PGBD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	See cases	GPathogenic
Select item 154353	GRCh38/hg38 1q44(chr1:248804574-248895548)x3	LOC115804255, LOC115804256 +24 more	Copy number gain	See cases	GBenign
Select item 150712	GRCh38/hg38 1q44(chr1:248826567-248918467)x1	LOC115804255, LOC115804256 +17 more	Copy number loss	See cases	GLikely benign
Select item 2291648	NM_170725.3(PGBD2):c.16A>G (p.Arg6Gly)	PGBD2 (R6G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326946	NM_170725.3(PGBD2):c.26T>C (p.Ile9Thr)	PGBD2 (I9T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540828	NM_170725.3(PGBD2):c.52G>A (p.Val18Met)	PGBD2 (V18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321771	NM_170725.3(PGBD2):c.130A>G (p.Ile44Val)	PGBD2 (I44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222097	NM_170725.3(PGBD2):c.152C>T (p.Ala51Val)	PGBD2 (A51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263859	NM_170725.3(PGBD2):c.191G>T (p.Ser64Ile)	PGBD2 (S64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260819	NM_170725.3(PGBD2):c.242G>A (p.Cys81Tyr)	PGBD2 (C81Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539375	NM_170725.3(PGBD2):c.248A>G (p.Asp83Gly)	PGBD2 (D83G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380363	NM_170725.3(PGBD2):c.270T>A (p.Asn90Lys)	PGBD2 (N90K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211746	NM_170725.3(PGBD2):c.353G>A (p.Arg118His)	PGBD2 (R118H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365423	NM_170725.3(PGBD2):c.392T>C (p.Ile131Thr)	PGBD2 (I131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391327	NM_170725.3(PGBD2):c.430C>G (p.Leu144Val)	PGBD2 (L144V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260766	NM_170725.3(PGBD2):c.449A>G (p.Asp150Gly)	PGBD2 (D150G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266105	NM_170725.3(PGBD2):c.450T>G (p.Asp150Glu)	PGBD2 (D150E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349435	NM_170725.3(PGBD2):c.487C>T (p.Arg163Cys)	PGBD2 (R163C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211747	NM_170725.3(PGBD2):c.512A>G (p.Asn171Ser)	PGBD2 (N171S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305959	NM_170725.3(PGBD2):c.541T>G (p.Cys181Gly)	PGBD2 (C181G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211748	NM_170725.3(PGBD2):c.628C>T (p.His210Tyr)	PGBD2 (H210Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305962	NM_170725.3(PGBD2):c.685C>A (p.His229Asn)	PGBD2 (H229N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227276	NM_170725.3(PGBD2):c.697A>G (p.Asn233Asp)	PGBD2 (N233D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382957	NM_170725.3(PGBD2):c.703G>A (p.Glu235Lys)	PGBD2 (E235K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2555279	NM_170725.3(PGBD2):c.713C>G (p.Ala238Gly)	PGBD2 (A238G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2247378	NM_170725.3(PGBD2):c.727G>T (p.Ala243Ser)	PGBD2 (A243S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366940	NM_170725.3(PGBD2):c.733G>C (p.Val245Leu)	PGBD2 (V245L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481215	NM_170725.3(PGBD2):c.764A>G (p.Asn255Ser)	PGBD2 (N255S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211749	NM_170725.3(PGBD2):c.821A>C (p.Glu274Ala)	PGBD2 (E23A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482117	NM_170725.3(PGBD2):c.839G>A (p.Gly280Glu)	PGBD2 (G280E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594912	NM_170725.3(PGBD2):c.898A>G (p.Thr300Ala)	PGBD2 (T300A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211750	NM_170725.3(PGBD2):c.996A>G (p.Ile332Met)	PGBD2 (I81M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291397	NM_170725.3(PGBD2):c.1047T>G (p.Phe349Leu)	PGBD2 (F349L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211740	NM_170725.3(PGBD2):c.1124G>A (p.Arg375His)	PGBD2 (R375H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299501	NM_170725.3(PGBD2):c.1154A>G (p.Lys385Arg)	PGBD2 (K385R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623098	NM_170725.3(PGBD2):c.1201A>G (p.Lys401Glu)	PGBD2 (K401E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305960	NM_170725.3(PGBD2):c.1219G>A (p.Glu407Lys)	PGBD2 (E156K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211741	NM_170725.3(PGBD2):c.1235G>A (p.Arg412His)	PGBD2 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305961	NM_170725.3(PGBD2):c.1331G>A (p.Arg444Gln)	PGBD2 (R193Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211742	NM_170725.3(PGBD2):c.1377G>C (p.Lys459Asn)	PGBD2 (K208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355938	NM_170725.3(PGBD2):c.1381G>C (p.Gly461Arg)	PGBD2 (G210R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308301	NM_170725.3(PGBD2):c.1394G>T (p.Arg465Met)	PGBD2 (R214M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211743	NM_170725.3(PGBD2):c.1415A>G (p.Lys472Arg)	PGBD2 (K472R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295249	NM_170725.3(PGBD2):c.1438A>T (p.Met480Leu)	PGBD2 (M480L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483210	NM_170725.3(PGBD2):c.1610G>A (p.Arg537Gln)	PGBD2 (R286Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211744	NM_170725.3(PGBD2):c.1630G>C (p.Glu544Gln)	PGBD2 (E293Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335745	NM_170725.3(PGBD2):c.1677G>C (p.Lys559Asn)	PGBD2 (K559N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565257	GRCh37/hg19 1q44(chr1:247846257-249224684)x1	LYPD8, OR11L1 +38 more	Copy number loss	not provided	GUncertain significance
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic

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