ZBTB10[gene] - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1245018	NM_001105539.3(ZBTB10):c.5_7del (p.Ser2del)	ZBTB10 (S2del)	Deletion (inframe_deletion +2 more)	not provided	GBenign
Select item 2535254	NM_001105539.3(ZBTB10):c.77C>T (p.Ser26Phe)	ZBTB10 (S26F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534756	NM_001105539.3(ZBTB10):c.79A>G (p.Thr27Ala)	ZBTB10 (T27A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534757	NM_001105539.3(ZBTB10):c.80C>T (p.Thr27Met)	ZBTB10 (T27M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376613	NM_001105539.3(ZBTB10):c.86A>G (p.Asn29Ser)	ZBTB10 (N29S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210168	NM_001105539.3(ZBTB10):c.90C>A (p.Asn30Lys)	ZBTB10 (N30K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542126	NM_001105539.3(ZBTB10):c.145C>T (p.Pro49Ser)	ZBTB10 (P49S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240632	NM_001105539.3(ZBTB10):c.149C>T (p.Pro50Leu)	ZBTB10 (P50L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510635	NM_001105539.3(ZBTB10):c.182G>T (p.Arg61Leu)	ZBTB10 (R61L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483518	NM_001105539.3(ZBTB10):c.217G>A (p.Glu73Lys)	LOC130000664, ZBTB10 (E73K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245701	NM_001105539.3(ZBTB10):c.233A>T (p.Glu78Val)	LOC130000664, ZBTB10 (E78V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347379	NM_001105539.3(ZBTB10):c.239C>T (p.Ser80Phe)	LOC130000664, ZBTB10 (S80F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222123	NM_001105539.3(ZBTB10):c.322G>A (p.Gly108Ser)	ZBTB10 (G108S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353637	NM_001105539.3(ZBTB10):c.346G>C (p.Ala116Pro)	ZBTB10 (A116P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2564743	NM_001105539.3(ZBTB10):c.461A>G (p.Asn154Ser)	ZBTB10 (N154S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1684521	NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter)	ZBTB10 (R156*)	Single nucleotide variant (nonsense +1 more)	Astigmatism +7 more	GUncertain significance
Select item 2542202	NM_001105539.3(ZBTB10):c.473C>A (p.Pro158Gln)	ZBTB10 (P158Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534752	NM_001105539.3(ZBTB10):c.478A>G (p.Thr160Ala)	ZBTB10 (T160A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534753	NM_001105539.3(ZBTB10):c.486T>G (p.Asp162Glu)	ZBTB10 (D162E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534754	NM_001105539.3(ZBTB10):c.524A>C (p.Gln175Pro)	ZBTB10 (Q175P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352636	NM_001105539.3(ZBTB10):c.590G>A (p.Ser197Asn)	ZBTB10 (S197N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256043	NM_001105539.3(ZBTB10):c.704C>T (p.Pro235Leu)	ZBTB10 (P235L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534755	NM_001105539.3(ZBTB10):c.757T>G (p.Ser253Ala)	ZBTB10 (S253A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512202	NM_001105539.3(ZBTB10):c.859C>T (p.Leu287Phe)	ZBTB10 (L287F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291703	NM_001105539.3(ZBTB10):c.961G>A (p.Ala321Thr)	ZBTB10 (A321T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308716	NM_001105539.3(ZBTB10):c.1566T>G (p.Asn522Lys)	ZBTB10 (N230K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368497	NM_001105539.3(ZBTB10):c.1643A>G (p.Glu548Gly)	ZBTB10 (E256G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370810	NM_001105539.3(ZBTB10):c.1715G>T (p.Gly572Val)	ZBTB10 (G280V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462550	NM_001105539.3(ZBTB10):c.1876C>G (p.Leu626Val)	ZBTB10 (L334V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616544	NM_001105539.3(ZBTB10):c.1886G>A (p.Gly629Glu)	ZBTB10 (G337E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592448	NM_001105539.3(ZBTB10):c.2054A>C (p.Tyr685Ser)	ZBTB10 (Y393S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204601	NM_001105539.3(ZBTB10):c.2556T>A (p.Asp852Glu)	ZBTB10 (D560E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1807951	GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3	CHMP4C, FABP12 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527442	GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)	CRISPLD1, GDAP1 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442424	GRCh37/hg19 8q21.13(chr8:80883771-81650440)x3	MRPS28, TPD52 +2 more	Copy number gain	See cases	GLikely benign
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68