ClinVar for Gene (Select 7675) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334913	NM_001008727.5(ZNF121):c.170C>T (p.Ala57Val)	ZNF121 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334912	NM_001008727.5(ZNF121):c.311A>C (p.Gln104Pro)	ZNF121 (Q104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193971	NM_001008727.5(ZNF121):c.635G>A (p.Arg212His)	ZNF121 (R212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193970	NM_001008727.5(ZNF121):c.371C>G (p.Ala124Gly)	ZNF121 (A124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193969	NM_001008727.5(ZNF121):c.335G>T (p.Gly112Val)	ZNF121 (G112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193968	NM_001008727.5(ZNF121):c.139A>G (p.Asn47Asp)	ZNF121 (N47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615159	NM_001008727.5(ZNF121):c.397G>T (p.Val133Leu)	ZNF121 (V133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545432	NM_001008727.5(ZNF121):c.1054T>G (p.Ser352Ala)	ZNF121 (S352A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541509	NM_001008727.5(ZNF121):c.205A>G (p.Lys69Glu)	ZNF121 (K69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540166	NM_001008727.5(ZNF121):c.602A>G (p.Gln201Arg)	ZNF121 (Q201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470791	NM_001008727.5(ZNF121):c.455T>G (p.Phe152Cys)	ZNF121 (F152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405072	NM_001008727.5(ZNF121):c.361T>C (p.Cys121Arg)	ZNF121 (C121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355867	NM_001008727.5(ZNF121):c.266A>C (p.Glu89Ala)	ZNF121 (E89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329144	NM_001008727.5(ZNF121):c.133G>A (p.Gly45Arg)	ZNF121 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308662	NM_001008727.5(ZNF121):c.1105A>G (p.Ile369Val)	ZNF121 (I369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292127	NM_001008727.5(ZNF121):c.80A>T (p.Asn27Ile)	ZNF121 (N27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282534	NM_001008727.5(ZNF121):c.1049G>A (p.Arg350His)	ZNF121 (R350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235911	NM_001008727.5(ZNF121):c.401C>G (p.Ser134Cys)	ZNF121 (S134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212231	NM_001008727.5(ZNF121):c.49G>A (p.Gly17Arg)	ZNF121 (G17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29