PEDS1[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 2524882	NM_199129.4(PEDS1):c.761C>T (p.Thr254Met)	PEDS1, PEDS1-UBE2V1 (T251M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211321	NM_199129.4(PEDS1):c.734G>A (p.Arg245His)	PEDS1, PEDS1-UBE2V1 (R242H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3233344	NM_199129.4(PEDS1):c.104del (p.Ala35fs)	LOC130066127, PEDS1 +1 more (A35fs)	Deletion (frameshift variant +1 more)	See cases	GUncertain significance
Select item 1807864	GRCh37/hg19 20q13.13(chr20:48352572-48766664)x3	PEDS1, PEDS1-UBE2V1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic