ClinVar for Gene (Select 163071) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334902	NM_153608.4(ZNF114):c.793A>G (p.Met265Val)	ZNF114 (M265V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334901	NM_153608.4(ZNF114):c.1096T>C (p.Cys366Arg)	ZNF114 (C366R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334900	NM_153608.4(ZNF114):c.259A>G (p.Arg87Gly)	ZNF114 (R133G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334899	NM_153608.4(ZNF114):c.604G>A (p.Gly202Ser)	ZNF114 (G202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242694	NC_000019.9:g.(?_48744199)_(48822028_?)del	CARD8, ODAD1 +1 more	Deletion	not provided	GUncertain significance
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	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +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	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37