ClinVar for Gene (Select 57473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060619	NM_020713.3(ZNF512B):c.1114A>G (p.Met372Val)	ZNF512B (M372V)	Single nucleotide variant (missense variant)	ZNF512B-related condition	GBenign
Select item 3060013	NM_020713.3(ZNF512B):c.183G>A (p.Pro61=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GBenign
Select item 3059862	NM_020713.3(ZNF512B):c.862G>A (p.Val288Met)	ZNF512B (V288M)	Single nucleotide variant (missense variant)	ZNF512B-related condition	GBenign
Select item 3059781	NM_020713.3(ZNF512B):c.1578T>C (p.Leu526=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GBenign
Select item 3059672	NM_020713.3(ZNF512B):c.1357G>A (p.Ala453Thr)	ZNF512B (A453T)	Single nucleotide variant (missense variant)	ZNF512B-related condition	GBenign
Select item 3059501	NM_020713.3(ZNF512B):c.834A>C (p.Val278=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GBenign
Select item 3059327	NM_020713.3(ZNF512B):c.2460C>T (p.Pro820=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GBenign
Select item 3055650	NM_020713.3(ZNF512B):c.2187C>T (p.Leu729=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GBenign
Select item 3052187	NM_020713.3(ZNF512B):c.2151C>T (p.Pro717=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GLikely benign
Select item 3049856	NM_020713.3(ZNF512B):c.2332G>T (p.Ala778Ser)	ZNF512B (A778S)	Single nucleotide variant (missense variant)	ZNF512B-related condition	GLikely benign
Select item 3049384	NM_020713.3(ZNF512B):c.576C>A (p.Ile192=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GLikely benign
Select item 3048867	NM_020713.3(ZNF512B):c.2112C>T (p.Arg704=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GLikely benign
Select item 3046525	NM_020713.3(ZNF512B):c.*9C>T	ZNF512B	Single nucleotide variant (3 prime UTR variant)	ZNF512B-related condition	GLikely benign
Select item 3045047	NM_020713.3(ZNF512B):c.675C>T (p.Thr225=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GLikely benign
Select item 3044196	NM_020713.3(ZNF512B):c.435C>T (p.Cys145=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GLikely benign
Select item 3042777	NM_020713.3(ZNF512B):c.279C>T (p.Asn93=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GLikely benign
Select item 3041998	NM_020713.3(ZNF512B):c.2055G>A (p.Thr685=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GLikely benign
Select item 3039413	NM_020713.3(ZNF512B):c.1222G>A (p.Ala408Thr)	ZNF512B (A408T)	Single nucleotide variant (missense variant)	ZNF512B-related condition	GBenign
Select item 3038137	NM_020713.3(ZNF512B):c.532A>G (p.Arg178Gly)	ZNF512B (R178G)	Single nucleotide variant (missense variant)	ZNF512B-related condition	GLikely benign
Select item 3037319	NM_020713.3(ZNF512B):c.1779G>T (p.Arg593=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GBenign
Select item 3035032	NM_020713.3(ZNF512B):c.957G>A (p.Pro319=)	ZNF512B	Single nucleotide variant (synonymous variant)	ZNF512B-related condition	GBenign
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 2652564	NM_020713.3(ZNF512B):c.1830C>T (p.Gly610=)	ZNF512B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652563	NM_020713.3(ZNF512B):c.1962G>A (p.Thr654=)	ZNF512B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617211	NM_020713.3(ZNF512B):c.614G>A (p.Gly205Asp)	ZNF512B (G205D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598953	NM_020713.3(ZNF512B):c.2192C>T (p.Thr731Met)	ZNF512B (T731M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596175	NM_020713.3(ZNF512B):c.476G>A (p.Arg159Gln)	ZNF512B (R159Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2554138	NM_020713.3(ZNF512B):c.2551C>T (p.Arg851Trp)	ZNF512B (R851W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535611	NM_020713.3(ZNF512B):c.223G>C (p.Gly75Arg)	ZNF512B (G75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533491	NM_020713.3(ZNF512B):c.1913C>G (p.Thr638Arg)	ZNF512B (T638R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533180	NM_020713.3(ZNF512B):c.2437C>G (p.Arg813Gly)	ZNF512B (R813G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496496	NM_020713.3(ZNF512B):c.841C>T (p.Leu281Phe)	ZNF512B (L281F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489680	NM_020713.3(ZNF512B):c.1178G>A (p.Ser393Asn)	ZNF512B (S393N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488796	NM_020713.3(ZNF512B):c.348C>G (p.Phe116Leu)	ZNF512B (F116L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488288	NM_020713.3(ZNF512B):c.217A>C (p.Lys73Gln)	ZNF512B (K73Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481924	NM_020713.3(ZNF512B):c.914C>T (p.Pro305Leu)	ZNF512B (P305L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469334	NM_020713.3(ZNF512B):c.497G>A (p.Arg166Gln)	ZNF512B (R166Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464134	NM_020713.3(ZNF512B):c.1862C>T (p.Pro621Leu)	ZNF512B (P621L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455187	NM_020713.3(ZNF512B):c.1202C>T (p.Ala401Val)	ZNF512B (A401V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2406475	NM_020713.3(ZNF512B):c.1405G>A (p.Ala469Thr)	ZNF512B (A469T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402616	NM_020713.3(ZNF512B):c.242A>C (p.Asn81Thr)	ZNF512B (N81T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386323	NM_020713.3(ZNF512B):c.1570G>A (p.Val524Met)	ZNF512B (V524M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382981	NM_020713.3(ZNF512B):c.1540A>G (p.Thr514Ala)	ZNF512B (T514A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380176	NM_020713.3(ZNF512B):c.2126G>A (p.Arg709Gln)	ZNF512B (R709Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334964	NM_020713.3(ZNF512B):c.1192G>A (p.Gly398Ser)	ZNF512B (G398S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326394	NM_020713.3(ZNF512B):c.866C>T (p.Pro289Leu)	ZNF512B (P289L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308942	NM_020713.3(ZNF512B):c.1936G>A (p.Asp646Asn)	ZNF512B (D646N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304613	NM_020713.3(ZNF512B):c.410G>A (p.Arg137His)	ZNF512B (R137H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304612	NM_020713.3(ZNF512B):c.1580A>G (p.Lys527Arg)	ZNF512B (K527R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282611	NM_020713.3(ZNF512B):c.1249C>T (p.Arg417Cys)	ZNF512B (R417C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281962	NM_020713.3(ZNF512B):c.2585C>T (p.Pro862Leu)	ZNF512B (P862L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263875	NM_020713.3(ZNF512B):c.838A>C (p.Lys280Gln)	ZNF512B (K280Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232332	NM_020713.3(ZNF512B):c.2161C>T (p.Arg721Trp)	ZNF512B (R721W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215087	NM_020713.3(ZNF512B):c.329C>T (p.Ser110Leu)	ZNF512B (S110L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	CHRNA4, ABHD16B +44 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326329	GRCh37/hg19 20q13.33(chr20:61826780-62660844)	COL20A1, DNAJC5 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1234322	NM_020713.3(ZNF512B):c.1969-113C>T	ZNF512B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1023510	NC_000020.10:g.(?_62559699)_(62656066_?)dup	DNAJC5, PRPF6 +3 more	Duplication	not provided	GUncertain significance
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	RTEL1, SAMD10 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 979739	GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3	PRPF6, TCEA2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 564637	GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	SOX18, GMEB2 +29 more	Copy number loss	not provided	GPathogenic
Select item 564634	GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	PCMTD2, ZGPAT +29 more	Copy number loss	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 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 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	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 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066340, LOC130066341 +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 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 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 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	ABHD16B, ARFGAP1 +181 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC132090595, LOC132090596 +355 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	LOC130066394, LOC130066395 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 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

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