ClinVar for Gene (Select 7551) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335410	NM_032924.5(ZNF3):c.872A>T (p.Lys291Met)	ZNF3 (K255M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335409	NM_032924.5(ZNF3):c.923G>T (p.Gly308Val)	ZNF3 (G229V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260055	NM_145914.3(ZSCAN21):c.763C>G (p.Gln255Glu)	ZNF3, ZSCAN21 (Q255E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3199377	NM_145914.3(ZSCAN21):c.928T>C (p.Cys310Arg)	ZNF3, ZSCAN21 (C310R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3199376	NM_145914.3(ZSCAN21):c.863A>G (p.Asn288Ser)	ZNF3, ZSCAN21 (N288S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3199375	NM_145914.3(ZSCAN21):c.832A>G (p.Ile278Val)	ZNF3, ZSCAN21 (I278V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3199374	NM_145914.3(ZSCAN21):c.826C>T (p.Arg276Cys)	ZNF3, ZSCAN21 (R276C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3199373	NM_145914.3(ZSCAN21):c.782A>C (p.Lys261Thr)	ZNF3, ZSCAN21 (K261T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199371	NM_145914.3(ZSCAN21):c.1418C>T (p.Pro473Leu)	ZNF3, ZSCAN21 (P473L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3199370	NM_145914.3(ZSCAN21):c.1367A>G (p.Lys456Arg)	ZNF3, ZSCAN21 (K456R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199369	NM_145914.3(ZSCAN21):c.1316C>T (p.Thr439Ile)	ZNF3, ZSCAN21 (P405S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199368	NM_145914.3(ZSCAN21):c.1277A>C (p.Asn426Thr)	ZNF3, ZSCAN21 (T392P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3195008	NM_032924.5(ZNF3):c.860A>G (p.Asn287Ser)	ZNF3 (N287S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195006	NM_032924.5(ZNF3):c.407T>G (p.Leu136Arg)	ZNF3 (L136R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195005	NM_032924.5(ZNF3):c.22G>C (p.Val8Leu)	ZNF3 (V8L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195004	NM_032924.5(ZNF3):c.1310C>T (p.Thr437Met)	ZNF3 (T358M +4 more)	Single nucleotide variant (missense variant +1 more)	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 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
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 2551762	NM_032924.5(ZNF3):c.103G>A (p.Asp35Asn)	ZNF3 (D35N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540634	NM_145914.3(ZSCAN21):c.845G>C (p.Cys282Ser)	ZNF3, ZSCAN21 (C282S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2516480	NM_145914.3(ZSCAN21):c.796G>A (p.Val266Ile)	ZNF3, ZSCAN21 (V266I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2411646	NM_145914.3(ZSCAN21):c.1013G>T (p.Gly338Val)	ZNF3, ZSCAN21 (G338V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2399815	NM_032924.5(ZNF3):c.298C>G (p.Gln100Glu)	ZNF3 (Q107E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393417	NM_145914.3(ZSCAN21):c.1247A>G (p.Tyr416Cys)	ZNF3, ZSCAN21 (I382V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2389813	NM_145914.3(ZSCAN21):c.1055G>A (p.Arg352Lys)	ZNF3, ZSCAN21 (E318K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343902	NM_032924.5(ZNF3):c.253G>A (p.Gly85Arg)	ZNF3 (G85R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342802	NM_032924.5(ZNF3):c.434G>A (p.Gly145Glu)	ZNF3 (G152E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332594	NM_032924.5(ZNF3):c.511A>G (p.Ser171Gly)	ZNF3 (S135G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297246	NM_032924.5(ZNF3):c.40G>A (p.Ala14Thr)	ZNF3 (A14T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296447	NM_145914.3(ZSCAN21):c.865A>G (p.Ser289Gly)	ZNF3, ZSCAN21 (S289G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2280040	NM_032924.5(ZNF3):c.395G>A (p.Arg132Gln)	ZNF3 (R139Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2263000	NM_032924.5(ZNF3):c.542T>G (p.Phe181Cys)	ZNF3 (F145C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254307	NM_032924.5(ZNF3):c.643C>T (p.Leu215Phe)	ZNF3 (L179F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250789	NM_145914.3(ZSCAN21):c.890G>C (p.Arg297Thr)	ZNF3, ZSCAN21 (E263Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2229125	NM_032924.5(ZNF3):c.599A>G (p.His200Arg)	ZNF3 (H205R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217334	NM_032924.5(ZNF3):c.297T>A (p.Asp99Glu)	ZNF3 (D104E +4 more)	Single nucleotide variant (missense variant +1 more)	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 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +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 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
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 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 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
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: 63