ClinVar for Gene (Select 284390) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259436	NM_001367172.2(ZNF763):c.800G>A (p.Ser267Asn)	ZNF69, ZNF763 (S145N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259435	NM_001367172.2(ZNF763):c.904C>G (p.His302Asp)	ZNF69, ZNF763 (H302D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259434	NM_001367172.2(ZNF763):c.1067G>A (p.Arg356His)	ZNF69, ZNF763 (R234H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259433	NM_001367172.2(ZNF763):c.326T>C (p.Phe109Ser)	ZNF69, ZNF763 (F111S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198156	NM_001367172.2(ZNF763):c.737A>T (p.His246Leu)	ZNF69, ZNF763 (H124L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198155	NM_001367172.2(ZNF763):c.731G>A (p.Arg244Gln)	ZNF69, ZNF763 (R247Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198154	NM_001367172.2(ZNF763):c.403G>C (p.Glu135Gln)	ZNF69, ZNF763 (E137Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198153	NM_001367172.2(ZNF763):c.403G>A (p.Glu135Lys)	ZNF69, ZNF763 (E137K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198152	NM_001367172.2(ZNF763):c.350G>A (p.Gly117Asp)	ZNF69, ZNF763 (G117D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198151	NM_001367172.2(ZNF763):c.183A>T (p.Arg61Ser)	ZNF69, ZNF763 (R63S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198150	NM_001367172.2(ZNF763):c.121A>G (p.Thr41Ala)	ZNF69, ZNF763 (T41A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2594514	NM_001367172.2(ZNF763):c.479G>A (p.Arg160Lys)	ZNF69, ZNF763 (R160K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553744	NM_001367172.2(ZNF763):c.346A>C (p.Ile116Leu)	ZNF69, ZNF763 (I116L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550023	NM_001367172.2(ZNF763):c.749A>T (p.His250Leu)	ZNF69, ZNF763 (H128L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546137	NM_001367172.2(ZNF763):c.21G>T (p.Glu7Asp)	ZNF69, ZNF763 (E10D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546136	NM_001367172.2(ZNF763):c.17G>T (p.Cys6Phe)	ZNF69, ZNF763 (C9F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2544145	NM_001367172.2(ZNF763):c.166T>C (p.Tyr56His)	ZNF69, ZNF763 (Y58H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494425	NM_001367172.2(ZNF763):c.31G>A (p.Val11Met)	ZNF69, ZNF763 (V13M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484799	NM_001367172.2(ZNF763):c.535A>G (p.Lys179Glu)	ZNF69, ZNF763 (K182E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483626	NM_001367172.2(ZNF763):c.821A>G (p.His274Arg)	ZNF69, ZNF763 (H152R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464832	NM_001367172.2(ZNF763):c.384C>A (p.Asp128Glu)	ZNF69, ZNF763 (D128E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 2408467	NM_001367172.2(ZNF763):c.964C>T (p.Arg322Cys)	ZNF69, ZNF763 (R200C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399881	NM_001367172.2(ZNF763):c.431A>C (p.Tyr144Ser)	ZNF69, ZNF763 (Y146S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398264	NM_001367172.2(ZNF763):c.919A>G (p.Thr307Ala)	ZNF69, ZNF763 (T309A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347760	NM_001367172.2(ZNF763):c.1130T>C (p.Leu377Ser)	ZNF69, ZNF763 (L379S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310305	NM_001367172.2(ZNF763):c.494A>G (p.Asn165Ser)	ZNF69, ZNF763 (N165S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308985	NM_001367172.2(ZNF763):c.847C>T (p.Pro283Ser)	ZNF69, ZNF763 (P161S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275481	NM_001367172.2(ZNF763):c.106A>G (p.Thr36Ala)	ZNF69, ZNF763 (T36A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268153	NM_001367172.2(ZNF763):c.112A>G (p.Arg38Gly)	ZNF69, ZNF763 (R38G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258785	NM_001367172.2(ZNF763):c.416A>C (p.Tyr139Ser)	ZNF69, ZNF763 (Y142S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234330	NM_001367172.2(ZNF763):c.569G>A (p.Arg190His)	ZNF69, ZNF763 (R192H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 781443	NM_001367172.2(ZNF763):c.33G>A (p.Val11=)	ZNF69, ZNF763	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773349	NM_001367172.2(ZNF763):c.625G>T (p.Val209Phe)	ZNF69, ZNF763 (V212F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	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 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
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 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 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 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 51