7707[geneid] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 1179358	NM_021964.3(ZNF148):c.*13del (p.Ter795=)	LOC126806798, ZNF148	Deletion (no sequence alteration)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GBenign
Select item 547906	NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs)	LOC126806798, ZNF148 (R778fs +1 more)	Microsatellite (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 1703131	NM_021964.3(ZNF148):c.2272C>T (p.Arg758Trp)	LOC126806798, ZNF148 (R716W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3194093	NM_021964.3(ZNF148):c.2119G>T (p.Asp707Tyr)	LOC126806798, ZNF148 (D665Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350558	NM_021964.3(ZNF148):c.2097C>T (p.Ala699=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	ZNF148-related disorder	GLikely benign
Select item 727958	NM_021964.3(ZNF148):c.2052G>A (p.Gln684=)	ZNF148, LOC126806798	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632286	NM_021964.3(ZNF148):c.2014G>C (p.Asp672His)	LOC126806798, ZNF148 (D630H +1 more)	Single nucleotide variant (missense variant)	ZNF148-related disorder	GUncertain significance
Select item 2430001	NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)	LOC126806798, ZNF148 (S623C +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 713344	NM_021964.3(ZNF148):c.1974C>T (p.Ser658=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507969	NM_021964.3(ZNF148):c.1913C>A (p.Pro638Gln)	LOC126806798, ZNF148 (P638Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3053426	NM_021964.3(ZNF148):c.1878G>A (p.Pro626=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	ZNF148-related disorder	GLikely benign
Select item 1049434	NM_021964.3(ZNF148):c.1871A>G (p.Asn624Ser)	LOC126806798, ZNF148 (N582S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3334992	NM_021964.3(ZNF148):c.1799A>G (p.Asn600Ser)	LOC126806798, ZNF148 (N600S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662777	NM_021964.3(ZNF148):c.1795G>T (p.Ala599Ser)	LOC126806798, ZNF148 (A557S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374842	NM_021964.3(ZNF148):c.1792A>T (p.Lys598Ter)	LOC126806798, ZNF148 (K598* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 2347601	NM_021964.3(ZNF148):c.1763G>A (p.Gly588Glu)	LOC126806798, ZNF148 (G546E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1274027	NM_021964.3(ZNF148):c.1749G>A (p.Pro583=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GBenign
Select item 2862206	NM_021964.3(ZNF148):c.1711A>G (p.Ile571Val)	LOC126806798, ZNF148 (I529V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636858	NM_021964.3(ZNF148):c.1699G>A (p.Val567Met)	LOC126806798, ZNF148 (V525M +1 more)	Single nucleotide variant (missense variant)	ZNF148-related disorder	GUncertain significance
Select item 1028237	NM_021964.3(ZNF148):c.1667A>C (p.His556Pro)	LOC126806798, ZNF148 (H556P +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 796282	NM_021964.3(ZNF148):c.1644T>C (p.Tyr548=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443381	NM_021964.3(ZNF148):c.1628_1640del (p.Thr543fs)	LOC126806798, ZNF148 (T501fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 807527	NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)	LOC126806798, ZNF148 (L502fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability +1 more	GPathogenic
Select item 1308666	NM_021964.3(ZNF148):c.1624C>T (p.Gln542Ter)	LOC126806798, ZNF148 (Q500* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 374843	NM_021964.3(ZNF148):c.1583dup (p.Ser529fs)	ZNF148, LOC126806798 (S487fs +1 more)	Duplication (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 374845	NM_021964.3(ZNF148):c.1581_1582insC (p.Lys528fs)	LOC126806798, ZNF148 (K528fs +1 more)	Insertion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3235720	NM_021964.3(ZNF148):c.1555G>C (p.Glu519Gln)	ZNF148 (E477Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744276	NM_021964.3(ZNF148):c.1542G>A (p.Thr514=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 666563	NM_021964.3(ZNF148):c.1504C>T (p.Gln502Ter)	ZNF148 (Q460* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 3194092	NM_021964.3(ZNF148):c.1474G>A (p.Gly492Ser)	ZNF148 (G450S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634695	NM_021964.3(ZNF148):c.1471G>A (p.Val491Met)	ZNF148 (V449M +1 more)	Single nucleotide variant (missense variant)	ZNF148-related disorder	GUncertain significance
Select item 2577929	NM_021964.3(ZNF148):c.1456G>T (p.Glu486Ter)	ZNF148 (E444* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 778109	NM_021964.3(ZNF148):c.1377T>C (p.His459=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357461	NM_021964.3(ZNF148):c.1376A>C (p.His459Pro)	ZNF148 (H417P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208510	NM_021964.3(ZNF148):c.1363A>G (p.Ser455Gly)	ZNF148 (S413G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698700	NM_021964.3(ZNF148):c.1268C>A (p.Ser423Ter)	ZNF148 (S381* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 1701964	NM_021964.3(ZNF148):c.1195_1199del (p.Arg399fs)	ZNF148 (R357fs +1 more)	Deletion (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 624226	NM_021964.3(ZNF148):c.1191_1194del (p.Ser397fs)	ZNF148 (S397fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986040	NM_021964.3(ZNF148):c.1188del (p.Asn396fs)	ZNF148 (N354fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 987124	NM_021964.3(ZNF148):c.1170_1173del (p.Leu390fs)	ZNF148 (L348fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1176790	NM_021964.3(ZNF148):c.1118T>C (p.Val373Ala)	ZNF148 (V331A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732644	NM_021964.3(ZNF148):c.1113G>A (p.Ser371=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2208055	NM_021964.3(ZNF148):c.1112C>T (p.Ser371Leu)	ZNF148 (S329L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492395	NM_021964.3(ZNF148):c.1031A>G (p.Asp344Gly)	ZNF148 (D302G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364274	NM_021964.3(ZNF148):c.1018A>G (p.Lys340Glu)	ZNF148 (K298E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445896	NM_021964.3(ZNF148):c.997T>G (p.Leu333Val)	ZNF148 (L291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 374844	NM_021964.3(ZNF148):c.970dup (p.Ser324fs)	ZNF148 (S282fs +1 more)	Duplication (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 872599	NM_021964.3(ZNF148):c.969dup (p.Ser324fs)	ZNF148 (S282fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 735319	NM_021964.3(ZNF148):c.959C>T (p.Thr320Met)	ZNF148 (T320M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3364486	NM_021964.3(ZNF148):c.887C>T (p.Thr296Ile)	ZNF148 (T254I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438670	NM_021964.3(ZNF148):c.863G>T (p.Cys288Phe)	ZNF148 (C246F +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GUncertain significance
Select item 2206156	NM_021964.3(ZNF148):c.857A>G (p.Asn286Ser)	ZNF148 (N286S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807528	NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly)	ZNF148 (D282G +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 721486	NM_021964.3(ZNF148):c.810A>G (p.Val270=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2438669	NM_021964.3(ZNF148):c.799A>C (p.Thr267Pro)	ZNF148 (T225P +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 1685478	NM_021964.3(ZNF148):c.734A>G (p.His245Arg)	ZNF148 (H203R +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 3343327	NM_021964.3(ZNF148):c.700A>T (p.Met234Leu)	ZNF148 (M192L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048390	NM_021964.3(ZNF148):c.615C>T (p.Asp205=)	ZNF148	Single nucleotide variant (synonymous variant)	ZNF148-related disorder	GLikely benign
Select item 2320368	NM_021964.3(ZNF148):c.530A>G (p.Asn177Ser)	ZNF148 (N135S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254943	NM_021964.3(ZNF148):c.528C>A (p.Cys176Ter)	ZNF148 (C134* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 3055455	NM_021964.3(ZNF148):c.460-9_460-8dup	ZNF148	Duplication (intron variant)	ZNF148-related disorder	GBenign
Select item 2572005	NM_021964.3(ZNF148):c.446G>A (p.Arg149His)	ZNF148 (R149H)	Single nucleotide variant (missense variant +1 more)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GConflicting classifications of pathogenicity
Select item 1033991	NM_021964.3(ZNF148):c.445C>T (p.Arg149Cys)	ZNF148 (R149C)	Single nucleotide variant (missense variant +1 more)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 1433494	NM_021964.3(ZNF148):c.319G>A (p.Ala107Thr)	ZNF148 (A107T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3194094	NM_021964.3(ZNF148):c.293A>C (p.Glu98Ala)	ZNF148 (E98A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233582	NM_021964.3(ZNF148):c.276G>A (p.Glu92=)	ZNF148	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2175560	NM_021964.3(ZNF148):c.248A>T (p.His83Leu)	ZNF148 (H83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233498	NM_021964.3(ZNF148):c.220A>G (p.Met74Val)	ZNF148 (M74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438671	NM_021964.3(ZNF148):c.123G>C (p.Glu41Asp)	ZNF148 (E41D)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 736953	NM_021964.3(ZNF148):c.119G>C (p.Gly40Ala)	ZNF148 (G40A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3366138	NM_021964.3(ZNF148):c.18del (p.Lys6fs)	ZNF148 (K6fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3334991	NM_021964.3(ZNF148):c.8T>C (p.Ile3Thr)	ZNF148 (I3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 3062732	GRCh37/hg19 3q21.2(chr3:124971802-125243742)x3	SNX4, ZNF148	Copy number gain	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1704652	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3	ALDH1L1, KLF15 +5 more	Copy number gain	Chromosome 16 trisomy	GUncertain significance
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1340334	GRCh37/hg19 3q21.2(chr3:125037052-125065578)x1	ZNF148	Copy number loss	not provided	GUncertain significance
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 685939	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 442544	GRCh37/hg19 3q21.2-21.3(chr3:124990032-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442219	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126087100)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 97