ClinVar for Gene (Select 253461) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333923	NM_001376113.1(ZBTB38):c.2365C>T (p.Pro789Ser)	ZBTB38 (P789S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333922	NM_001376113.1(ZBTB38):c.2587G>C (p.Gly863Arg)	ZBTB38 (G863R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333920	NM_001376113.1(ZBTB38):c.928C>G (p.Pro310Ala)	ZBTB38 (P310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333919	NM_001376113.1(ZBTB38):c.2152G>A (p.Val718Ile)	ZBTB38 (V718I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333918	NM_001376113.1(ZBTB38):c.1259G>T (p.Gly420Val)	ZBTB38 (G420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247002	NC_000003.11:g.(?_141102833)_(142184102_?)del	ATP1B3, ATR +7 more	Deletion	not provided	GUncertain significance
Select item 3192040	NM_001376113.1(ZBTB38):c.86G>A (p.Arg29Gln)	ZBTB38 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192038	NM_001376113.1(ZBTB38):c.373C>T (p.Arg125Cys)	ZBTB38 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192037	NM_001376113.1(ZBTB38):c.3385C>G (p.Gln1129Glu)	ZBTB38 (Q1129E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192036	NM_001376113.1(ZBTB38):c.2893G>A (p.Ala965Thr)	ZBTB38 (A965T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192035	NM_001376113.1(ZBTB38):c.2843C>T (p.Pro948Leu)	ZBTB38 (P948L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192034	NM_001376113.1(ZBTB38):c.2435C>A (p.Thr812Asn)	ZBTB38 (T812N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192033	NM_001376113.1(ZBTB38):c.2366C>T (p.Pro789Leu)	ZBTB38 (P789L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192032	NM_001376113.1(ZBTB38):c.2231T>C (p.Phe744Ser)	ZBTB38 (F744S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192031	NM_001376113.1(ZBTB38):c.2110G>A (p.Ala704Thr)	ZBTB38 (A704T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192030	NM_001376113.1(ZBTB38):c.2059C>T (p.Arg687Trp)	ZBTB38 (R687W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192029	NM_001376113.1(ZBTB38):c.2005T>C (p.Tyr669His)	ZBTB38 (Y669H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192028	NM_001376113.1(ZBTB38):c.1799C>G (p.Pro600Arg)	ZBTB38 (P600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192027	NM_001376113.1(ZBTB38):c.1397A>G (p.Lys466Arg)	ZBTB38 (K466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192026	NM_001376113.1(ZBTB38):c.1372A>G (p.Met458Val)	ZBTB38 (M458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192025	NM_001376113.1(ZBTB38):c.1064C>T (p.Thr355Ile)	ZBTB38 (T355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2654198	NM_001376113.1(ZBTB38):c.1844C>T (p.Thr615Met)	ZBTB38 (T615M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620815	NM_001376113.1(ZBTB38):c.2903A>G (p.Asp968Gly)	ZBTB38 (D968G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611557	NM_001376113.1(ZBTB38):c.2294G>A (p.Gly765Asp)	ZBTB38 (G765D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596604	NM_001376113.1(ZBTB38):c.1321G>A (p.Gly441Arg)	ZBTB38 (G441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594677	NM_001376113.1(ZBTB38):c.907G>A (p.Val303Ile)	ZBTB38 (V303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558169	NM_001376113.1(ZBTB38):c.1169A>T (p.Glu390Val)	ZBTB38 (E390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543374	NM_001376113.1(ZBTB38):c.1220G>A (p.Arg407His)	ZBTB38 (R407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531313	NM_001376113.1(ZBTB38):c.1769G>A (p.Arg590Gln)	ZBTB38 (R590Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526507	NM_001376113.1(ZBTB38):c.2099G>A (p.Ser700Asn)	ZBTB38 (S700N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509746	NM_001376113.1(ZBTB38):c.1937A>G (p.Asn646Ser)	ZBTB38 (N646S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481356	NM_001376113.1(ZBTB38):c.1016C>T (p.Pro339Leu)	ZBTB38 (P339L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472698	NM_001376113.1(ZBTB38):c.2993A>G (p.Gln998Arg)	ZBTB38 (Q998R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471138	NM_001376113.1(ZBTB38):c.1745G>A (p.Arg582Gln)	ZBTB38 (R582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466200	NM_001376113.1(ZBTB38):c.1864G>A (p.Val622Ile)	ZBTB38 (V622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461943	NM_001376113.1(ZBTB38):c.1849A>G (p.Asn617Asp)	ZBTB38 (N617D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392122	NM_001376113.1(ZBTB38):c.1108C>A (p.Pro370Thr)	ZBTB38 (P370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390673	NM_001376113.1(ZBTB38):c.824C>T (p.Ser275Leu)	ZBTB38 (S275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379654	NM_001376113.1(ZBTB38):c.1718G>C (p.Cys573Ser)	ZBTB38 (C573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371514	NM_001376113.1(ZBTB38):c.1795G>A (p.Ala599Thr)	ZBTB38 (A599T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365939	NM_001376113.1(ZBTB38):c.3565G>A (p.Gly1189Ser)	ZBTB38 (G1189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355560	NM_001376113.1(ZBTB38):c.2893G>C (p.Ala965Pro)	ZBTB38 (A965P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329044	NM_001376113.1(ZBTB38):c.1586A>G (p.Tyr529Cys)	ZBTB38 (Y529C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320615	NM_001376113.1(ZBTB38):c.2788C>G (p.Gln930Glu)	ZBTB38 (Q930E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319749	NM_001376113.1(ZBTB38):c.563G>A (p.Ser188Asn)	ZBTB38 (S188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299715	NM_001376113.1(ZBTB38):c.1163G>A (p.Arg388Gln)	ZBTB38 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299369	NM_001376113.1(ZBTB38):c.1100C>T (p.Thr367Ile)	ZBTB38 (T367I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299288	NM_001376113.1(ZBTB38):c.1246G>A (p.Gly416Arg)	ZBTB38 (G416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294263	NM_001376113.1(ZBTB38):c.79C>G (p.Arg27Gly)	ZBTB38 (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282700	NM_001376113.1(ZBTB38):c.3539A>G (p.Asn1180Ser)	ZBTB38 (N1180S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216596	NM_001376113.1(ZBTB38):c.641C>A (p.Pro214His)	ZBTB38 (P214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207455	NM_001376113.1(ZBTB38):c.2536G>A (p.Glu846Lys)	ZBTB38 (E846K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980064	GRCh37/hg19 3q23(chr3:140829421-141154102)x1	SPSB4, ZBTB38 +1 more	Copy number loss	not provided	GUncertain significance
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 785067	NM_001376113.1(ZBTB38):c.3531A>G (p.Ser1177=)	ZBTB38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785066	NM_001376113.1(ZBTB38):c.633G>C (p.Glu211Asp)	ZBTB38 (E211D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778117	NM_001376113.1(ZBTB38):c.2745G>A (p.Pro915=)	ZBTB38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778116	NM_001376113.1(ZBTB38):c.2425G>A (p.Ala809Thr)	ZBTB38 (A809T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 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 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 77