PCBP4[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2560245	NM_001174100.2(PCBP4):c.1165G>A (p.Ala389Thr)	PCBP4 (A346T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228973	NM_001174100.2(PCBP4):c.1148C>T (p.Thr383Ile)	PCBP4 (T340I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304531	NM_001174100.2(PCBP4):c.1133G>C (p.Gly378Ala)	PCBP4 (G335A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784600	NM_001174100.2(PCBP4):c.1114T>G (p.Ser372Ala)	PCBP4 (S372A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3304530	NM_001174100.2(PCBP4):c.1078C>T (p.Leu360Phe)	PCBP4 (L317F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209071	NM_001174100.2(PCBP4):c.1045C>T (p.Pro349Ser)	PCBP4 (P349S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306919	NM_001174100.2(PCBP4):c.1039G>A (p.Gly347Ser)	PCBP4 (G347S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222890	NM_001174100.2(PCBP4):c.1015C>T (p.Pro339Ser)	PCBP4 (P339S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326650	NM_001174100.2(PCBP4):c.907T>C (p.Tyr303His)	PCBP4 (Y303H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318633	NM_001174100.2(PCBP4):c.905A>T (p.Gln302Leu)	PCBP4 (Q302L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304532	NM_001174100.2(PCBP4):c.844G>A (p.Glu282Lys)	PCBP4 (E239K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489436	NM_001174100.2(PCBP4):c.776G>A (p.Arg259His)	PCBP4 (R259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243745	NM_001174100.2(PCBP4):c.668C>T (p.Ala223Val)	PCBP4 (A180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209079	NM_001174100.2(PCBP4):c.638T>G (p.Val213Gly)	PCBP4 (V213G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261269	NM_001174100.2(PCBP4):c.612G>T (p.Gln204His)	PCBP4 (Q204H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319007	NM_001174100.2(PCBP4):c.503C>T (p.Ala168Val)	PCBP4 (A168V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209078	NM_001174100.2(PCBP4):c.452C>T (p.Thr151Met)	PCBP4 (T151M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209077	NM_001174100.2(PCBP4):c.307A>G (p.Thr103Ala)	PCBP4 (T103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232705	NM_001174100.2(PCBP4):c.297G>C (p.Arg99Ser)	PCBP4 (R99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209076	NM_001174100.2(PCBP4):c.286A>G (p.Asn96Asp)	PCBP4 (N96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209075	NM_001174100.2(PCBP4):c.199G>A (p.Gly67Arg)	PCBP4 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304529	NM_001174100.2(PCBP4):c.182G>A (p.Arg61His)	PCBP4 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209073	NM_001174100.2(PCBP4):c.175C>T (p.Pro59Ser)	PCBP4 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209072	NM_001174100.2(PCBP4):c.155C>A (p.Thr52Asn)	PCBP4 (T52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318815	NM_001174100.2(PCBP4):c.62G>A (p.Arg21Gln)	PCBP4 (R21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300521	NM_001174100.2(PCBP4):c.23T>C (p.Leu8Pro)	PCBP4 (L8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 34