ZPLD1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 2526404	NM_001329788.2(ZPLD1):c.67G>A (p.Gly23Ser)	ZPLD1 (G39S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468012	NM_001329788.2(ZPLD1):c.121A>G (p.Ser41Gly)	ZPLD1 (S41G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622449	NM_001329788.2(ZPLD1):c.383G>A (p.Gly128Glu)	ZPLD1 (G144E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297066	NM_001329788.2(ZPLD1):c.418C>T (p.Pro140Ser)	ZPLD1 (P140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294541	NM_001329788.2(ZPLD1):c.497C>A (p.Thr166Asn)	ZPLD1 (T166N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216608	NM_001329788.2(ZPLD1):c.715C>T (p.Pro239Ser)	ZPLD1 (P255S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545117	NM_001329788.2(ZPLD1):c.860A>G (p.Gln287Arg)	ZPLD1 (Q303R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329935	NM_001329788.2(ZPLD1):c.938G>A (p.Cys313Tyr)	ZPLD1 (C313Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206071	NM_001329788.2(ZPLD1):c.1007C>G (p.Ala336Gly)	ZPLD1 (A352G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782809	NM_001329788.2(ZPLD1):c.1043-9T>A	ZPLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2317621	NM_001329788.2(ZPLD1):c.1073G>T (p.Gly358Val)	ZPLD1 (G358V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254485	NM_001329788.2(ZPLD1):c.1099C>G (p.Leu367Val)	ZPLD1 (L367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341677	NM_001329788.2(ZPLD1):c.1198G>C (p.Gly400Arg)	ZPLD1 (G416R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607682	NM_001329788.2(ZPLD1):c.1235C>G (p.Pro412Arg)	ZPLD1 (P428R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527034	GRCh37/hg19 3q12.3-13.11(chr3:102025967-103468070)	ZPLD1	Copy number gain	not specified	GUncertain significance
Select item 1340214	GRCh37/hg19 3q12.3(chr3:101892890-102296491)x1	ZPLD1	Copy number loss	not provided	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 686856	GRCh37/hg19 3q12.3(chr3:102129345-102201538)x1	ZPLD1	Copy number loss	not provided	GUncertain significance
Select item 562797	GRCh37/hg19 3q12.3(chr3:102078343-102293262)x1	ZPLD1	Copy number loss	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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: 29