ClinVar for Gene (Select 94039) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193881	NM_033204.4(ZNF101):c.901G>C (p.Glu301Gln)	ZNF101 (E181Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193880	NM_033204.4(ZNF101):c.730G>A (p.Val244Ile)	ZNF101 (V244I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193879	NM_033204.4(ZNF101):c.544A>G (p.Asn182Asp)	ZNF101 (N62D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193878	NM_033204.4(ZNF101):c.1010C>A (p.Pro337His)	ZNF101 (P217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2614534	NM_033204.4(ZNF101):c.638G>A (p.Arg213Gln)	ZNF101 (R213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610615	NM_033204.4(ZNF101):c.475C>T (p.Arg159Cys)	ZNF101 (R159C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607495	NM_033204.4(ZNF101):c.60G>T (p.Leu20Phe)	ZNF101 (L20F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2601058	NM_033204.4(ZNF101):c.1067A>G (p.His356Arg)	ZNF101 (H236R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597368	NM_033204.4(ZNF101):c.23A>G (p.Asp8Gly)	ZNF101 (D8G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592543	NM_033204.4(ZNF101):c.830C>G (p.Ala277Gly)	ZNF101 (A277G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554131	NM_033204.4(ZNF101):c.829G>A (p.Ala277Thr)	ZNF101 (A157T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478620	NM_033204.4(ZNF101):c.755C>T (p.Pro252Leu)	ZNF101 (P132L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463922	NM_033204.4(ZNF101):c.865A>G (p.Lys289Glu)	ZNF101 (K289E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392892	NM_033204.4(ZNF101):c.1216T>C (p.Ser406Pro)	ZNF101 (S406P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372446	NM_033204.4(ZNF101):c.812A>G (p.His271Arg)	ZNF101 (H151R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366209	NM_033204.4(ZNF101):c.500G>C (p.Arg167Thr)	ZNF101 (R167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361200	NM_033204.4(ZNF101):c.670C>T (p.Arg224Cys)	ZNF101 (R224C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360664	NM_033204.4(ZNF101):c.950A>G (p.Lys317Arg)	ZNF101 (K317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357561	NM_033204.4(ZNF101):c.494G>A (p.Arg165Gln)	ZNF101 (R165Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352781	NM_033204.4(ZNF101):c.337C>T (p.Arg113Cys)	ZNF101 (R113C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348536	NM_033204.4(ZNF101):c.316G>A (p.Val106Met)	ZNF101 (V106M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280454	NM_033204.4(ZNF101):c.794C>T (p.Ala265Val)	ZNF101 (A145V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275293	NM_033204.4(ZNF101):c.931G>A (p.Glu311Lys)	ZNF101 (E191K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252222	NM_033204.4(ZNF101):c.93T>G (p.Asp31Glu)	ZNF101 (D31E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2250432	NM_033204.4(ZNF101):c.403G>C (p.Glu135Gln)	ZNF101 (E15Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233673	NM_033204.4(ZNF101):c.337C>A (p.Arg113Ser)	ZNF101 (R113S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687397	GRCh37/hg19 19p13.11(chr19:19709006-19793143)x1	ATP13A1, GMIP +3 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 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	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: 38