histone cluster 1, H2ai - ClinVar - NCBI

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The following term was not found in ClinVar: H2ai.

	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 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
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 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	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 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 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	ARF1, BTNL10 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 2533932	NM_003493.3(H3-4):c.403C>T (p.Arg135Trp)	H3-4 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640060	NM_003493.3(H3-4):c.366T>C (p.Pro122=)	H3-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103894	NM_003493.3(H3-4):c.349C>T (p.Arg117Trp)	H3-4 (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103893	NM_003493.3(H3-4):c.289T>A (p.Cys97Ser)	H3-4 (C97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103890	NM_003493.3(H3-4):c.224T>A (p.Ile75Asn)	H3-4 (I75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103889	NM_003493.3(H3-4):c.217C>G (p.Arg73Gly)	H3-4 (R73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103888	NM_003493.3(H3-4):c.215T>C (p.Met72Thr)	H3-4 (M72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283346	NM_003493.3(H3-4):c.190C>G (p.Arg64Gly)	H3-4 (R64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570068	NM_003493.3(H3-4):c.161G>A (p.Arg54His)	H3-4 (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283350	NM_003493.3(H3-4):c.158G>A (p.Arg53His)	H3-4 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103887	NM_003493.3(H3-4):c.157C>A (p.Arg53Ser)	H3-4 (R53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103886	NM_003493.3(H3-4):c.131C>G (p.Pro44Arg)	H3-4 (P44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534529	NM_003493.3(H3-4):c.125A>G (p.Tyr42Cys)	H3-4 (Y42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103885	NM_003493.3(H3-4):c.118C>T (p.His40Tyr)	H3-4 (H40Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283347	NM_003493.3(H3-4):c.107T>C (p.Val36Ala)	H3-4 (V36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103897	NM_003493.3(H3-4):c.95C>A (p.Ala32Asp)	H3-4 (A32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103896	NM_003493.3(H3-4):c.92C>T (p.Pro31Leu)	H3-4 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103895	NM_003493.3(H3-4):c.83A>G (p.Lys28Arg)	H3-4 (K28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525028	NM_003493.3(H3-4):c.53G>A (p.Arg18His)	H3-4 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103892	NM_003493.3(H3-4):c.26G>C (p.Arg9Pro)	H3-4 (R9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598796	NM_003493.3(H3-4):c.25C>T (p.Arg9Cys)	H3-4 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103891	NM_003493.3(H3-4):c.23C>T (p.Ala8Val)	H3-4 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604732	NM_003493.3(H3-4):c.11C>G (p.Thr4Ser)	H3-4 (T4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
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 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	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 1328448	GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1	ARF1, BTNL10 +22 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 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 687403	GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3	ARF1, BTNL10 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 684942	GRCh37/hg19 1q42.13(chr1:228408651-229301909)x4	BTNL10, H2AC25 +7 more	Copy number gain	not provided	GUncertain significance
Select item 590949	GRCh37/hg19 1q42.13(chr1:228297613-228703236)	GUK1, H2AC25 +14 more	Copy number gain	Aortic valve disease 1	GUncertain significance
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565231	GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3	ARF1, GJC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 2656291	NM_005325.4(H1-1):c.603G>A (p.Lys201=)	H1-1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103457	NM_005325.4(H1-1):c.589G>T (p.Ala197Ser)	H1-1 (A197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610646	NM_005325.4(H1-1):c.588G>C (p.Lys196Asn)	H1-1 (K196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552626	NM_005325.4(H1-1):c.541G>A (p.Ala181Thr)	H1-1 (A181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103454	NM_005325.4(H1-1):c.494C>T (p.Ser165Phe)	H1-1 (S165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103453	NM_005325.4(H1-1):c.472A>G (p.Lys158Glu)	H1-1 (K158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283248	NM_005325.4(H1-1):c.323T>C (p.Phe108Ser)	H1-1 (F108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103451	NM_005325.4(H1-1):c.307G>C (p.Gly103Arg)	H1-1 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103450	NM_005325.4(H1-1):c.281G>A (p.Gly94Glu)	H1-1 (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103449	NM_005325.4(H1-1):c.266G>A (p.Ser89Asn)	H1-1 (S89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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