H3-3B[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 1227956	NM_005324.5(H3-3B):c.*1676G>A	H3-3B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1183985	NM_005324.5(H3-3B):c.410_411del (p.Ter137CysextTer?)	H3-3B	Deletion (frameshift variant +1 more)	Intellectual disability +4 more	GLikely pathogenic
Select item 1339275	NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	H3-3B (Q126R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2573076	NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys)	H3-3B (Q126K)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 1339274	NM_005324.5(H3-3B):c.365C>G (p.Pro122Arg)	H3-3B (P122R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GPathogenic
Select item 986385	NM_005324.5(H3-3B):c.354C>A (p.Val118=)	H3-3B	Single nucleotide variant (synonymous variant)	Hemiparkinsonism-hemiatrophy syndrome	GUncertain significance
Select item 3365608	NM_005324.5(H3-3B):c.344C>T (p.Ala115Val)	H3-3B (A115V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627565	NM_005324.5(H3-3B):c.328C>G (p.Leu110Val)	H3-3B (L110V)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GUncertain significance
Select item 1236882	NM_005324.5(H3-3B):c.282+14C>T	H3-3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302436	NM_005324.5(H3-3B):c.209G>A (p.Arg70Lys)	H3-3B (R70K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183984	NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn)	H3-3B (I52N)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 521569	NM_005324.5(H3-3B):c.119A>G (p.His40Arg)	H3-3B (H40R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678706	NM_005324.5(H3-3B):c.103G>A (p.Gly35Arg)	H3-3B (G35R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2571003	NM_005324.5(H3-3B):c.98C>T (p.Thr33Ile)	H3-3B (T33I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3376158	NM_005324.5(H3-3B):c.91C>T (p.Pro31Ser)	H3-3B (P31S)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 2443513	NM_005324.5(H3-3B):c.79_90del (p.Arg27_Ala30del)	H3-3B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1339273	NM_005324.5(H3-3B):c.88G>C (p.Ala30Pro)	H3-3B (A30P)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GPathogenic
Select item 1697246	NM_005324.5(H3-3B):c.68C>G (p.Thr23Arg)	H3-3B (T23R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 1183983	NM_005324.5(H3-3B):c.68C>A (p.Thr23Lys)	H3-3B (T23K)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 2682274	NM_005324.5(H3-3B):c.52C>T (p.Arg18Cys)	H3-3B (R18C)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 3376745	NM_005324.5(H3-3B):c.50C>A (p.Pro17His)	H3-3B (P17H)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GUncertain significance
Select item 1682569	NM_005324.5(H3-3B):c.37G>A (p.Gly13Ser)	H3-3B (G13S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1708061	NM_005324.5(H3-3B):c.35C>T (p.Thr12Ile)	H3-3B (T12I)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 1696881	NM_005324.5(H3-3B):c.31T>C (p.Ser11Pro)	H3-3B (S11P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1183982	NM_005324.5(H3-3B):c.28A>G (p.Lys10Glu)	H3-3B (K10E)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 985559	NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	H3-3B (R9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521247	NM_005324.5(H3-3B):c.23C>T (p.Ala8Val)	H3-3B (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3374710	NM_005324.5(H3-3B):c.11C>T (p.Thr4Ile)	H3-3B (T4I)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 1302429	NM_005324.5(H3-3B):c.1A>G (p.Met1Val)	H3-3B (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3243041	NC_000017.10:g.(?_73720784)_(73975154_?)dup	UNC13D, TRIM65 +9 more	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443158	GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3	ACOX1, FBF1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 3359557	NM_005324.5(H3-3B):c.196C>G (p.Leu66Val)	H3-3B (L66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 48