ClinVar for Gene (Select 148206) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197936	NM_182515.4(ZNF714):c.17A>G (p.Glu6Gly)	ZNF714 (E6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197935	NM_182515.4(ZNF714):c.14T>C (p.Leu5Ser)	ZNF714 (L5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649620	NM_182515.4(ZNF714):c.690A>G (p.Arg230=)	ZNF714	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2518663	NM_182515.4(ZNF714):c.71C>T (p.Pro24Leu)	ZNF714 (P24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271779	NM_182515.4(ZNF714):c.298A>G (p.Lys100Glu)	ZNF714 (K100E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2271778	NM_182515.4(ZNF714):c.292T>C (p.Tyr98His)	ZNF714 (Y98H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1340965	GRCh37/hg19 19p12(chr19:21165166-21346267)x1	ZNF430, ZNF431 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340826	GRCh37/hg19 19p12(chr19:21244254-21350697)x1	ZNF431, ZNF714	Copy number loss	not provided	GLikely benign
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 564603	GRCh37/hg19 19p13.11-12(chr19:19903805-21966609)x1	ZNF737, ZNF708 +14 more	Copy number loss	not provided	GUncertain significance
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 395114	GRCh37/hg19 19p12(chr19:21255363-21349259)x1	ZNF431, ZNF714	Copy number loss	See cases	GUncertain significance
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155371	GRCh38/hg38 19p13.11-12(chr19:19767502-21093565)x1	ERVS71-1, LINC00663 +25 more	Copy number loss	See cases	GUncertain significance
Select item 155171	GRCh38/hg38 19p12(chr19:20577633-21096146)x3	LOC126862885, LOC130064096 +6 more	Copy number gain	See cases	GLikely benign
Select item 153725	GRCh38/hg38 19p12(chr19:20637987-21976216)x3	LINC00664, LOC105372321 +27 more	Copy number gain	See cases	GUncertain significance
Select item 148518	GRCh38/hg38 19p12(chr19:20859049-21165434)x1	LOC116276512, LOC126862886 +7 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22