ClinVar for Gene (Select 3020) - ClinVar

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Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381184	NM_002107.7(H3-3A):c.388C>T (p.Arg130Cys)	H3-3A (R130C)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GUncertain significance
Select item 3376608	NM_002107.7(H3-3A):c.362T>C (p.Met121Thr)	H3-3A (M121T)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GPathogenic
Select item 3373122	NM_002107.7(H3-3A):c.255C>A (p.Phe85Leu)	H3-3A (F85L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371951	NM_002107.7(H3-3A):c.282+1G>A	H3-3A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3343881	NM_002107.7(H3-3A):c.385C>T (p.Arg129Cys)	H3-3A (R129C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343880	NM_002107.7(H3-3A):c.68C>T (p.Thr23Ile)	H3-3A (T23I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3103884	NM_002107.7(H3-3A):c.25C>G (p.Arg9Gly)	H3-3A, LOC129932634 (R9G)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 3062006	NM_002107.7(H3-3A):c.134G>A (p.Gly45Asp)	H3-3A (G45D)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GUncertain significance
Select item 3054223	NM_002107.7(H3-3A):c.283-3C>T	H3-3A	Single nucleotide variant (intron variant)	H3-3A-related disorder	GLikely benign
Select item 3040853	NM_002107.7(H3-3A):c.78T>C (p.Ala26=)	H3-3A	Single nucleotide variant (synonymous variant)	H3-3A-related disorder	GLikely benign
Select item 2662684	NM_002107.7(H3-3A):c.87T>G (p.Ser29Arg)	H3-3A (S29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2617647	NM_002107.7(H3-3A):c.128+6A>T	H3-3A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2577693	NM_002107.7(H3-3A):c.308G>A (p.Gly103Asp)	H3-3A (G103D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444025	NM_002107.7(H3-3A):c.137C>A (p.Thr46Asn)	H3-3A (T46N)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GUncertain significance
Select item 2136146	NM_002107.7(H3-3A):c.380del (p.Leu127fs)	H3-3A (L127fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2112475	NM_002107.7(H3-3A):c.149G>A (p.Arg50His)	H3-3A (R50H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1800818	NM_002107.7(H3-3A):c.248T>G (p.Leu83Arg)	H3-3A (L83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	ACBD3, COQ8A +16 more	Duplication	not provided	GUncertain significance
Select item 1339283	NM_002107.7(H3-3A):c.52A>G (p.Arg18Gly)	H3-3A (R18G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1335016	NM_002107.7(H3-3A):c.143C>T (p.Ala48Val)	H3-3A (A48V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1306572	NM_002107.7(H3-3A):c.92C>T (p.Pro31Leu)	H3-3A (P31L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1306413	NM_002107.7(H3-3A):c.335C>T (p.Ala112Val)	H3-3A (A112V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1306366	NM_002107.7(H3-3A):c.233A>G (p.Asp78Gly)	H3-3A (D78G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306290	NM_002107.7(H3-3A):c.20C>G (p.Thr7Ser)	H3-3A, LOC129932634 (T7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183981	NM_002107.7(H3-3A):c.386G>A (p.Arg129His)	H3-3A (R129H)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1183980	NM_002107.7(H3-3A):c.363G>A (p.Met121Ile)	H3-3A (M121I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1183979	NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)	H3-3A (G91R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GUncertain significance
Select item 1183978	NM_002107.7(H3-3A):c.166C>A (p.Gln56Lys)	H3-3A (Q56K)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 1183977	NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys)	H3-3A (R41C)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 986093	NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg)	H3-3A (P122R)	Single nucleotide variant (missense variant)	H3F3A-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 985690	NM_002107.7(H3-3A):c.107T>C (p.Val36Ala)	H3-3A (V36A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985386	NM_002107.7(H3-3A):c.337A>G (p.Ile113Val)	H3-3A (I113V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985335	NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile)	H3-3A (T46I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 985323	NM_002107.7(H3-3A):c.244G>C (p.Asp82His)	H3-3A (D82H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 985263	NM_002107.7(H3-3A):c.326A>G (p.Asn109Ser)	H3-3A (N109S)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +1 more	GLikely pathogenic
Select item 985149	NM_002107.7(H3-3A):c.245A>G (p.Asp82Gly)	H3-3A (D82G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983132	NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly)	H3-3A (R84G)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +1 more	GLikely pathogenic
Select item 932067	NM_002107.7(H3-3A):c.185T>G (p.Leu62Arg)	H3-3A (L62R)	Single nucleotide variant (missense variant)	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 916527	NM_002107.7(H3-3A):c.131C>T (p.Pro44Leu)	H3-3A (P44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814171	GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3	ITPKB, ACBD3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 690374	NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)	H3-3A (P122L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	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
Select item 520774	NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg)	H3-3A (Q126R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 450704	NM_002107.7(H3-3A):c.239A>C (p.Lys80Thr)	H3-3A (K80T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 438766	NM_002107.7(H3-3A):c.103G>A (p.Gly35Arg)	H3-3A (G35R)	Single nucleotide variant (missense variant)	Glioblastoma	Gother
Select item 429971	NM_002107.7(H3-3A):c.88G>A (p.Ala30Thr)	H3-3A (A30T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 376435	NM_002107.7(H3-3A):c.83A>T (p.Lys28Met)	H3-3A (K28M)	Single nucleotide variant (missense variant)	Astrocytoma +1 more	GLikely pathogenic
Select item 376434	NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)	H3-3A (G34R)	Single nucleotide variant (missense variant)	Adrenal cortex carcinoma +3 more	GLikely pathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 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 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	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 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 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 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 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 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 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

ClinVar

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Links from Gene

Items: 81