ClinVar for Gene (Select 163071) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193947	NM_153608.4(ZNF114):c.934G>A (p.Ala312Thr)	ZNF114 (A358T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193945	NM_153608.4(ZNF114):c.821C>T (p.Thr274Ile)	ZNF114 (T274I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193944	NM_153608.4(ZNF114):c.812C>T (p.Thr271Ile)	ZNF114 (T317I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193943	NM_153608.4(ZNF114):c.689T>C (p.Phe230Ser)	ZNF114 (F230S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193942	NM_153608.4(ZNF114):c.328G>A (p.Ala110Thr)	ZNF114 (A110T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193941	NM_153608.4(ZNF114):c.1132C>T (p.His378Tyr)	ZNF114 (H424Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590871	NM_153608.4(ZNF114):c.436A>G (p.Ile146Val)	ZNF114 (I192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590736	NM_153608.4(ZNF114):c.458G>A (p.Arg153His)	ZNF114 (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537487	NM_153608.4(ZNF114):c.1123A>G (p.Lys375Glu)	ZNF114 (K375E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507876	NM_153608.4(ZNF114):c.1141A>C (p.Ser381Arg)	ZNF114 (S381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482546	NM_153608.4(ZNF114):c.1133A>G (p.His378Arg)	ZNF114 (H424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396645	NM_153608.4(ZNF114):c.31G>A (p.Val11Met)	ZNF114 (V57M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358525	NM_153608.4(ZNF114):c.166G>A (p.Ala56Thr)	ZNF114 (A102T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357868	NM_153608.4(ZNF114):c.698A>G (p.Asp233Gly)	ZNF114 (D279G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344348	NM_153608.4(ZNF114):c.1037A>G (p.His346Arg)	ZNF114 (H346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326444	NM_153608.4(ZNF114):c.523G>A (p.Glu175Lys)	ZNF114 (E221K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326300	NM_153608.4(ZNF114):c.1019C>G (p.Ala340Gly)	ZNF114 (A386G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321624	NM_153608.4(ZNF114):c.840A>C (p.Gln280His)	ZNF114 (Q326H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214900	NM_153608.4(ZNF114):c.411G>C (p.Arg137Ser)	ZNF114 (R137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208633	NM_153608.4(ZNF114):c.1112G>A (p.Arg371Gln)	ZNF114 (R371Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 785630	NM_153608.4(ZNF114):c.714A>G (p.Ala238=)	ZNF114	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769027	NM_153608.4(ZNF114):c.620T>C (p.Val207Ala)	ZNF114 (V253A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32