ZKSCAN7[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2528139	NM_001288590.2(ZKSCAN7):c.34A>G (p.Ile12Val)	ZKSCAN7 (I12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334776	NM_001288590.2(ZKSCAN7):c.44G>A (p.Ser15Asn)	ZKSCAN7 (S15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334770	NM_001288590.2(ZKSCAN7):c.121A>C (p.Ser41Arg)	ZKSCAN7 (S41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334766	NM_001288590.2(ZKSCAN7):c.128A>T (p.Gln43Leu)	ZKSCAN7 (Q43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193684	NM_001288590.2(ZKSCAN7):c.145G>A (p.Val49Ile)	ZKSCAN7 (V49I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193687	NM_001288590.2(ZKSCAN7):c.194T>C (p.Met65Thr)	ZKSCAN7 (M65T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511719	NM_001288590.2(ZKSCAN7):c.239G>A (p.Arg80His)	ZKSCAN7 (R80H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193688	NM_001288590.2(ZKSCAN7):c.349C>T (p.His117Tyr)	ZKSCAN7, ZKSCAN7-AS1 (H117Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3193689	NM_001288590.2(ZKSCAN7):c.527C>G (p.Ala176Gly)	ZKSCAN7, ZKSCAN7-AS1 (A26G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218447	NM_001288590.2(ZKSCAN7):c.667C>T (p.Arg223Trp)	ZKSCAN7, ZKSCAN7-AS1 (R73W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285991	NM_001288590.2(ZKSCAN7):c.679C>T (p.Pro227Ser)	ZKSCAN7, ZKSCAN7-AS1 (P227S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246361	NM_001288590.2(ZKSCAN7):c.689C>T (p.Thr230Ile)	ZKSCAN7, ZKSCAN7-AS1 (T230I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457504	NM_001288590.2(ZKSCAN7):c.694G>A (p.Ala232Thr)	ZKSCAN7, ZKSCAN7-AS1 (A232T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385170	NM_001288590.2(ZKSCAN7):c.713T>A (p.Val238Glu)	ZKSCAN7, ZKSCAN7-AS1 (V88E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334769	NM_001288590.2(ZKSCAN7):c.739A>G (p.Ser247Gly)	ZKSCAN7, ZKSCAN7-AS1 (S247G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334773	NM_001288590.2(ZKSCAN7):c.745A>G (p.Thr249Ala)	ZKSCAN7, ZKSCAN7-AS1 (T99A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266482	NM_001288590.2(ZKSCAN7):c.757A>G (p.Arg253Gly)	ZKSCAN7, ZKSCAN7-AS1 (R103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289295	NM_001288590.2(ZKSCAN7):c.908G>A (p.Gly303Glu)	ZKSCAN7, ZKSCAN7-AS1 (G303E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334768	NM_001288590.2(ZKSCAN7):c.940G>A (p.Val314Ile)	ZKSCAN7, ZKSCAN7-AS1 (V314I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247408	NM_001288590.2(ZKSCAN7):c.956T>C (p.Phe319Ser)	ZKSCAN7, ZKSCAN7-AS1 (F168S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193690	NM_001288590.2(ZKSCAN7):c.977C>G (p.Thr326Ser)	ZKSCAN7, ZKSCAN7-AS1 (T326S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193691	NM_001288590.2(ZKSCAN7):c.992G>A (p.Gly331Glu)	ZKSCAN7, ZKSCAN7-AS1 (G180E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334774	NM_001288590.2(ZKSCAN7):c.1065C>G (p.Asp355Glu)	ZKSCAN7, ZKSCAN7-AS1 (D204E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3334775	NM_001288590.2(ZKSCAN7):c.1066A>G (p.Lys356Glu)	ZKSCAN7, ZKSCAN7-AS1 (K205E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2491731	NM_001288590.2(ZKSCAN7):c.1114G>A (p.Glu372Lys)	ZKSCAN7, ZKSCAN7-AS1 (E372K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398857	NM_001288590.2(ZKSCAN7):c.1166G>T (p.Gly389Val)	ZKSCAN7, ZKSCAN7-AS1 (G238V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246965	NM_001288590.2(ZKSCAN7):c.1191C>A (p.His397Gln)	ZKSCAN7, ZKSCAN7-AS1 (H246Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193681	NM_001288590.2(ZKSCAN7):c.1268C>T (p.Thr423Ile)	ZKSCAN7, ZKSCAN7-AS1 (T272I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324714	NM_001288590.2(ZKSCAN7):c.1282G>A (p.Val428Ile)	ZKSCAN7, ZKSCAN7-AS1 (V277I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193682	NM_001288590.2(ZKSCAN7):c.1340C>T (p.Ala447Val)	ZKSCAN7, ZKSCAN7-AS1 (A296V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334771	NM_001288590.2(ZKSCAN7):c.1376G>A (p.Arg459Lys)	ZKSCAN7, ZKSCAN7-AS1 (R308K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193683	NM_001288590.2(ZKSCAN7):c.1388G>A (p.Gly463Glu)	ZKSCAN7, ZKSCAN7-AS1 (G463E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529173	NM_001288590.2(ZKSCAN7):c.1400A>T (p.Tyr467Phe)	ZKSCAN7, ZKSCAN7-AS1 (Y467F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531147	NM_001288590.2(ZKSCAN7):c.1420A>G (p.Lys474Glu)	ZKSCAN7, ZKSCAN7-AS1 (K323E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193685	NM_001288590.2(ZKSCAN7):c.1499G>A (p.Cys500Tyr)	ZKSCAN7, ZKSCAN7-AS1 (C349Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597540	NM_001288590.2(ZKSCAN7):c.1555G>C (p.Gly519Arg)	ZKSCAN7, ZKSCAN7-AS1 (G519R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329532	NM_001288590.2(ZKSCAN7):c.1591G>T (p.Ala531Ser)	ZKSCAN7, ZKSCAN7-AS1 (A531S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334772	NM_001288590.2(ZKSCAN7):c.1618G>T (p.Asp540Tyr)	ZKSCAN7, ZKSCAN7-AS1 (D540Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372816	NM_001288590.2(ZKSCAN7):c.1684C>T (p.Arg562Trp)	ZKSCAN7, ZKSCAN7-AS1 (R562W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193686	NM_001288590.2(ZKSCAN7):c.1685G>A (p.Arg562Gln)	ZKSCAN7, ZKSCAN7-AS1 (R562Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334765	NM_001288590.2(ZKSCAN7):c.1742G>A (p.Cys581Tyr)	ZKSCAN7-AS1, ZKSCAN7 (C581Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334777	NM_001288590.2(ZKSCAN7):c.1796G>T (p.Arg599Leu)	ZKSCAN7, ZKSCAN7-AS1 (R599L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653724	NM_001288590.2(ZKSCAN7):c.1821T>C (p.Phe607=)	ZKSCAN7, ZKSCAN7-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2473954	NM_001288590.2(ZKSCAN7):c.2081A>G (p.Asn694Ser)	ZKSCAN7, ZKSCAN7-AS1 (N694S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366221	NM_001288590.2(ZKSCAN7):c.2082T>G (p.Asn694Lys)	ZKSCAN7, ZKSCAN7-AS1 (N694K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484284	NM_001288590.2(ZKSCAN7):c.2162G>A (p.Cys721Tyr)	ZKSCAN7, ZKSCAN7-AS1 (C721Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334767	NM_001288590.2(ZKSCAN7):c.2191C>T (p.Arg731Cys)	ZKSCAN7-AS1, ZKSCAN7 (R731C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592304	NM_001288590.2(ZKSCAN7):c.2243G>T (p.Gly748Val)	ZKSCAN7, ZKSCAN7-AS1 (G748V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685915	GRCh37/hg19 3p21.31(chr3:44563378-45177006)x3	CDCP1, CLEC3B +12 more	Copy number gain	not provided	GUncertain significance
Select item 814439	GRCh37/hg19 3p21.31(chr3:44444902-45413927)x1	CDCP1, CLEC3B +16 more	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 55