ClinVar for Gene (Select 51111) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349894	NM_017635.5(KMT5B):c.652T>C (p.Trp218Arg)	KMT5B (W147R +3 more)	Single nucleotide variant (missense variant +2 more)	KMT5B-related disorder	GUncertain significance
Select item 3340811	NM_017635.5(KMT5B):c.2542G>A (p.Asp848Asn)	KMT5B (D608N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338929	NM_017635.5(KMT5B):c.1992C>T (p.Ser664=)	KMT5B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3257648	NM_017635.5(KMT5B):c.1019C>T (p.Ala340Val)	KMT5B (A100V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3257191	NM_017635.5(KMT5B):c.2435G>A (p.Arg812Gln)	KMT5B (R572Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3252442	NM_017635.5(KMT5B):c.1069C>T (p.Arg357Cys)	KMT5B (R117C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252130	NM_017635.5(KMT5B):c.2597C>G (p.Ser866Cys)	KMT5B (S626C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235728	NM_017635.5(KMT5B):c.2365G>T (p.Gly789Trp)	KMT5B (G549W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235070	NM_017635.5(KMT5B):c.634dup (p.Ile212fs)	KMT5B (I141fs +3 more)	Duplication (frameshift variant +2 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 3234387	NM_017635.5(KMT5B):c.1587G>C (p.Gly529=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3069121	NM_017635.5(KMT5B):c.2150A>G (p.Lys717Arg)	KMT5B (K477R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067739	NM_017635.5(KMT5B):c.1380G>C (p.Arg460=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064983	NM_017635.5(KMT5B):c.1615C>T (p.Arg539Trp)	KMT5B (R299W +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061341	NM_017635.5(KMT5B):c.1032_1033insC (p.Ile345fs)	KMT5B (I105fs +4 more)	Insertion (frameshift variant +1 more)	KMT5B-related disorder	GLikely pathogenic
Select item 3055931	NM_017635.5(KMT5B):c.2259C>T (p.Asn753=)	KMT5B	Single nucleotide variant (synonymous variant)	KMT5B-related disorder	GLikely benign
Select item 3054411	NM_017635.5(KMT5B):c.1507G>A (p.Ala503Thr)	KMT5B (A263T +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GLikely benign
Select item 3046409	NM_017635.5(KMT5B):c.979C>T (p.Arg327Trp)	KMT5B (R155W +4 more)	Single nucleotide variant (missense variant +1 more)	KMT5B-related disorder	GUncertain significance
Select item 3043267	NM_017635.5(KMT5B):c.1595C>T (p.Ser532Leu)	KMT5B (S292L +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GLikely benign
Select item 3034230	NM_017635.5(KMT5B):c.377+4G>A	KMT5B	Single nucleotide variant (5 prime UTR variant +1 more)	KMT5B-related disorder	GLikely benign
Select item 3030534	NM_017635.5(KMT5B):c.346T>C (p.Ser116Pro)	KMT5B (S116P +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	KMT5B-related disorder	GLikely benign
Select item 3029732	NM_017635.5(KMT5B):c.2515G>A (p.Asp839Asn)	KMT5B (D599N +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 3026673	NM_017635.5(KMT5B):c.2462A>G (p.Tyr821Cys)	KMT5B (Y581C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026001	NM_017635.5(KMT5B):c.136G>A (p.Ala46Thr)	KMT5B (A46T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 3025102	NM_017635.5(KMT5B):c.1707G>A (p.Thr569=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921148	NM_017635.5(KMT5B):c.923G>A (p.Gly308Glu)	KMT5B (G136E +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2874613	NM_017635.5(KMT5B):c.2651A>G (p.Asn884Ser)	KMT5B (N644S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2808910	NM_017635.5(KMT5B):c.571A>G (p.Thr191Ala)	KMT5B (T120A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2690173	NM_017635.5(KMT5B):c.2021G>A (p.Gly674Asp)	KMT5B (G434D +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2687918	NM_017635.5(KMT5B):c.1823del (p.Gly608fs)	KMT5B (G368fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 2687765	NM_017635.5:c.438_439ins[TCTT;KT192064.1:1_310]	KMT5B	Insertion	KMT5B-related neurodevelopmental disorder	GLikely pathogenic
Select item 2685409	GRCh37/hg19 11q13.2(chr11:67799161-68393180)x1	C11orf24, CHKA +5 more	Copy number loss	not provided	GPathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2683928	NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)	KMT5B (R155* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 2662561	NM_017635.5(KMT5B):c.626G>T (p.Gly209Val)	KMT5B (G138V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2662558	NM_017635.5(KMT5B):c.2489C>T (p.Ser830Phe)	KMT5B (S590F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662027	NM_017635.5(KMT5B):c.734A>G (p.His245Arg)	KMT5B (H174R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2642039	NM_017635.5(KMT5B):c.267T>C (p.Leu89=)	KMT5B	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2642038	NM_017635.5(KMT5B):c.957C>T (p.Cys319=)	KMT5B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642037	NM_017635.5(KMT5B):c.1184G>A (p.Arg395Gln)	KMT5B (R155Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642036	NM_017635.5(KMT5B):c.1298A>G (p.Asn433Ser)	KMT5B (N193S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642035	NM_017635.5(KMT5B):c.1506C>T (p.Ala502=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642034	NM_017635.5(KMT5B):c.1720G>A (p.Asp574Asn)	KMT5B (D334N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2642033	NM_017635.5(KMT5B):c.1723_1725del (p.Ser575del)	KMT5B (S335del +2 more)	Deletion (inframe_deletion)	not provided	GBenign
Select item 2642032	NM_017635.5(KMT5B):c.1820C>T (p.Thr607Ile)	KMT5B (T367I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642031	NM_017635.5(KMT5B):c.1851A>C (p.Gly617=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2642030	NM_017635.5(KMT5B):c.1894G>C (p.Val632Leu)	KMT5B (V392L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642029	NM_017635.5(KMT5B):c.2019C>T (p.Val673=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633735	NM_017635.5(KMT5B):c.2383C>A (p.Leu795Ile)	KMT5B (L555I +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 2633693	NM_017635.5(KMT5B):c.95T>G (p.Leu32Ter)	KMT5B (L32*)	Single nucleotide variant (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51 +1 more	GConflicting classifications of pathogenicity
Select item 2630141	NM_017635.5(KMT5B):c.1774C>T (p.His592Tyr)	KMT5B (H352Y +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 2630106	NM_017635.5(KMT5B):c.1182C>G (p.Asn394Lys)	KMT5B (N154K +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 2627006	NM_017635.5(KMT5B):c.1208A>G (p.Lys403Arg)	KMT5B (K163R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584616	NM_017635.5(KMT5B):c.1174+1575C>G	KMT5B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2582732	NM_017635.5(KMT5B):c.2435G>C (p.Arg812Pro)	KMT5B (R572P +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2578662	NM_017635.5(KMT5B):c.1509A>G (p.Ala503=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577961	NM_017635.5(KMT5B):c.1555_1558del (p.Gln519fs)	KMT5B (Q279fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2576171	NM_017635.5(KMT5B):c.1712C>G (p.Pro571Arg)	KMT5B (P331R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575087	NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)	KMT5B (R543* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 2573668	NM_017635.5(KMT5B):c.2176_2177delinsC (p.Ser726fs)	KMT5B (S486fs +2 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2572366	NM_017635.5(KMT5B):c.2423T>G (p.Leu808Arg)	KMT5B (L568R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572194	NM_017635.5(KMT5B):c.1243A>T (p.Met415Leu)	KMT5B (M175L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539732	NM_017635.5(KMT5B):c.2192del (p.Asn731fs)	KMT5B (N559fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2504135	NM_017635.5(KMT5B):c.1445T>G (p.Val482Gly)	KMT5B (V242G +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2503202	NM_017635.5(KMT5B):c.1478A>T (p.Asp493Val)	KMT5B (D253V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502749	NM_017635.5(KMT5B):c.2003G>C (p.Cys668Ser)	KMT5B (C428S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502481	NM_017635.5(KMT5B):c.544G>T (p.Val182Leu)	KMT5B (V10L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2499599	NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)	KMT5B (C133Y +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 2498523	NM_017635.5(KMT5B):c.625G>A (p.Gly209Arg)	KMT5B (G138R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2498522	NM_017635.5(KMT5B):c.913T>C (p.Cys305Arg)	KMT5B (C133R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498521	NM_017635.5(KMT5B):c.1843C>A (p.Arg615=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498520	NM_017635.5(KMT5B):c.2218T>C (p.Ser740Pro)	KMT5B (S500P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2465581	NM_017635.5(KMT5B):c.1921G>A (p.Ala641Thr)	KMT5B (A401T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2436525	NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)	KMT5B (E584fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2436524	NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)	KMT5B (G434S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2433258	NM_017635.5(KMT5B):c.1618C>T (p.Arg540Trp)	KMT5B (R300W +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2428851	NM_017635.5(KMT5B):c.817del (p.His273fs)	KMT5B (H101fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2424414	NC_000011.9:g.(?_67759017)_(68216538_?)dup	ALDH3B1, C11orf24 +6 more	Duplication	not provided	GUncertain significance
Select item 2358462	NM_017635.5(KMT5B):c.2348G>A (p.Arg783Gln)	KMT5B (R611Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2357621	NM_017635.5(KMT5B):c.1786C>G (p.Gln596Glu)	KMT5B (Q356E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2350121	NM_017635.5(KMT5B):c.1683G>T (p.Leu561Phe)	KMT5B (L321F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2336623	NM_017635.5(KMT5B):c.1706C>T (p.Thr569Met)	KMT5B (T329M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2297527	NM_017635.5(KMT5B):c.162T>G (p.Cys54Trp)	KMT5B (C54W)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2284877	NM_017635.5(KMT5B):c.232T>C (p.Cys78Arg)	KMT5B (C78R +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2261171	NM_017635.5(KMT5B):c.2621G>A (p.Arg874Lys)	KMT5B (R634K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261170	NM_017635.5(KMT5B):c.2492C>A (p.Ser831Tyr)	KMT5B (S591Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242717	NM_017635.5(KMT5B):c.2014C>T (p.Pro672Ser)	KMT5B (P500S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239801	NM_017635.5(KMT5B):c.2508_2510del (p.Glu838del)	KMT5B (E838del +2 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 2222698	NM_017635.5(KMT5B):c.2231G>A (p.Ser744Asn)	KMT5B (S572N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206517	NM_017635.5(KMT5B):c.1765G>C (p.Glu589Gln)	KMT5B (E589Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1895457	NM_017635.5(KMT5B):c.96dup (p.Gln33fs)	KMT5B (Q33fs)	Duplication (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1879210	NM_017635.5(KMT5B):c.696C>G (p.Ala232=)	KMT5B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1809711	NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)	KMT5B (E168del +3 more)	Microsatellite (inframe_deletion +2 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 1806799	NM_017635.5(KMT5B):c.956G>A (p.Cys319Tyr)	KMT5B (C147Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1805780	NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)	KMT5B (E130K +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 1803795	NM_017635.5(KMT5B):c.550A>G (p.Ile184Val)	KMT5B (I113V +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1803449	NM_017635.5(KMT5B):c.418G>A (p.Val140Ile)	KMT5B (V117I +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1801700	NM_017635.5(KMT5B):c.919T>C (p.Tyr307His)	KMT5B (Y135H +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 1801414	NM_017635.5(KMT5B):c.-76-8323_-76-8288del	KMT5B	Deletion (intron variant)	Schizophrenia	GUncertain significance

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