PRRG4[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 3310600	NM_024081.6(PRRG4):c.16G>A (p.Val6Ile)	CCDC73, LOC130005485 +1 more (V6I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310599	NM_024081.6(PRRG4):c.61T>G (p.Cys21Gly)	LOC130005486, PRRG4 (C21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610967	NM_024081.6(PRRG4):c.85A>G (p.Lys29Glu)	LOC130005486, PRRG4 (K29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059407	NM_024081.6(PRRG4):c.97G>A (p.Glu33Lys)	PRRG4 (E33K)	Single nucleotide variant (missense variant)	PRRG4-related disorder	GBenign
Select item 3056859	NM_024081.6(PRRG4):c.103+8C>T	PRRG4	Single nucleotide variant (intron variant)	PRRG4-related disorder	GBenign
Select item 3310598	NM_024081.6(PRRG4):c.122A>C (p.Glu41Ala)	PRRG4 (E41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310596	NM_024081.6(PRRG4):c.187G>A (p.Gly63Ser)	PRRG4 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458039	NM_024081.6(PRRG4):c.218T>C (p.Leu73Pro)	PRRG4 (L73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280001	NM_024081.6(PRRG4):c.317A>G (p.Asp106Gly)	PRRG4 (D106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310597	NM_024081.6(PRRG4):c.366T>G (p.Ile122Met)	PRRG4 (I122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216959	NM_024081.6(PRRG4):c.428G>A (p.Cys143Tyr)	PRRG4 (C143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612191	NM_024081.6(PRRG4):c.433A>G (p.Arg145Gly)	PRRG4 (R145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040286	NM_024081.6(PRRG4):c.451T>A (p.Ser151Thr)	PRRG4 (S151T)	Single nucleotide variant (missense variant)	PRRG4-related disorder	GLikely benign
Select item 3040547	NM_024081.6(PRRG4):c.452C>A (p.Ser151Tyr)	PRRG4 (S151Y)	Single nucleotide variant (missense variant)	PRRG4-related disorder	GLikely benign
Select item 3056875	NM_024081.6(PRRG4):c.527C>A (p.Pro176Gln)	PRRG4 (P176Q)	Single nucleotide variant (missense variant)	PRRG4-related disorder	GBenign
Select item 3058902	NM_024081.6(PRRG4):c.534G>A (p.Pro178=)	PRRG4	Single nucleotide variant (synonymous variant)	PRRG4-related disorder	GBenign
Select item 2507966	NM_024081.6(PRRG4):c.550G>A (p.Ala184Thr)	PRRG4 (A184T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537327	NM_024081.6(PRRG4):c.661A>G (p.Met221Val)	PRRG4 (M221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219728	NM_024081.6(PRRG4):c.662T>C (p.Met221Thr)	PRRG4 (M221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 394752	GRCh37/hg19 11p13(chr11:32737546-32875486)x3	CCDC73, PRRG4	Copy number gain	See cases	GLikely benign
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 40