001448.3(GPC4):c.1216A>G (p.Asn406Asp)	GPC4 (N406D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278651	NM_001448.3(GPC4):c.1173G>T (p.Glu391Asp)	GPC4 (E391D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3363593	NM_001448.3(GPC4):c.1132G>T (p.Ala378Ser)	GPC4 (A378S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628071	NM_001448.3(GPC4):c.1051C>T (p.Arg351Ter)	GPC4 (R351*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2579810	NM_001448.3(GPC4):c.1022G>A (p.Cys341Tyr)	GPC4 (C341Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343322	NM_001448.3(GPC4):c.967A>G (p.Ile323Val)	GPC4 (I323V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501615	NM_001448.3(GPC4):c.922A>G (p.Ile308Val)	GPC4 (I308V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575746	NM_001448.3(GPC4):c.847G>T (p.Asp283Tyr)	GPC4 (D283Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230423	NM_001448.3(GPC4):c.712-293T>A	GPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662536	NM_001448.3(GPC4):c.578A>T (p.Tyr193Phe)	GPC4 (Y193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364588	NM_001448.3(GPC4):c.341A>C (p.Glu114Ala)	GPC4 (E114A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368348	NM_001448.3(GPC4):c.335T>G (p.Leu112Arg)	GPC4 (L112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264219	NM_001448.3(GPC4):c.320-15del	GPC4	Deletion (intron variant)	Wilms tumor 1 +3 more	GBenign
Select item 1253508	NM_001448.3(GPC4):c.320-16_320-15del	GPC4	Deletion (intron variant)	not provided	GBenign
Select item 1183787	NM_001448.3(GPC4):c.161-276T>C	GPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183385	NM_001448.3(GPC4):c.160+96A>G	GPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237958	NM_001448.3(GPC4):c.-20C>T	GPC4	Single nucleotide variant (5 prime UTR variant)	Keipert syndrome +1 more	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253532	GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0	IGSF1, TFDP3 +11 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253469	GRCh37/hg19 Xq26.1-26.2(chrX:129796796-132686500)x0	GPC3, ENOX2 +11 more	Copy number loss	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3359700	NM_001448.3(GPC4):c.1549G>A (p.Asp517Asn)	GPC4 (D517N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 47