ClinVar for Gene (Select 100507218) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155125	NM_052916.3(RNF157):c.1802C>T (p.Thr601Met)	RNF157, RNF157-AS1 (T579M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553234	NM_052916.3(RNF157):c.1773T>A (p.Asp591Glu)	RNF157, RNF157-AS1 (D569E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2532669	NM_052916.3(RNF157):c.2006C>T (p.Thr669Met)	RNF157, RNF157-AS1 (T647M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472321	NM_052916.3(RNF157):c.1946C>T (p.Ala649Val)	RNF157, RNF157-AS1 (A649V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358922	NM_052916.3(RNF157):c.1913G>A (p.Cys638Tyr)	RNF157, RNF157-AS1 (C638Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302501	NM_052916.3(RNF157):c.2000C>G (p.Ser667Cys)	RNF157, RNF157-AS1 (S645C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236044	NM_001454.4(FOXJ1):c.-169-173G>C	FOXJ1, RNF157-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790187	NM_052916.3(RNF157):c.1821G>T (p.Thr607=)	RNF157, RNF157-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic