ZBTB47[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2495681	NM_145166.4(ZBTB47):c.40C>G (p.Leu14Val)	ZBTB47 (L42V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514174	NM_145166.4(ZBTB47):c.49G>A (p.Val17Met)	ZBTB47 (V17M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467568	NM_145166.4(ZBTB47):c.79G>A (p.Val27Ile)	ZBTB47 (V55I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192136	NM_145166.4(ZBTB47):c.130T>A (p.Ser44Thr)	ZBTB47 (S72T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337692	NM_145166.4(ZBTB47):c.256G>A (p.Val86Ile)	ZBTB47 (V114I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393389	NM_145166.4(ZBTB47):c.380C>T (p.Pro127Leu)	ZBTB47 (P127L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686386	NM_145166.4(ZBTB47):c.407C>T (p.Pro136Leu)	ZBTB47 (P136L)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2610123	NM_145166.4(ZBTB47):c.439G>A (p.Asp147Asn)	ZBTB47 (D147N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192148	NM_145166.4(ZBTB47):c.481G>T (p.Asp161Tyr)	ZBTB47 (D161Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291975	NM_145166.4(ZBTB47):c.517A>G (p.Thr173Ala)	ZBTB47 (T201A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569857	NM_145166.4(ZBTB47):c.556C>G (p.Gln186Glu)	ZBTB47 (Q214E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605934	NM_145166.4(ZBTB47):c.677A>G (p.Tyr226Cys)	ZBTB47 (Y226C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310426	NM_145166.4(ZBTB47):c.691C>A (p.Gln231Lys)	ZBTB47 (Q231K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326515	NM_145166.4(ZBTB47):c.783A>G (p.Pro261=)	ZBTB47	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3192149	NM_145166.4(ZBTB47):c.803G>A (p.Arg268Gln)	ZBTB47 (R268Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192150	NM_145166.4(ZBTB47):c.811G>C (p.Gly271Arg)	ZBTB47 (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192151	NM_145166.4(ZBTB47):c.817C>G (p.Gln273Glu)	ZBTB47 (Q301E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192152	NM_145166.4(ZBTB47):c.882A>T (p.Glu294Asp)	ZBTB47 (E294D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321594	NM_145166.4(ZBTB47):c.954G>C (p.Glu318Asp)	ZBTB47 (E318D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336751	NM_145166.4(ZBTB47):c.956A>T (p.Glu319Val)	ZBTB47 (E347V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378340	NM_145166.4(ZBTB47):c.1070G>T (p.Gly357Val)	ZBTB47 (G357V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231451	NM_145166.4(ZBTB47):c.1074G>C (p.Lys358Asn)	ZBTB47 (K358N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516875	NM_145166.4(ZBTB47):c.1094G>A (p.Arg365Gln)	ZBTB47 (R365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599225	NM_145166.4(ZBTB47):c.1103G>A (p.Arg368Gln)	ZBTB47 (R368Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308156	NM_145166.4(ZBTB47):c.1111C>T (p.Pro371Ser)	ZBTB47 (P399S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467558	NM_145166.4(ZBTB47):c.1115C>T (p.Pro372Leu)	ZBTB47 (P400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410111	NM_145166.4(ZBTB47):c.1138C>T (p.Arg380Trp)	ZBTB47 (R380W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192133	NM_145166.4(ZBTB47):c.1142C>A (p.Ser381Tyr)	ZBTB47 (S381Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535643	NM_145166.4(ZBTB47):c.1162C>T (p.Arg388Trp)	ZBTB47 (R388W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239678	NM_145166.4(ZBTB47):c.1174G>A (p.Glu392Lys)	ZBTB47 (E392K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192134	NM_145166.4(ZBTB47):c.1186G>A (p.Ala396Thr)	ZBTB47 (A396T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592431	NM_145166.4(ZBTB47):c.1195C>T (p.Arg399Trp)	ZBTB47 (R399W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192135	NM_145166.4(ZBTB47):c.1247G>A (p.Arg416Gln)	ZBTB47 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192137	NM_145166.4(ZBTB47):c.1342C>T (p.Arg448Cys)	ZBTB47 (R448C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591056	NM_145166.4(ZBTB47):c.1358A>C (p.Lys453Thr)	ZBTB47 (K481T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723211	NM_145166.4(ZBTB47):c.1429G>A (p.Glu477Lys)	ZBTB47 (E477K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2334798	NM_145166.4(ZBTB47):c.1453G>A (p.Asp485Asn)	ZBTB47 (D513N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192139	NM_145166.4(ZBTB47):c.1463G>A (p.Arg488His)	ZBTB47 (R516H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581776	NM_145166.4(ZBTB47):c.1493C>T (p.Ala498Val)	ZBTB47 (A498V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3192140	NM_145166.4(ZBTB47):c.1527C>G (p.Asn509Lys)	ZBTB47 (N537K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192141	NM_145166.4(ZBTB47):c.1556A>T (p.Lys519Met)	ZBTB47 (K547M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192142	NM_145166.4(ZBTB47):c.1660G>A (p.Gly554Arg)	ZBTB47 (G554R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192143	NM_145166.4(ZBTB47):c.1775G>A (p.Arg592Gln)	ZBTB47 (R592Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430193	NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)	ZBTB47 (E680G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +1 more	GUncertain significance
Select item 2217657	NM_145166.4(ZBTB47):c.2042A>G (p.Lys681Arg)	ZBTB47 (K681R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192144	NM_145166.4(ZBTB47):c.2051G>C (p.Arg684Pro)	ZBTB47 (R684P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210461	NM_145166.4(ZBTB47):c.2053G>T (p.Val685Phe)	ZBTB47 (V685F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192145	NM_145166.4(ZBTB47):c.2074G>A (p.Asp692Asn)	ZBTB47 (D720N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264856	NM_145166.4(ZBTB47):c.2102C>T (p.Pro701Leu)	ZBTB47 (P701L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477917	NM_145166.4(ZBTB47):c.2104C>T (p.Pro702Ser)	ZBTB47 (P730S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290256	NM_145166.4(ZBTB47):c.2114C>A (p.Pro705His)	ZBTB47 (P705H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653711	NM_145166.4(ZBTB47):c.2124C>T (p.His708=)	ZBTB47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192147	NM_145166.4(ZBTB47):c.2171C>G (p.Pro724Arg)	ZBTB47 (P724R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361885	NM_145166.4(ZBTB47):c.2199C>G (p.Phe733Leu)	ZBTB47 (F733L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302975	NM_145166.4(ZBTB47):c.2218G>A (p.Gly740Ser)	ZBTB47 (G768S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581778	NM_145166.4(ZBTB47):c.2232_2233insAACTAGCTGCCAACAACTAGCT (p.Ala745delinsAsnTer)	ZBTB47	Insertion (nonsense)	not provided	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	POMGNT2, SEC22C +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +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: 62