"Ambry Genetics"[submitter] AND "GPC4"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2492308	NM_001448.3(GPC4):c.1598G>A (p.Arg533His)	GPC4 (R533H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515993	NM_001448.3(GPC4):c.1561A>G (p.Lys521Glu)	GPC4 (K521E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 521495	NM_001448.3(GPC4):c.1463A>G (p.Asp488Gly)	GPC4 (D488G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282124	NM_001448.3(GPC4):c.1439A>G (p.Asn480Ser)	GPC4 (N480S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101252	NM_001448.3(GPC4):c.1228G>A (p.Asp410Asn)	GPC4 (D410N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101251	NM_001448.3(GPC4):c.1219G>A (p.Val407Ile)	GPC4 (V407I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282122	NM_001448.3(GPC4):c.1211C>T (p.Pro404Leu)	GPC4 (P404L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101250	NM_001448.3(GPC4):c.1084A>G (p.Ser362Gly)	GPC4 (S362G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282120	NM_001448.3(GPC4):c.895G>A (p.Ala299Thr)	GPC4 (A299T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371817	NM_001448.3(GPC4):c.853G>A (p.Asp285Asn)	GPC4 (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382627	NM_001448.3(GPC4):c.776G>A (p.Gly259Asp)	GPC4 (G259D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207911	NM_001448.3(GPC4):c.773G>A (p.Arg258Gln)	GPC4 (R258Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1049330	NM_001448.3(GPC4):c.772C>T (p.Arg258Trp)	GPC4 (R258W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602846	NM_001448.3(GPC4):c.668A>G (p.Gln223Arg)	GPC4 (Q223R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101254	NM_001448.3(GPC4):c.583G>A (p.Glu195Lys)	GPC4 (E195K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220672	NM_001448.3(GPC4):c.452T>G (p.Val151Gly)	GPC4 (V151G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282121	NM_001448.3(GPC4):c.451G>A (p.Val151Met)	GPC4 (V151M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216672	NM_001448.3(GPC4):c.275A>G (p.Asn92Ser)	GPC4 (N92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101253	NM_001448.3(GPC4):c.219G>C (p.Glu73Asp)	GPC4 (E73D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2661467	NM_001448.3(GPC4):c.205C>G (p.Gln69Glu)	GPC4 (Q69E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3282123	NM_001448.3(GPC4):c.77A>G (p.Lys26Arg)	GPC4 (K26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700694	NM_001448.3(GPC4):c.76A>G (p.Lys26Glu)	GPC4 (K26E)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance

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Items: 23