15840[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 1232403	NC_000019.10:g.35717796del	KMT2B, LOC130064256	Deletion	not provided	GBenign
Select item 1556241	NM_014727.3(KMT2B):c.5CGG[5] (p.Ala5dup)	KMT2B	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 450816	NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs)	KMT2B (S9fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1453167	NM_014727.3(KMT2B):c.12_24del (p.Ala5fs)	KMT2B (A5fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 817423	NM_014727.3(KMT2B):c.15_24dup (p.Ser9fs)	KMT2B (S9fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 68 +2 more	GPathogenic
Select item 1995855	NM_014727.3(KMT2B):c.17_23dup (p.Ser9fs)	KMT2B (S9fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3346007	NM_014727.3(KMT2B):c.11C>A (p.Ala4Glu)	KMT2B (A4E)	Single nucleotide variant (missense variant)	KMT2B-related disorder	GUncertain significance
Select item 3239162	NM_014727.3(KMT2B):c.12G>A (p.Ala4=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923489	NM_014727.3(KMT2B):c.13G>A (p.Ala5Thr)	KMT2B (A5T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1935646	NM_014727.3(KMT2B):c.22G>A (p.Gly8Ser)	KMT2B (G8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164794	NM_014727.3(KMT2B):c.30C>T (p.Cys10=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649723	NM_014727.3(KMT2B):c.40G>A (p.Gly14Ser)	KMT2B (G14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649724	NM_014727.3(KMT2B):c.42C>T (p.Gly14=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954789	NM_014727.3(KMT2B):c.43T>C (p.Ser15Pro)	KMT2B (S15P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2101048	NM_014727.3(KMT2B):c.55C>T (p.Arg19Cys)	KMT2B (R19C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708351	NM_014727.3(KMT2B):c.60C>T (p.Phe20=)	KMT2B, LOC130064257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663134	NM_014727.3(KMT2B):c.64G>A (p.Gly22Ser)	KMT2B, LOC130064257 (G22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534225	NM_014727.3(KMT2B):c.79G>T (p.Ala27Ser)	KMT2B, LOC130064257 (A27S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1935317	NM_014727.3(KMT2B):c.80C>T (p.Ala27Val)	KMT2B, LOC130064257 (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704951	NM_014727.3(KMT2B):c.85GGGGGC[3] (p.Gly32_Arg33insGlyGly)	KMT2B, LOC130064257	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2971630	NM_014727.3(KMT2B):c.88G>A (p.Gly30Ser)	KMT2B, LOC130064257 (G30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3116006	NM_014727.3(KMT2B):c.92G>C (p.Gly31Ala)	KMT2B, LOC130064257 (G31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289136	NM_014727.3(KMT2B):c.94G>A (p.Gly32Ser)	KMT2B, LOC130064257 (G32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2984581	NM_014727.3(KMT2B):c.98G>A (p.Arg33His)	KMT2B, LOC130064257 (R33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896279	NM_014727.3(KMT2B):c.100G>A (p.Gly34Ser)	KMT2B, LOC130064257 (G34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2316893	NM_014727.3(KMT2B):c.103G>C (p.Gly35Arg)	KMT2B, LOC130064257 (G35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2788182	NM_014727.3(KMT2B):c.108G>T (p.Arg36=)	KMT2B, LOC130064257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534224	NM_014727.3(KMT2B):c.113A>G (p.Asn38Ser)	KMT2B (N38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1999010	NM_014727.3(KMT2B):c.115G>C (p.Gly39Arg)	KMT2B (G39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870575	NM_014727.3(KMT2B):c.118del (p.Ala40fs)	KMT2B (A40fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 1706170	NM_014727.3(KMT2B):c.116G>T (p.Gly39Val)	KMT2B (G39V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752125	NM_014727.3(KMT2B):c.117G>A (p.Gly39=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1366750	NM_014727.3(KMT2B):c.118G>A (p.Ala40Thr)	KMT2B (A40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973780	NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter)	KMT2B (E41*)	Single nucleotide variant (nonsense)	Autism	GLikely pathogenic
Select item 1195215	NM_014727.3(KMT2B):c.127G>C (p.Val43Leu)	KMT2B (V43L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3115975	NM_014727.3(KMT2B):c.130C>T (p.Arg44Trp)	KMT2B, LOC130064258 (R44W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1950021	NM_014727.3(KMT2B):c.132G>A (p.Arg44=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851489	NM_014727.3(KMT2B):c.133G>A (p.Val45Ile)	KMT2B, LOC130064258 (V45I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725090	NM_014727.3(KMT2B):c.135A>G (p.Val45=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965815	NM_014727.3(KMT2B):c.138T>C (p.Ala46=)	LOC130064258, KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614294	NM_014727.3(KMT2B):c.138T>G (p.Ala46=)	LOC130064258, KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839111	NM_014727.3(KMT2B):c.144G>A (p.Arg48=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031291	NM_014727.3(KMT2B):c.145C>A (p.Arg49Ser)	KMT2B, LOC130064258 (R49S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 3007879	NM_014727.3(KMT2B):c.146G>T (p.Arg49Leu)	KMT2B, LOC130064258 (R49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305303	NM_014727.3(KMT2B):c.146G>A (p.Arg49His)	KMT2B, LOC130064258 (R49H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983043	NM_014727.3(KMT2B):c.148G>T (p.Gly50Cys)	KMT2B, LOC130064258 (G50C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624093	NM_014727.3(KMT2B):c.150C>T (p.Gly50=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975265	NM_014727.3(KMT2B):c.155G>A (p.Gly52Asp)	KMT2B, LOC130064258 (G52D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2522767	NM_014727.3(KMT2B):c.160A>G (p.Thr54Ala)	KMT2B, LOC130064258 (T54A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2992680	NM_014727.3(KMT2B):c.164G>C (p.Gly55Ala)	KMT2B, LOC130064258 (G55A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187582	NM_014727.3(KMT2B):c.168G>C (p.Pro56=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012965	NM_014727.3(KMT2B):c.171C>T (p.Gly57=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978887	NM_014727.3(KMT2B):c.175G>A (p.Ala59Thr)	KMT2B, LOC130064258 (A59T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2743089	NM_014727.3(KMT2B):c.176C>T (p.Ala59Val)	KMT2B, LOC130064258 (A59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047677	NM_014727.3(KMT2B):c.180G>C (p.Glu60Asp)	KMT2B, LOC130064258 (E60D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2574246	NM_014727.3(KMT2B):c.181C>T (p.Pro61Ser)	KMT2B, LOC130064258 (P61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309300	NM_014727.3(KMT2B):c.182C>A (p.Pro61His)	KMT2B, LOC130064258 (P61H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535886	NM_014727.3(KMT2B):c.183C>T (p.Pro61=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895599	NM_014727.3(KMT2B):c.186G>A (p.Gly62=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974476	NM_014727.3(KMT2B):c.190G>A (p.Asp64Asn)	KMT2B, LOC130064258 (D64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021211	NM_014727.3(KMT2B):c.197C>T (p.Ala66Val)	KMT2B, LOC130064258 (A66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2994580	NM_014727.3(KMT2B):c.198C>T (p.Ala66=)	KMT2B, LOC130064258	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2984560	NM_014727.3(KMT2B):c.205C>T (p.Arg69Cys)	KMT2B (R69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135412	NM_014727.3(KMT2B):c.215G>A (p.Gly72Glu)	KMT2B (G72E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013152	NM_014727.3(KMT2B):c.221G>A (p.Arg74His)	KMT2B (R74H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 742226	NM_014727.3(KMT2B):c.234C>G (p.Arg78=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978226	NM_014727.3(KMT2B):c.235C>T (p.Arg79Trp)	KMT2B (R79W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468585	NM_014727.3(KMT2B):c.238C>T (p.Leu80Phe)	KMT2B (L80F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2792232	NM_014727.3(KMT2B):c.241C>T (p.Arg81Cys)	KMT2B (R81C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887729	NM_014727.3(KMT2B):c.242G>A (p.Arg81His)	KMT2B (R81H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949106	NM_014727.3(KMT2B):c.246C>T (p.Arg82=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578322	NM_014727.3(KMT2B):c.258C>A (p.Gly86=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779828	NM_014727.3(KMT2B):c.264G>C (p.Arg88=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649725	NM_014727.3(KMT2B):c.265G>A (p.Val89Ile)	KMT2B (V89I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558297	NM_014727.3(KMT2B):c.267C>G (p.Val89=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698156	NM_014727.3(KMT2B):c.282_299dup (p.Gly100_Trp101insArgGlyArgGlyArgGly)	KMT2B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2412861	NM_014727.3(KMT2B):c.271C>T (p.Arg91Trp)	KMT2B (R91W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900060	NM_014727.3(KMT2B):c.282_299del (p.91RG[2])	KMT2B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1986042	NM_014727.3(KMT2B):c.277C>G (p.Arg93Gly)	KMT2B (R93G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031293	NM_014727.3(KMT2B):c.278G>C (p.Arg93Pro)	KMT2B (R93P)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 2547753	NM_014727.3(KMT2B):c.280G>A (p.Gly94Arg)	KMT2B (G94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1193514	NM_014727.3(KMT2B):c.282A>C (p.Gly94=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799488	NM_014727.3(KMT2B):c.285G>T (p.Arg95=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844788	NM_014727.3(KMT2B):c.289C>T (p.Arg97Trp)	KMT2B (R97W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808514	NM_014727.3(KMT2B):c.306C>A (p.Gly102=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855426	NM_014727.3(KMT2B):c.314G>C (p.Arg105Pro)	KMT2B (R105P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879430	NM_014727.3(KMT2B):c.316G>A (p.Gly106Ser)	KMT2B (G106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649726	NM_014727.3(KMT2B):c.317G>T (p.Gly106Val)	KMT2B (G106V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662024	NM_014727.3(KMT2B):c.323T>C (p.Val108Ala)	KMT2B (V108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698353	NM_014727.3(KMT2B):c.338G>A (p.Ser113Asn)	KMT2B (S113N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957604	NM_014727.3(KMT2B):c.340A>G (p.Ser114Gly)	KMT2B (S114G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1554758	NM_014727.3(KMT2B):c.342T>C (p.Ser114=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703936	NM_014727.3(KMT2B):c.346G>T (p.Gly116Trp)	KMT2B (G116W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483594	NM_014727.3(KMT2B):c.349G>A (p.Glu117Lys)	KMT2B (E117K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787202	NM_014727.3(KMT2B):c.353C>T (p.Ser118Phe)	KMT2B (S118F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930586	NM_014727.3(KMT2B):c.363+7C>T	KMT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001553	NM_014727.3(KMT2B):c.363+13G>T	KMT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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