ClinVar for Gene (Select 163227) - ClinVar

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

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334866	NM_173531.4(ZNF100):c.477A>T (p.Lys159Asn)	ZNF100 (K126N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334865	NM_173531.4(ZNF100):c.1431G>T (p.Met477Ile)	ZNF100 (M476I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334864	NM_173531.4(ZNF100):c.286A>G (p.Asn96Asp)	ZNF100 (N95D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334863	NM_173531.4(ZNF100):c.821C>T (p.Ser274Leu)	ZNF100 (S59L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334862	NM_173531.4(ZNF100):c.991C>G (p.His331Asp)	ZNF100 (H230D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193877	NM_173531.4(ZNF100):c.862C>A (p.Pro288Thr)	ZNF100 (P287T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193876	NM_173531.4(ZNF100):c.817T>C (p.Ser273Pro)	ZNF100 (S172P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193875	NM_173531.4(ZNF100):c.508A>G (p.Ile170Val)	ZNF100 (I169V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193874	NM_173531.4(ZNF100):c.458A>T (p.Asp153Val)	ZNF100 (D153V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193872	NM_173531.4(ZNF100):c.317C>T (p.Pro106Leu)	ZNF100 (P105L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193871	NM_173531.4(ZNF100):c.208A>C (p.Asn70His)	ZNF100 (N70H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193870	NM_173531.4(ZNF100):c.1357G>A (p.Gly453Arg)	ZNF100 (G420R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649633	NM_173531.4(ZNF100):c.75G>A (p.Leu25=)	ZNF100	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649632	NM_173531.4(ZNF100):c.78G>T (p.Val26=)	ZNF100	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649631	NM_173531.4(ZNF100):c.801G>C (p.Gly267=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649630	NM_173531.4(ZNF100):c.807A>T (p.Ala269=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649629	NM_173531.4(ZNF100):c.813C>T (p.Asn271=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649628	NM_173531.4(ZNF100):c.1248C>T (p.Leu416=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649627	NM_173531.4(ZNF100):c.1257T>C (p.His419=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624386	NM_173531.4(ZNF100):c.740C>T (p.Thr247Ile)	ZNF100 (T32I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623747	NM_173531.4(ZNF100):c.1464G>C (p.Glu488Asp)	ZNF100 (E387D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608635	NM_173531.4(ZNF100):c.179A>G (p.Tyr60Cys)	ZNF100 (Y60C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569742	NM_173531.4(ZNF100):c.431A>G (p.Gln144Arg)	ZNF100 (Q111R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535832	NM_173531.4(ZNF100):c.680A>G (p.His227Arg)	ZNF100 (H126R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519360	NM_173531.4(ZNF100):c.449A>T (p.Lys150Ile)	ZNF100 (K117I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458317	NM_173531.4(ZNF100):c.886A>G (p.Lys296Glu)	ZNF100 (K81E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408325	NM_173531.4(ZNF100):c.1030C>G (p.Pro344Ala)	ZNF100 (P311A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393483	NM_173531.4(ZNF100):c.340C>G (p.Pro114Ala)	ZNF100 (P114A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2378648	NM_173531.4(ZNF100):c.790G>A (p.Glu264Lys)	ZNF100 (E231K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376483	NM_173531.4(ZNF100):c.649C>A (p.Leu217Ile)	ZNF100 (L116I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357867	NM_173531.4(ZNF100):c.81G>C (p.Gln27His)	ZNF100 (Q27H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2357866	NM_173531.4(ZNF100):c.68G>A (p.Ser23Asn)	ZNF100 (S23N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2357639	NM_173531.4(ZNF100):c.1618C>G (p.Leu540Val)	ZNF100 (L325V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308941	NM_173531.4(ZNF100):c.1619T>A (p.Leu540Gln)	ZNF100 (L325Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296467	NM_173531.4(ZNF100):c.1304G>C (p.Gly435Ala)	ZNF100 (G435A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282610	NM_173531.4(ZNF100):c.389C>T (p.Ala130Val)	ZNF100 (A129V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2254230	NM_173531.4(ZNF100):c.1297G>C (p.Glu433Gln)	ZNF100 (E400Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217849	NM_173531.4(ZNF100):c.491A>G (p.Lys164Arg)	ZNF100 (K63R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341123	GRCh37/hg19 19p12(chr19:21856925-22415702)x3	ZNF100, ZNF208 +3 more	Copy number gain	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 816072	GRCh37/hg19 19p12(chr19:21885953-21981841)x1	ZNF100	Copy number loss	not provided	GLikely benign
Select item 816071	GRCh37/hg19 19p12(chr19:21717186-23008275)x3	ZNF100, ZNF208 +8 more	Copy number gain	not provided	GLikely benign
Select item 790885	NM_173531.4(ZNF100):c.989C>A (p.Ser330Ter)	ZNF100 (S329* +4 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 777453	NM_173531.4(ZNF100):c.66G>C (p.Arg22Ser)	ZNF100 (R22S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 769968	NM_173531.4(ZNF100):c.1239C>T (p.Ser413=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 564592	GRCh37/hg19 19p12(chr19:21544570-21986301)x3	ZNF429, ZNF493 +1 more	Copy number gain	not provided	GLikely benign
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 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 161828	NM_173531.4(ZNF100):c.407del (p.Gly136fs)	ZNF100 (G103fs +3 more)	Deletion (frameshift variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 153725	GRCh38/hg38 19p12(chr19:20637987-21976216)x3	LINC00664, LOC105372321 +27 more	Copy number gain	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 146475	GRCh38/hg38 19p12(chr19:21591877-22802732)x3	ZNF100, LINC01233 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145763	GRCh38/hg38 19p12(chr19:21591877-22830542)x3	LINC01233, LINC01785 +14 more	Copy number gain	See cases	GBenign
Select item 145093	GRCh38/hg38 19p12(chr19:21591877-22802673)x3	LINC01233, LINC01785 +13 more	Copy number gain	See cases	GBenign
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

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: 59