ZNF512B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 57315	GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3	ABHD16B, C20orf181 +63 more	Copy number gain	See cases	GUncertain significance
Select item 3046525	NM_020713.3(ZNF512B):c.*9C>T	ZNF512B	Single nucleotide variant (3 prime UTR variant)	ZNF512B-related disorder	GLikely benign
Select item 3196309	NM_020713.3(ZNF512B):c.2650G>A (p.Val884Met)	ZNF512B (V884M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196308	NM_020713.3(ZNF512B):c.2591G>A (p.Arg864Gln)	ZNF512B (R864Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196307	NM_020713.3(ZNF512B):c.2590C>T (p.Arg864Trp)	ZNF512B (R864W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281962	NM_020713.3(ZNF512B):c.2585C>T (p.Pro862Leu)	ZNF512B (P862L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554138	NM_020713.3(ZNF512B):c.2551C>T (p.Arg851Trp)	ZNF512B (R851W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196306	NM_020713.3(ZNF512B):c.2474A>G (p.Gln825Arg)	ZNF512B (Q825R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059327	NM_020713.3(ZNF512B):c.2460C>T (p.Pro820=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GBenign
Select item 2533180	NM_020713.3(ZNF512B):c.2437C>G (p.Arg813Gly)	ZNF512B (R813G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196305	NM_020713.3(ZNF512B):c.2353C>T (p.Arg785Cys)	ZNF512B (R785C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196304	NM_020713.3(ZNF512B):c.2333C>T (p.Ala778Val)	ZNF512B (A778V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049856	NM_020713.3(ZNF512B):c.2332G>T (p.Ala778Ser)	ZNF512B (A778S)	Single nucleotide variant (missense variant)	ZNF512B-related disorder	GLikely benign
Select item 2598953	NM_020713.3(ZNF512B):c.2192C>T (p.Thr731Met)	ZNF512B (T731M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055650	NM_020713.3(ZNF512B):c.2187C>T (p.Leu729=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GBenign
Select item 2232332	NM_020713.3(ZNF512B):c.2161C>T (p.Arg721Trp)	ZNF512B (R721W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052187	NM_020713.3(ZNF512B):c.2151C>T (p.Pro717=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GLikely benign
Select item 2380176	NM_020713.3(ZNF512B):c.2126G>A (p.Arg709Gln)	ZNF512B (R709Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048867	NM_020713.3(ZNF512B):c.2112C>T (p.Arg704=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GLikely benign
Select item 3041998	NM_020713.3(ZNF512B):c.2055G>A (p.Thr685=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GLikely benign
Select item 1234322	NM_020713.3(ZNF512B):c.1969-113C>T	ZNF512B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652563	NM_020713.3(ZNF512B):c.1962G>A (p.Thr654=)	ZNF512B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308942	NM_020713.3(ZNF512B):c.1936G>A (p.Asp646Asn)	ZNF512B (D646N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533491	NM_020713.3(ZNF512B):c.1913C>G (p.Thr638Arg)	ZNF512B (T638R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464134	NM_020713.3(ZNF512B):c.1862C>T (p.Pro621Leu)	ZNF512B (P621L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652564	NM_020713.3(ZNF512B):c.1830C>T (p.Gly610=)	ZNF512B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037319	NM_020713.3(ZNF512B):c.1779G>T (p.Arg593=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GBenign
Select item 3196301	NM_020713.3(ZNF512B):c.1742G>A (p.Arg581His)	ZNF512B (R581H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196300	NM_020713.3(ZNF512B):c.1712A>C (p.Glu571Ala)	ZNF512B (E571A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304612	NM_020713.3(ZNF512B):c.1580A>G (p.Lys527Arg)	ZNF512B (K527R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059781	NM_020713.3(ZNF512B):c.1578T>C (p.Leu526=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GBenign
Select item 2386323	NM_020713.3(ZNF512B):c.1570G>A (p.Val524Met)	ZNF512B (V524M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382981	NM_020713.3(ZNF512B):c.1540A>G (p.Thr514Ala)	ZNF512B (T514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196299	NM_020713.3(ZNF512B):c.1532T>G (p.Val511Gly)	ZNF512B (V511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196298	NM_020713.3(ZNF512B):c.1446G>T (p.Lys482Asn)	ZNF512B (K482N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406475	NM_020713.3(ZNF512B):c.1405G>A (p.Ala469Thr)	ZNF512B (A469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059672	NM_020713.3(ZNF512B):c.1357G>A (p.Ala453Thr)	ZNF512B (A453T)	Single nucleotide variant (missense variant)	ZNF512B-related disorder	GBenign
Select item 2282611	NM_020713.3(ZNF512B):c.1249C>T (p.Arg417Cys)	ZNF512B (R417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039413	NM_020713.3(ZNF512B):c.1222G>A (p.Ala408Thr)	ZNF512B (A408T)	Single nucleotide variant (missense variant)	ZNF512B-related disorder	GBenign
Select item 3196296	NM_020713.3(ZNF512B):c.1219C>T (p.Pro407Ser)	ZNF512B (P407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455187	NM_020713.3(ZNF512B):c.1202C>T (p.Ala401Val)	ZNF512B (A401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334964	NM_020713.3(ZNF512B):c.1192G>A (p.Gly398Ser)	ZNF512B (G398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489680	NM_020713.3(ZNF512B):c.1178G>A (p.Ser393Asn)	ZNF512B (S393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060619	NM_020713.3(ZNF512B):c.1114A>G (p.Met372Val)	ZNF512B (M372V)	Single nucleotide variant (missense variant)	ZNF512B-related disorder	GBenign
Select item 3035032	NM_020713.3(ZNF512B):c.957G>A (p.Pro319=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GBenign
Select item 2481924	NM_020713.3(ZNF512B):c.914C>T (p.Pro305Leu)	ZNF512B (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326394	NM_020713.3(ZNF512B):c.866C>T (p.Pro289Leu)	ZNF512B (P289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059862	NM_020713.3(ZNF512B):c.862G>A (p.Val288Met)	ZNF512B (V288M)	Single nucleotide variant (missense variant)	ZNF512B-related disorder	GBenign
Select item 3196321	NM_020713.3(ZNF512B):c.854C>T (p.Thr285Met)	ZNF512B (T285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496496	NM_020713.3(ZNF512B):c.841C>T (p.Leu281Phe)	ZNF512B (L281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263875	NM_020713.3(ZNF512B):c.838A>C (p.Lys280Gln)	ZNF512B (K280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059501	NM_020713.3(ZNF512B):c.834A>C (p.Val278=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GBenign
Select item 3196320	NM_020713.3(ZNF512B):c.806C>T (p.Pro269Leu)	ZNF512B (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045047	NM_020713.3(ZNF512B):c.675C>T (p.Thr225=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GLikely benign
Select item 2617211	NM_020713.3(ZNF512B):c.614G>A (p.Gly205Asp)	ZNF512B (G205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196319	NM_020713.3(ZNF512B):c.608C>A (p.Pro203His)	ZNF512B (P203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196315	NM_020713.3(ZNF512B):c.586A>G (p.Lys196Glu)	ZNF512B (K196E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196314	NM_020713.3(ZNF512B):c.577G>A (p.Gly193Arg)	ZNF512B (G193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049384	NM_020713.3(ZNF512B):c.576C>A (p.Ile192=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GLikely benign
Select item 3038137	NM_020713.3(ZNF512B):c.532A>G (p.Arg178Gly)	ZNF512B (R178G)	Single nucleotide variant (missense variant)	ZNF512B-related disorder	GLikely benign
Select item 2469334	NM_020713.3(ZNF512B):c.497G>A (p.Arg166Gln)	ZNF512B (R166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196313	NM_020713.3(ZNF512B):c.486C>A (p.Asn162Lys)	ZNF512B (N162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596175	NM_020713.3(ZNF512B):c.476G>A (p.Arg159Gln)	ZNF512B (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044196	NM_020713.3(ZNF512B):c.435C>T (p.Cys145=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GLikely benign
Select item 3196312	NM_020713.3(ZNF512B):c.422C>G (p.Pro141Arg)	ZNF512B (P141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304613	NM_020713.3(ZNF512B):c.410G>A (p.Arg137His)	ZNF512B (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488796	NM_020713.3(ZNF512B):c.348C>G (p.Phe116Leu)	ZNF512B (F116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215087	NM_020713.3(ZNF512B):c.329C>T (p.Ser110Leu)	ZNF512B (S110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042777	NM_020713.3(ZNF512B):c.279C>T (p.Asn93=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GLikely benign
Select item 2402616	NM_020713.3(ZNF512B):c.242A>C (p.Asn81Thr)	ZNF512B (N81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535611	NM_020713.3(ZNF512B):c.223G>C (p.Gly75Arg)	ZNF512B (G75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196303	NM_020713.3(ZNF512B):c.222G>T (p.Lys74Asn)	ZNF512B (K74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488288	NM_020713.3(ZNF512B):c.217A>C (p.Lys73Gln)	ZNF512B (K73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060013	NM_020713.3(ZNF512B):c.183G>A (p.Pro61=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related disorder	GBenign
Select item 3196302	NM_020713.3(ZNF512B):c.182C>T (p.Pro61Leu)	ZNF512B (P61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196297	NM_020713.3(ZNF512B):c.137G>A (p.Arg46His)	ZNF512B (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196295	NM_020713.3(ZNF512B):c.112C>T (p.Pro38Ser)	ZNF512B (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196311	NM_020713.3(ZNF512B):c.32G>T (p.Arg11Leu)	ZNF512B (R11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2425821	NC_000020.10:g.(?_62559699)_(62680869_?)dup	DNAJC5, PRPF6 +4 more	Duplication	not provided	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance

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