KDM1A[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2028045	NM_001009999.3(KDM1A):c.5T>C (p.Leu2Ser)	KDM1A (L2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970962	NM_001009999.3(KDM1A):c.27_53del (p.Ala10_Ala18del)	KDM1A	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 2868989	NM_001009999.3(KDM1A):c.21G>A (p.Ala7=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675352	NM_001009999.3(KDM1A):c.30GGC[5] (p.Ala18dup)	KDM1A	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 2783565	NM_001009999.3(KDM1A):c.31G>T (p.Ala11Ser)	KDM1A (A11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797503	NM_001009999.3(KDM1A):c.35C>T (p.Ala12Val)	KDM1A (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070617	NM_001009999.3(KDM1A):c.39G>A (p.Ala13=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638473	NM_001009999.3(KDM1A):c.52G>A (p.Ala18Thr)	KDM1A (A18T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771425	NM_001009999.3(KDM1A):c.60G>A (p.Gly20=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974632	NM_001009999.3(KDM1A):c.63G>A (p.Thr21=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008389	NM_001009999.3(KDM1A):c.72C>T (p.Gly24=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031330	NM_001009999.3(KDM1A):c.77G>C (p.Gly26Ala)	KDM1A (G26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578302	NM_001009999.3(KDM1A):c.92C>G (p.Ser31Cys)	KDM1A (S31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999961	NM_001009999.3(KDM1A):c.123C>A (p.Pro41=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018543	NM_001009999.3(KDM1A):c.126G>A (p.Ala42=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305860	NM_001009999.3(KDM1A):c.128G>A (p.Gly43Asp)	KDM1A (G43D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028439	NM_001009999.3(KDM1A):c.131T>C (p.Leu44Pro)	KDM1A (L44P)	Single nucleotide variant (missense variant)	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	GUncertain significance
Select item 931593	NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser)	KDM1A (G46S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2785428	NM_001009999.3(KDM1A):c.144C>G (p.Ala48=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638474	NM_001009999.3(KDM1A):c.144C>T (p.Ala48=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638475	NM_001009999.3(KDM1A):c.148G>A (p.Val50Ile)	KDM1A (V50I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972826	NM_001009999.3(KDM1A):c.154C>T (p.Pro52Ser)	KDM1A (P52S)	Single nucleotide variant (missense variant)	KDM1A-related condition +1 more	GLikely benign
Select item 1699343	NM_001009999.3(KDM1A):c.160G>A (p.Ala54Thr)	KDM1A (A54T)	Single nucleotide variant (missense variant)	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	GUncertain significance
Select item 2784036	NM_001009999.3(KDM1A):c.161C>T (p.Ala54Val)	KDM1A (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2260860	NM_001009999.3(KDM1A):c.181C>A (p.Arg61Ser)	KDM1A (R61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578571	NM_001009999.3(KDM1A):c.185A>G (p.Lys62Arg)	KDM1A (K62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877003	NM_001009999.3(KDM1A):c.194C>G (p.Pro65Arg)	KDM1A (P65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879513	NM_001009999.3(KDM1A):c.195T>A (p.Pro65=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867249	NM_001009999.3(KDM1A):c.196C>T (p.Pro66Ser)	KDM1A (P66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821569	NM_001009999.3(KDM1A):c.203C>T (p.Ala68Val)	KDM1A (A68V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873749	NM_001009999.3(KDM1A):c.206C>T (p.Ser69Leu)	KDM1A (S69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783401	NM_001009999.3(KDM1A):c.209C>T (p.Pro70Leu)	KDM1A (P70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805983	NM_001009999.3(KDM1A):c.211C>T (p.Pro71Ser)	KDM1A (P71S)	Single nucleotide variant (missense variant)	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	GUncertain significance
Select item 2776392	NM_001009999.3(KDM1A):c.213C>A (p.Pro71=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782752	NM_001009999.3(KDM1A):c.216G>T (p.Gly72=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2497969	NM_001009999.3(KDM1A):c.224C>T (p.Ala75Val)	KDM1A (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451575	NM_001009999.3(KDM1A):c.230C>A (p.Pro77Gln)	KDM1A (P77Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976185	NM_001009999.3(KDM1A):c.240C>T (p.Ser80=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994718	NM_001009999.3(KDM1A):c.244G>C (p.Gly82Arg)	KDM1A (G82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783268	NM_001009999.3(KDM1A):c.245G>C (p.Gly82Ala)	KDM1A (G82A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036267	NM_001009999.3(KDM1A):c.246G>C (p.Gly82=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878954	NM_001009999.3(KDM1A):c.256G>A (p.Gly86Ser)	KDM1A (G86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026778	NM_001009999.3(KDM1A):c.257G>T (p.Gly86Val)	KDM1A (G86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633235	NM_001009999.3(KDM1A):c.257G>A (p.Gly86Asp)	KDM1A (G86D)	Single nucleotide variant (missense variant)	KDM1A-related condition	GUncertain significance
Select item 2019339	NM_001009999.3(KDM1A):c.259C>G (p.Pro87Ala)	KDM1A (P87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038736	NM_001009999.3(KDM1A):c.261T>C (p.Pro87=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973699	NM_001009999.3(KDM1A):c.262A>G (p.Thr88Ala)	KDM1A (T88A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1975493	NM_001009999.3(KDM1A):c.267C>T (p.Val89=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978497	NM_001009999.3(KDM1A):c.270G>T (p.Val90=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028440	NM_001009999.3(KDM1A):c.278C>A (p.Ser93Tyr)	KDM1A (S93Y)	Single nucleotide variant (missense variant)	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome +1 more	GUncertain significance
Select item 1050172	NM_001009999.3(KDM1A):c.283A>G (p.Thr95Ala)	KDM1A (T95A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2786540	NM_001009999.3(KDM1A):c.286C>T (p.Pro96Ser)	KDM1A (P96S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830569	NM_001009999.3(KDM1A):c.290T>C (p.Met97Thr)	KDM1A (M97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759406	NM_001009999.3(KDM1A):c.301A>G (p.Ile101Val)	KDM1A (I101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2229543	NM_001009999.3(KDM1A):c.302T>A (p.Ile101Lys)	KDM1A (I101K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067145	NM_001009999.3(KDM1A):c.306A>G (p.Ala102=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976442	NM_001009999.3(KDM1A):c.312T>C (p.Thr104=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869150	NM_001009999.3(KDM1A):c.336G>T (p.Arg112=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303532	NM_001009999.3(KDM1A):c.351G>A (p.Lys117=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2055830	NM_001009999.3(KDM1A):c.351+6G>T	KDM1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2016312	NM_001009999.3(KDM1A):c.351+8T>G	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777372	NM_001009999.3(KDM1A):c.351+12C>G	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977505	NM_001009999.3(KDM1A):c.351+13C>G	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871998	NM_001009999.3(KDM1A):c.351+18C>G	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261885	NM_001009999.3(KDM1A):c.352-98G>A	KDM1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2824085	NM_001009999.3(KDM1A):c.352-13G>A	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047713	NM_001009999.3(KDM1A):c.352-6A>G	KDM1A	Single nucleotide variant (intron variant)	KDM1A-related condition	GLikely benign
Select item 2783997	NM_001009999.3(KDM1A):c.352-4A>G	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2058558	NM_001009999.3(KDM1A):c.352-3T>C	KDM1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 591697	NM_001009999.3(KDM1A):c.360C>G (p.Tyr120Ter)	KDM1A (Y120*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2818100	NM_001009999.3(KDM1A):c.368T>C (p.Met123Thr)	KDM1A (M123T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985659	NM_001009999.3(KDM1A):c.411AGA[2] (p.Glu140del)	KDM1A (E140del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2135158	NM_001009999.3(KDM1A):c.456C>G (p.Pro152=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110891	NM_001009999.3(KDM1A):c.466C>G (p.Pro156Ala)	KDM1A (P156A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726403	NM_001009999.3(KDM1A):c.468T>A (p.Pro156=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041271	NM_001009999.3(KDM1A):c.480T>A (p.Pro160=)	KDM1A	Single nucleotide variant (synonymous variant)	KDM1A-related condition	GLikely benign
Select item 1978634	NM_001009999.3(KDM1A):c.487G>C (p.Glu163Gln)	KDM1A (E163Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858961	NM_001009999.3(KDM1A):c.498T>G (p.Ser166Arg)	KDM1A (S166R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111864	NM_001009999.3(KDM1A):c.500A>G (p.Glu167Gly)	KDM1A (E167G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828853	NM_001009999.3(KDM1A):c.517+7T>G	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122662	NM_001009999.3(KDM1A):c.517+15C>T	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227781	NM_001009999.3(KDM1A):c.517+155A>T	KDM1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2255502	NM_001009999.3(KDM1A):c.536A>G (p.Gln179Arg)	KDM1A (Q179R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2841278	NM_001009999.3(KDM1A):c.540C>T (p.Asp180=)	KDM1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2433051	NM_001009999.3(KDM1A):c.541G>C (p.Asp181His)	KDM1A (D181H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2069372	NM_001009999.3(KDM1A):c.541G>A (p.Asp181Asn)	KDM1A (D181N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011465	NM_001009999.3(KDM1A):c.557A>G (p.Tyr186Cys)	KDM1A (Y186C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1694500	NM_001009999.3(KDM1A):c.564C>T (p.Asp188=)	KDM1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2006443	NM_001009999.3(KDM1A):c.577+15A>G	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245196	NM_001009999.3(KDM1A):c.578-207G>A	KDM1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2419787	NM_001009999.3(KDM1A):c.578-9C>T	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017278	NM_001009999.3(KDM1A):c.578-6C>T	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010263	NM_001009999.3(KDM1A):c.578-5G>A	KDM1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744779	NM_001009999.3(KDM1A):c.588C>T (p.Gly196=)	KDM1A	Single nucleotide variant (synonymous variant)	KDM1A-related condition +1 more	GLikely benign
Select item 1706277	NM_001009999.3(KDM1A):c.589G>A (p.Ala197Thr)	KDM1A (A177T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745069	NM_001009999.3(KDM1A):c.600G>A (p.Gln200=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663425	NM_001009999.3(KDM1A):c.604C>T (p.Arg202Ter)	KDM1A (R182* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2417329	NM_001009999.3(KDM1A):c.630T>C (p.Ser210=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663323	NM_001009999.3(KDM1A):c.671A>G (p.Gln224Arg)	KDM1A (Q204R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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