ClinVar for Gene (Select 79027) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259074	NM_138494.3(ZNF655):c.1460C>A (p.Thr487Asn)	ZNF655 (T487N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
Select item 3197519	NM_138494.3(ZNF655):c.760A>C (p.Ser254Arg)	ZNF655 (S289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197518	NM_138494.3(ZNF655):c.629A>T (p.Lys210Ile)	ZNF655 (K210I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197516	NM_138494.3(ZNF655):c.188C>T (p.Ser63Leu)	ZNF655 (S98L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197515	NM_138494.3(ZNF655):c.1444C>T (p.His482Tyr)	ZNF655 (H482Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197514	NM_138494.3(ZNF655):c.1328G>A (p.Gly443Asp)	ZNF655 (G443D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197513	NM_138494.3(ZNF655):c.1256A>C (p.Gln419Pro)	ZNF655 (Q454P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197512	NM_138494.3(ZNF655):c.1217A>G (p.Lys406Arg)	ZNF655 (K441R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197511	NM_138494.3(ZNF655):c.1027T>C (p.Ser343Pro)	ZNF655 (S343P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2685253	GRCh37/hg19 7q22.1(chr7:99057038-99165274)x1	ATP5MF, ATP5MF-PTCD1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2657723	NM_138494.3(ZNF655):c.798A>G (p.Lys266=)	ZNF655	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657722	NM_138494.3(ZNF655):c.468C>T (p.Thr156=)	ZNF655	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609302	NM_138494.3(ZNF655):c.1232A>G (p.Asn411Ser)	ZNF655 (N411S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603542	NM_138494.3(ZNF655):c.476A>G (p.Asn159Ser)	ZNF655 (N194S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2555371	NM_138494.3(ZNF655):c.1222C>G (p.His408Asp)	ZNF655 (H408D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2530420	NM_138494.3(ZNF655):c.836C>A (p.Ala279Glu)	ZNF655 (A279E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492209	NM_138494.3(ZNF655):c.1058A>G (p.His353Arg)	ZNF655 (H353R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488564	NM_138494.3(ZNF655):c.1021C>T (p.His341Tyr)	ZNF655 (H376Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480177	NM_138494.3(ZNF655):c.13C>A (p.Pro5Thr)	ZNF655 (P5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457935	NM_138494.3(ZNF655):c.692A>G (p.Gln231Arg)	ZNF655 (Q266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2403886	NM_138494.3(ZNF655):c.401C>T (p.Pro134Leu)	ZNF655 (P134L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384078	NM_138494.3(ZNF655):c.137-525C>G	ZNF655 (Q57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371126	NM_138494.3(ZNF655):c.1362A>T (p.Gln454His)	ZNF655 (Q454H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285801	NM_138494.3(ZNF655):c.112G>A (p.Asp38Asn)	ZNF655 (D38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277336	NM_138494.3(ZNF655):c.537T>G (p.Asn179Lys)	ZNF655 (N179K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266666	NM_138494.3(ZNF655):c.1417T>C (p.Ser473Pro)	ZNF655 (S473P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235090	NM_138494.3(ZNF655):c.232C>T (p.His78Tyr)	ZNF655 (H113Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228995	NM_138494.3(ZNF655):c.235G>A (p.Asp79Asn)	ZNF655 (D114N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	MOSPD3, PPP1R35 +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 783501	NM_138494.3(ZNF655):c.1396T>G (p.Cys466Gly)	ZNF655 (C466G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687317	GRCh37/hg19 7q22.1(chr7:98758955-99368262)x1	ARPC1A, ARPC1B +16 more	Copy number loss	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253793	GRCh37/hg19 7q22.1(chr7:98985840-99171421)x3	ATP5MF-PTCD1, BUD31 +10 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55