ClinVar for Gene (Select 114804) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314763	NM_052916.3(RNF157):c.739C>T (p.Leu247Phe)	RNF157 (L247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155130	NM_052916.3(RNF157):c.911C>T (p.Thr304Met)	RNF157 (T304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155129	NM_052916.3(RNF157):c.865A>G (p.Ile289Val)	RNF157 (I289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155128	NM_052916.3(RNF157):c.805G>A (p.Glu269Lys)	RNF157 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155127	NM_052916.3(RNF157):c.566G>T (p.Gly189Val)	RNF157 (G189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155126	NM_052916.3(RNF157):c.52C>A (p.Pro18Thr)	RNF157 (P18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3155124	NM_052916.3(RNF157):c.1681C>T (p.Pro561Ser)	RNF157 (P561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155123	NM_052916.3(RNF157):c.1106T>G (p.Leu369Arg)	RNF157 (L369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684857	GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3	EXOC7, FOXJ1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2623209	NM_052916.3(RNF157):c.666T>G (p.Phe222Leu)	RNF157 (F222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614883	NM_052916.3(RNF157):c.579C>A (p.Asp193Glu)	RNF157 (D193E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603062	NM_052916.3(RNF157):c.1747G>A (p.Gly583Arg)	RNF157 (G583R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
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 2479746	NM_052916.3(RNF157):c.532G>A (p.Val178Met)	LOC126862647, RNF157 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476337	NM_052916.3(RNF157):c.473C>T (p.Ser158Leu)	LOC126862647, RNF157 (S158L)	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 2471344	NM_052916.3(RNF157):c.1605G>A (p.Met535Ile)	RNF157 (M535I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463894	NM_052916.3(RNF157):c.784G>A (p.Asp262Asn)	RNF157 (D262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455424	NM_052916.3(RNF157):c.1005G>T (p.Leu335Phe)	RNF157 (L335F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409147	NM_052916.3(RNF157):c.1477T>C (p.Ser493Pro)	RNF157 (S493P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406683	NM_052916.3(RNF157):c.1099G>A (p.Val367Ile)	RNF157 (V367I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2355807	NM_052916.3(RNF157):c.1567G>A (p.Ala523Thr)	RNF157 (A523T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339176	NM_052916.3(RNF157):c.388G>A (p.Val130Ile)	LOC126862647, RNF157 (V130I)	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 2288837	NM_052916.3(RNF157):c.1352A>C (p.His451Pro)	RNF157 (H451P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288592	NM_052916.3(RNF157):c.692G>C (p.Cys231Ser)	RNF157 (C231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281204	NM_052916.3(RNF157):c.292G>A (p.Val98Ile)	RNF157 (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207836	NM_052916.3(RNF157):c.457G>C (p.Asp153His)	LOC126862647, RNF157 (D153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 791506	NM_052916.3(RNF157):c.1391C>T (p.Pro464Leu)	RNF157 (P464L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791204	NM_052916.3(RNF157):c.315G>A (p.Lys105=)	LOC126862647, RNF157	Single nucleotide variant (synonymous 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 728893	NM_052916.3(RNF157):c.1701G>T (p.Gly567=)	RNF157	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance
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	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50