ClinVar for Gene (Select 55905) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314683	NM_018683.4(RNF114):c.554A>C (p.Asn185Thr)	RNF114 (N185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154962	NM_018683.4(RNF114):c.68C>T (p.Pro23Leu)	RNF114 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154960	NM_018683.4(RNF114):c.302C>G (p.Ser101Cys)	RNF114 (S101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154959	NM_018683.4(RNF114):c.15G>C (p.Gln5His)	RNF114 (Q5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652393	NM_018683.4(RNF114):c.560G>A (p.Arg187His)	RNF114 (R187H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2568433	NM_018683.4(RNF114):c.184C>G (p.Pro62Ala)	RNF114 (P62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488976	NM_018683.4(RNF114):c.565G>A (p.Ala189Thr)	RNF114 (A189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472695	NM_018683.4(RNF114):c.590G>A (p.Arg197His)	RNF114 (R197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455773	NM_018683.4(RNF114):c.599G>A (p.Arg200Gln)	RNF114 (R200Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309933	NM_018683.4(RNF114):c.651G>A (p.Met217Ile)	RNF114 (M217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301041	NM_018683.4(RNF114):c.667C>T (p.Arg223Cys)	RNF114 (R223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278881	NM_018683.4(RNF114):c.245G>T (p.Arg82Leu)	RNF114 (R82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204656	NM_018683.4(RNF114):c.43G>A (p.Ala15Thr)	RNF114 (A15T)	Single nucleotide variant (missense variant)	not specified	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 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 688025	GRCh37/hg19 20q13.13(chr20:48023123-48581111)x1	B4GALT5, KCNB1 +4 more	Copy number loss	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
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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 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

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Links from Gene

Items: 26