ZPLD1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 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 +398 more	Copy number loss	See cases	GPathogenic
Select item 3199249	NM_001329788.2(ZPLD1):c.3G>A (p.Met1Ile)	ZPLD1 (M17I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3199248	NM_001329788.2(ZPLD1):c.310T>C (p.Cys104Arg)	ZPLD1 (C104R +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 3199250	NM_001329788.2(ZPLD1):c.737A>G (p.Asp246Gly)	ZPLD1 (D262G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199251	NM_001329788.2(ZPLD1):c.752T>C (p.Leu251Pro)	ZPLD1 (L251P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199252	NM_001329788.2(ZPLD1):c.762C>T (p.Ser254=)	ZPLD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3259999	NM_001329788.2(ZPLD1):c.812G>A (p.Arg271Gln)	ZPLD1 (R271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3199253	NM_001329788.2(ZPLD1):c.920C>A (p.Pro307His)	ZPLD1 (P323H +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 3199246	NM_001329788.2(ZPLD1):c.974C>T (p.Thr325Met)	ZPLD1 (T325M +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 3199247	NM_001329788.2(ZPLD1):c.1051C>G (p.Pro351Ala)	ZPLD1 (P367A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	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: 38