ClinVar for Gene (Select 9880) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352071	NM_014830.3(ZBTB39):c.2092A>C (p.Met698Leu)	ZBTB39 (M698L)	Single nucleotide variant (missense variant)	ZBTB39-related condition	GUncertain significance
Select item 3333929	NM_014830.3(ZBTB39):c.1031C>T (p.Pro344Leu)	ZBTB39 (P344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333928	NM_014830.3(ZBTB39):c.695C>T (p.Thr232Ile)	ZBTB39 (T232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333927	NM_014830.3(ZBTB39):c.1256G>A (p.Arg419Gln)	ZBTB39 (R419Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333926	NM_014830.3(ZBTB39):c.1259G>A (p.Arg420Gln)	ZBTB39 (R420Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333925	NM_014830.3(ZBTB39):c.1212G>A (p.Met404Ile)	ZBTB39 (M404I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333924	NM_014830.3(ZBTB39):c.667A>G (p.Ser223Gly)	ZBTB39 (S223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3192048	NM_014830.3(ZBTB39):c.909C>G (p.Asp303Glu)	ZBTB39 (D303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192047	NM_014830.3(ZBTB39):c.884A>T (p.Gln295Leu)	ZBTB39 (Q295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192045	NM_014830.3(ZBTB39):c.2066C>G (p.Pro689Arg)	ZBTB39 (P689R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192044	NM_014830.3(ZBTB39):c.1915C>T (p.His639Tyr)	ZBTB39 (H639Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192043	NM_014830.3(ZBTB39):c.1412T>C (p.Ile471Thr)	ZBTB39 (I471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192042	NM_014830.3(ZBTB39):c.1258C>T (p.Arg420Trp)	ZBTB39 (R420W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192041	NM_014830.3(ZBTB39):c.1091G>A (p.Arg364Gln)	ZBTB39 (R364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616094	NM_014830.3(ZBTB39):c.971A>G (p.Asp324Gly)	ZBTB39 (D324G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604042	NM_014830.3(ZBTB39):c.599C>T (p.Pro200Leu)	ZBTB39 (P200L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589204	NM_014830.3(ZBTB39):c.929C>T (p.Ala310Val)	ZBTB39 (A310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569069	NM_014830.3(ZBTB39):c.1462C>T (p.Arg488Cys)	ZBTB39 (R488C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568684	NM_014830.3(ZBTB39):c.605C>T (p.Pro202Leu)	ZBTB39 (P202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545339	NM_014830.3(ZBTB39):c.362C>G (p.Thr121Ser)	ZBTB39 (T121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543310	NM_014830.3(ZBTB39):c.714G>C (p.Gln238His)	ZBTB39 (Q238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543309	NM_014830.3(ZBTB39):c.404C>A (p.Thr135Asn)	ZBTB39 (T135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539023	NM_014830.3(ZBTB39):c.1535T>C (p.Val512Ala)	ZBTB39 (V512A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538590	NM_014830.3(ZBTB39):c.704C>T (p.Thr235Met)	ZBTB39 (T235M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524530	NM_014830.3(ZBTB39):c.736C>T (p.Pro246Ser)	ZBTB39 (P246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511348	NM_014830.3(ZBTB39):c.1664A>C (p.Tyr555Ser)	ZBTB39 (Y555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510921	NM_014830.3(ZBTB39):c.494A>G (p.Tyr165Cys)	ZBTB39 (Y165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2484454	NM_014830.3(ZBTB39):c.731G>T (p.Cys244Phe)	ZBTB39 (C244F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412392	NM_014830.3(ZBTB39):c.1151G>A (p.Arg384Gln)	ZBTB39 (R384Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399633	NM_014830.3(ZBTB39):c.359C>T (p.Ser120Phe)	ZBTB39 (S120F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399381	NM_014830.3(ZBTB39):c.1012C>T (p.Arg338Trp)	ZBTB39 (R338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395847	NM_014830.3(ZBTB39):c.1090C>G (p.Arg364Gly)	ZBTB39 (R364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390045	NM_014830.3(ZBTB39):c.670A>C (p.Met224Leu)	ZBTB39 (M224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390044	NM_014830.3(ZBTB39):c.1336G>A (p.Ala446Thr)	ZBTB39 (A446T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379883	NM_014830.3(ZBTB39):c.1790A>G (p.Gln597Arg)	ZBTB39 (Q597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358257	NM_014830.3(ZBTB39):c.508A>G (p.Arg170Gly)	ZBTB39 (R170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346111	NM_014830.3(ZBTB39):c.1015G>A (p.Glu339Lys)	ZBTB39 (E339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343050	NM_014830.3(ZBTB39):c.722C>T (p.Thr241Met)	ZBTB39 (T241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329295	NM_014830.3(ZBTB39):c.1923C>A (p.Phe641Leu)	ZBTB39 (F641L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317031	NM_014830.3(ZBTB39):c.265A>T (p.Thr89Ser)	ZBTB39 (T89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301992	NM_014830.3(ZBTB39):c.848C>T (p.Ser283Phe)	ZBTB39 (S283F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287511	NM_014830.3(ZBTB39):c.2129C>T (p.Pro710Leu)	ZBTB39 (P710L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281191	NM_014830.3(ZBTB39):c.502G>T (p.Ala168Ser)	ZBTB39 (A168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277508	NM_014830.3(ZBTB39):c.1852A>G (p.Ser618Gly)	ZBTB39 (S618G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274990	NM_014830.3(ZBTB39):c.1227C>G (p.Phe409Leu)	ZBTB39 (F409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226847	NM_014830.3(ZBTB39):c.479G>T (p.Arg160Leu)	ZBTB39 (R160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210874	NM_014830.3(ZBTB39):c.1967C>T (p.Ser656Leu)	ZBTB39 (S656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204460	NM_014830.3(ZBTB39):c.752G>A (p.Ser251Asn)	ZBTB39 (S251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55