Related gene-specific medical variations for Gene (Select 57232) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258987	NM_001282201.2(ZNF630):c.1570T>A (p.Phe524Ile)	ZNF630, ZNF630-AS1 (F400I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258986	NM_001282201.2(ZNF630):c.54G>A (p.Thr18=)	ZNF630, ZNF630-AS1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3258985	NM_001282201.2(ZNF630):c.101G>A (p.Arg34Lys)	ZNF630, ZNF630-AS1 (R20K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258984	NM_001282201.2(ZNF630):c.1967T>C (p.Ile656Thr)	ZNF630, ZNF630-AS1 (I532T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197355	NM_001282201.2(ZNF630):c.959A>T (p.Glu320Val)	ZNF630, ZNF630-AS1 (E196V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197354	NM_001282201.2(ZNF630):c.1532G>A (p.Gly511Glu)	ZNF630, ZNF630-AS1 (G387E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197353	NM_001282201.2(ZNF630):c.1471G>C (p.Glu491Gln)	ZNF630, ZNF630-AS1 (E491Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197352	NM_001282201.2(ZNF630):c.139G>A (p.Val47Met)	ZNF630, ZNF630-AS1 (V33M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197351	NM_001282201.2(ZNF630):c.1241G>A (p.Arg414Gln)	ZNF630, ZNF630-AS1 (R400Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197350	NM_001282201.2(ZNF630):c.1109C>T (p.Thr370Ile)	ZNF630, ZNF630-AS1 (T246I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660441	NM_001282201.2(ZNF630):c.711T>C (p.Asp237=)	ZNF630, ZNF630-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660440	NM_001282201.2(ZNF630):c.*1T>C	ZNF630-AS1, ZNF630	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2618341	NM_001282201.2(ZNF630):c.831G>C (p.Gln277His)	ZNF630, ZNF630-AS1 (Q153H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539772	NM_001282201.2(ZNF630):c.122A>G (p.Tyr41Cys)	ZNF630, ZNF630-AS1 (Y27C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347861	NM_001282201.2(ZNF630):c.1426G>A (p.Gly476Ser)	ZNF630, ZNF630-AS1 (G462S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342387	NM_001282201.2(ZNF630):c.196C>A (p.Pro66Thr)	ZNF630, ZNF630-AS1 (P52T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330209	NM_001282201.2(ZNF630):c.1457C>A (p.Pro486His)	ZNF630, ZNF630-AS1 (P362H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327528	NM_001282201.2(ZNF630):c.1172T>C (p.Phe391Ser)	ZNF630, ZNF630-AS1 (F391S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324719	NM_001282201.2(ZNF630):c.112C>G (p.Leu38Val)	ZNF630, ZNF630-AS1 (L24V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321211	NM_001282201.2(ZNF630):c.1697C>T (p.Thr566Ile)	ZNF630, ZNF630-AS1 (T442I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319468	NM_001282201.2(ZNF630):c.274A>G (p.Ile92Val)	ZNF630, ZNF630-AS1 (I92V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318538	NM_001282201.2(ZNF630):c.152G>T (p.Gly51Val)	ZNF630, ZNF630-AS1 (G51V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288013	NM_001282201.2(ZNF630):c.11C>A (p.Ser4Tyr)	ZNF630, ZNF630-AS1 (S4Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2287577	NM_001282201.2(ZNF630):c.206T>C (p.Ile69Thr)	ZNF630, ZNF630-AS1 (I69T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286419	NM_001282201.2(ZNF630):c.1531G>C (p.Gly511Arg)	ZNF630, ZNF630-AS1 (G511R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281256	NM_001282201.2(ZNF630):c.1240C>T (p.Arg414Trp)	ZNF630, ZNF630-AS1 (R414W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261070	NM_001282201.2(ZNF630):c.199T>C (p.Trp67Arg)	ZNF630, ZNF630-AS1 (W53R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240860	NM_001282201.2(ZNF630):c.497C>A (p.Thr166Lys)	ZNF630, ZNF630-AS1 (T42K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228695	NM_001282201.2(ZNF630):c.1040A>G (p.Tyr347Cys)	ZNF630, ZNF630-AS1 (Y333C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206405	NM_001282201.2(ZNF630):c.650C>T (p.Ala217Val)	ZNF630, ZNF630-AS1 (A203V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 221775	GRCh37/hg19 Xp11.23(chrX:47911871-47970727)x1	ZNF630	Copy number loss	Premature ovarian failure	GBenign

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Links from Gene

Items: 31