ZBTB10[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +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	LOC130000602, LOC130000603 +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	LOC130001211, LOC130001212 +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	LOC130001139, LOC130001140 +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)	not specified	GUncertain significance
Select item 2534756	NM_001105539.3(ZBTB10):c.79A>G (p.Thr27Ala)	ZBTB10 (T27A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534757	NM_001105539.3(ZBTB10):c.80C>T (p.Thr27Met)	ZBTB10 (T27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376613	NM_001105539.3(ZBTB10):c.86A>G (p.Asn29Ser)	ZBTB10 (N29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210168	NM_001105539.3(ZBTB10):c.90C>A (p.Asn30Lys)	ZBTB10 (N30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191864	NM_001105539.3(ZBTB10):c.140C>A (p.Pro47His)	ZBTB10 (P47H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542126	NM_001105539.3(ZBTB10):c.145C>T (p.Pro49Ser)	ZBTB10 (P49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240632	NM_001105539.3(ZBTB10):c.149C>T (p.Pro50Leu)	ZBTB10 (P50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510635	NM_001105539.3(ZBTB10):c.182G>T (p.Arg61Leu)	ZBTB10 (R61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191867	NM_001105539.3(ZBTB10):c.212G>A (p.Gly71Asp)	LOC130000664, ZBTB10 (G71D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483518	NM_001105539.3(ZBTB10):c.217G>A (p.Glu73Lys)	LOC130000664, ZBTB10 (E73K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245701	NM_001105539.3(ZBTB10):c.233A>T (p.Glu78Val)	LOC130000664, ZBTB10 (E78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191868	NM_001105539.3(ZBTB10):c.236C>T (p.Ala79Val)	LOC130000664, ZBTB10 (A79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347379	NM_001105539.3(ZBTB10):c.239C>T (p.Ser80Phe)	ZBTB10, LOC130000664 (S80F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222123	NM_001105539.3(ZBTB10):c.322G>A (p.Gly108Ser)	ZBTB10 (G108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353637	NM_001105539.3(ZBTB10):c.346G>C (p.Ala116Pro)	ZBTB10 (A116P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191870	NM_001105539.3(ZBTB10):c.385G>A (p.Gly129Ser)	ZBTB10 (G129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191871	NM_001105539.3(ZBTB10):c.445C>A (p.Pro149Thr)	ZBTB10 (P149T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564743	NM_001105539.3(ZBTB10):c.461A>G (p.Asn154Ser)	ZBTB10 (N154S)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2534752	NM_001105539.3(ZBTB10):c.478A>G (p.Thr160Ala)	ZBTB10 (T160A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534753	NM_001105539.3(ZBTB10):c.486T>G (p.Asp162Glu)	ZBTB10 (D162E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191872	NM_001105539.3(ZBTB10):c.497A>T (p.Asp166Val)	ZBTB10 (D166V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534754	NM_001105539.3(ZBTB10):c.524A>C (p.Gln175Pro)	ZBTB10 (Q175P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352636	NM_001105539.3(ZBTB10):c.590G>A (p.Ser197Asn)	ZBTB10 (S197N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191873	NM_001105539.3(ZBTB10):c.704C>G (p.Pro235Arg)	ZBTB10 (P235R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256043	NM_001105539.3(ZBTB10):c.704C>T (p.Pro235Leu)	ZBTB10 (P235L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534755	NM_001105539.3(ZBTB10):c.757T>G (p.Ser253Ala)	ZBTB10 (S253A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512202	NM_001105539.3(ZBTB10):c.859C>T (p.Leu287Phe)	ZBTB10 (L287F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191874	NM_001105539.3(ZBTB10):c.865C>T (p.Pro289Ser)	ZBTB10 (P289S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191875	NM_001105539.3(ZBTB10):c.914C>T (p.Thr305Ile)	ZBTB10 (T305I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291703	NM_001105539.3(ZBTB10):c.961G>A (p.Ala321Thr)	ZBTB10 (A321T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191862	NM_001105539.3(ZBTB10):c.1020G>C (p.Arg340Ser)	ZBTB10 (R340S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191863	NM_001105539.3(ZBTB10):c.1391A>G (p.Asn464Ser)	ZBTB10 (N172S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308716	NM_001105539.3(ZBTB10):c.1566T>G (p.Asn522Lys)	ZBTB10 (N230K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368497	NM_001105539.3(ZBTB10):c.1643A>G (p.Glu548Gly)	ZBTB10 (E256G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370810	NM_001105539.3(ZBTB10):c.1715G>T (p.Gly572Val)	ZBTB10 (G280V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191865	NM_001105539.3(ZBTB10):c.1868A>G (p.Asp623Gly)	ZBTB10 (D331G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462550	NM_001105539.3(ZBTB10):c.1876C>G (p.Leu626Val)	ZBTB10 (L334V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616544	NM_001105539.3(ZBTB10):c.1886G>A (p.Gly629Glu)	ZBTB10 (G337E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191866	NM_001105539.3(ZBTB10):c.1895G>A (p.Gly632Asp)	ZBTB10 (G340D +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2204601	NM_001105539.3(ZBTB10):c.2556T>A (p.Asp852Glu)	ZBTB10 (D560E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191869	NM_001105539.3(ZBTB10):c.2608G>C (p.Asp870His)	ZBTB10 (D846H +2 more)	Single nucleotide variant (missense variant)	not specified	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	KCNQ3, KCNS2 +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	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +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

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Items: 82