ClinVar for Gene (Select 81030) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2599074	NM_030776.3(ZBP1):c.752C>T (p.Pro251Leu)	ZBP1 (P176L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2558643	NM_030776.3(ZBP1):c.154A>G (p.Met52Val)	ZBP1 (M52V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512025	NM_030776.3(ZBP1):c.290T>A (p.Ile97Asn)	ZBP1 (I22N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492631	NM_030776.3(ZBP1):c.676G>A (p.Ala226Thr)	ZBP1 (A151T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2388522	NM_030776.3(ZBP1):c.679G>A (p.Gly227Ser)	ZBP1 (G227S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380860	NM_030776.3(ZBP1):c.1111A>C (p.Thr371Pro)	ZBP1 (T370P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379274	NM_030776.3(ZBP1):c.829G>A (p.Val277Ile)	ZBP1 (V276I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351133	NM_030776.3(ZBP1):c.1274G>T (p.Trp425Leu)	ZBP1 (W424L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341193	NM_030776.3(ZBP1):c.667G>A (p.Asp223Asn)	ZBP1 (D222N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340834	NM_030776.3(ZBP1):c.1075G>A (p.Glu359Lys)	ZBP1 (E284K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338206	NM_030776.3(ZBP1):c.464T>C (p.Met155Thr)	ZBP1 (M155T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298364	NM_030776.3(ZBP1):c.818G>A (p.Arg273Lys)	ZBP1 (R198K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270997	NM_030776.3(ZBP1):c.716C>A (p.Ser239Tyr)	ZBP1 (S164Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220551	NM_030776.3(ZBP1):c.988G>A (p.Glu330Lys)	ZBP1 (E329K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210121	NM_030776.3(ZBP1):c.994G>A (p.Ala332Thr)	ZBP1 (A332T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 787496	NM_030776.3(ZBP1):c.1266G>A (p.Gly422=)	ZBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779046	NM_030776.3(ZBP1):c.172G>T (p.Val58Phe)	ZBP1 (V58F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 770672	NM_030776.3(ZBP1):c.670G>A (p.Gly224Ser)	ZBP1 (G223S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	ANKRD60, APCDD1L +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37