ZNF100[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 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
Select item 153725	GRCh38/hg38 19p12(chr19:20637987-21976216)x3	LINC00664, LOC105372321 +27 more	Copy number gain	See cases	GUncertain significance
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 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 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 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 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 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 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 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 2649627	NM_173531.4(ZNF100):c.1257T>C (p.His419=)	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 769968	NM_173531.4(ZNF100):c.1239C>T (p.Ser413=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 790885	NM_173531.4(ZNF100):c.989C>A (p.Ser330Ter)	ZNF100 (S329* +4 more)	Single nucleotide variant (nonsense)	not provided	GBenign
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 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 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 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 2649629	NM_173531.4(ZNF100):c.813C>T (p.Asn271=)	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 2649631	NM_173531.4(ZNF100):c.801G>C (p.Gly267=)	ZNF100	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2649632	NM_173531.4(ZNF100):c.78G>T (p.Val26=)	ZNF100	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 777453	NM_173531.4(ZNF100):c.66G>C (p.Arg22Ser)	ZNF100 (R22S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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

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Items: 59