ZNF844[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	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 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 2281816	NM_001136501.3(ZNF844):c.119T>C (p.Leu40Pro)	ZNF844 (L40P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606979	NM_001136501.3(ZNF844):c.127A>G (p.Ile43Val)	ZNF844 (I43V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465052	NM_001136501.3(ZNF844):c.150G>C (p.Gln50His)	ZNF844 (Q50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254050	NM_001136501.3(ZNF844):c.352C>G (p.Leu118Val)	ZNF844 (L118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198780	NM_001136501.3(ZNF844):c.368G>A (p.Arg123Lys)	ZNF844 (R123K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198781	NM_001136501.3(ZNF844):c.389C>T (p.Pro130Leu)	ZNF844 (P130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198783	NM_001136501.3(ZNF844):c.397T>C (p.Tyr133His)	ZNF844 (Y133H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198784	NM_001136501.3(ZNF844):c.475C>A (p.Gln159Lys)	ZNF844 (Q159K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198785	NM_001136501.3(ZNF844):c.590A>G (p.Tyr197Cys)	ZNF844 (Y197C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321471	NM_001136501.3(ZNF844):c.631A>G (p.Ile211Val)	ZNF844 (I211V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364877	NM_001136501.3(ZNF844):c.698C>G (p.Ala233Gly)	ZNF844 (A233G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461810	NM_001136501.3(ZNF844):c.715T>A (p.Ser239Thr)	ZNF844 (S239T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259767	NM_001136501.3(ZNF844):c.728A>G (p.His243Arg)	ZNF844 (H243R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259769	NM_001136501.3(ZNF844):c.748G>A (p.Glu250Lys)	ZNF844 (E250K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520670	NM_001136501.3(ZNF844):c.761A>C (p.Glu254Ala)	ZNF844 (E254A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259768	NM_001136501.3(ZNF844):c.776G>T (p.Gly259Val)	ZNF844 (G259V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247349	NM_001136501.3(ZNF844):c.787G>A (p.Gly263Ser)	ZNF844 (G263S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207012	NM_001136501.3(ZNF844):c.794C>T (p.Pro265Leu)	ZNF844 (P265L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232844	NM_001136501.3(ZNF844):c.818G>A (p.Arg273Lys)	ZNF844 (R273K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198786	NM_001136501.3(ZNF844):c.825C>A (p.His275Gln)	ZNF844 (H275Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198787	NM_001136501.3(ZNF844):c.841T>A (p.Tyr281Asn)	ZNF844 (Y281N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548745	NM_001136501.3(ZNF844):c.881A>G (p.His294Arg)	ZNF844 (H294R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474513	NM_001136501.3(ZNF844):c.940T>A (p.Cys314Ser)	ZNF844 (C314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198788	NM_001136501.3(ZNF844):c.995C>G (p.Ser332Cys)	ZNF844 (S332C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512711	NM_001136501.3(ZNF844):c.1025G>A (p.Cys342Tyr)	ZNF844 (C342Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684562	NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer)	ZNF844	Microsatellite (nonsense +1 more)	not provided	Gnot provided
Select item 2616548	NM_001136501.3(ZNF844):c.1063A>G (p.Met355Val)	ZNF844 (M355V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198771	NM_001136501.3(ZNF844):c.1094A>C (p.Lys365Thr)	ZNF844 (K365T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219374	NM_001136501.3(ZNF844):c.1133G>C (p.Arg378Pro)	ZNF844 (R378P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360302	NM_001136501.3(ZNF844):c.1204A>G (p.Ile402Val)	ZNF844 (I402V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615350	NM_001136501.3(ZNF844):c.1213G>T (p.Val405Phe)	ZNF844 (V405F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198774	NM_001136501.3(ZNF844):c.1294C>T (p.Pro432Ser)	ZNF844 (P432S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198775	NM_001136501.3(ZNF844):c.1330G>A (p.Glu444Lys)	ZNF844 (E444K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259771	NM_001136501.3(ZNF844):c.1342A>C (p.Met448Leu)	ZNF844 (M448L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777521	NM_001136501.3(ZNF844):c.1384_1385del (p.Thr462fs)	ZNF844 (T462fs)	Microsatellite (frameshift variant +1 more)	not provided	GBenign
Select item 2310646	NM_001136501.3(ZNF844):c.1409C>T (p.Thr470Ile)	ZNF844 (T470I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393465	NM_001136501.3(ZNF844):c.1523A>T (p.Asn508Ile)	ZNF844 (N508I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198776	NM_001136501.3(ZNF844):c.1532A>G (p.Lys511Arg)	ZNF844 (K511R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780534	NM_001136501.3(ZNF844):c.1611G>A (p.Val537=)	ZNF844	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2326679	NM_001136501.3(ZNF844):c.1614A>T (p.Lys538Asn)	ZNF844 (K538N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198778	NM_001136501.3(ZNF844):c.1719C>G (p.Phe573Leu)	ZNF844 (F573L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782321	NM_001136501.3(ZNF844):c.1750A>T (p.Met584Leu)	ZNF844 (M584L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2397611	NM_001136501.3(ZNF844):c.1756A>G (p.Met586Val)	ZNF844 (M586V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259770	NM_001136501.3(ZNF844):c.1781A>G (p.His594Arg)	ZNF844 (H594R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259773	NM_001136501.3(ZNF844):c.1842G>T (p.Met614Ile)	ZNF844 (M614I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551250	NM_001136501.3(ZNF844):c.1852A>C (p.Asn618His)	ZNF844 (N618H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344071	NM_001136501.3(ZNF844):c.1856C>G (p.Ala619Gly)	ZNF844 (A619G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322411	NM_001136501.3(ZNF844):c.1865G>A (p.Arg622His)	ZNF844 (R622H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2368696	NM_001136501.3(ZNF844):c.1910T>C (p.Leu637Pro)	ZNF844 (L637P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198779	NM_001136501.3(ZNF844):c.1924A>G (p.Ile642Val)	ZNF844 (I642V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 1809154	GRCh37/hg19 19p13.2(chr19:11753820-12272905)x1	ZNF20, ZNF433 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1340169	GRCh37/hg19 19p13.2(chr19:12061304-12242460)x1	ZNF20, ZNF433 +4 more	Copy number loss	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
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 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 67