8849[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 1261015	NM_004564.3(GATB):c.*135A>G	GATB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2271688	NM_004564.3(GATB):c.1654G>A (p.Glu552Lys)	GATB (E507K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098778	NM_004564.3(GATB):c.1622G>C (p.Arg541Pro)	GATB (R541P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098777	NM_004564.3(GATB):c.1622G>A (p.Arg541Gln)	GATB (R496Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592599	NM_004564.3(GATB):c.1604G>A (p.Arg535Gln)	GATB (R490Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024974	NM_004564.3(GATB):c.1603C>T (p.Arg535Trp)	GATB (R490W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634804	NM_004564.3(GATB):c.1591_1594dup (p.Gly532fs)	GATB (G487fs +1 more)	Duplication (frameshift variant)	GATB-related disorder	GUncertain significance
Select item 3280874	NM_004564.3(GATB):c.1555G>A (p.Val519Met)	GATB (V474M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120209	NM_004564.3(GATB):c.1546-5_1546-3del	GATB	Deletion (intron variant)	Combined oxidative phosphorylation deficiency 41	GUncertain significance
Select item 1256843	NM_004564.3(GATB):c.1546-23GTAA[3]	GATB	Microsatellite (intron variant)	not provided	GBenign
Select item 2295624	NM_004564.3(GATB):c.1506G>T (p.Glu502Asp)	GATB (E502D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400119	NM_004564.3(GATB):c.1479A>T (p.Glu493Asp)	GATB (E493D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476620	NM_004564.3(GATB):c.1351C>T (p.Leu451Phe)	GATB (L451F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183896	NM_004564.3(GATB):c.1332-103A>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236376	NM_004564.3(GATB):c.1331+226G>T	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179746	NM_004564.3(GATB):c.1331+88T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248000	NM_004564.3(GATB):c.1331+82T>G	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287980	NM_004564.3(GATB):c.1329G>A (p.Glu443=)	GATB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3056173	NM_004564.3(GATB):c.1287T>G (p.Thr429=)	GATB	Single nucleotide variant (synonymous variant)	GATB-related disorder	GBenign
Select item 2578970	NM_004564.3(GATB):c.1198-6dup	GATB	Duplication (intron variant)	not provided	GLikely benign
Select item 3056163	NM_004564.3(GATB):c.1198-7_1198-6del	GATB	Deletion (intron variant)	GATB-related disorder	GBenign
Select item 1252303	NM_004564.3(GATB):c.1198-6del	GATB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1273897	NM_004564.3(GATB):c.1198-84_1198-83insT	GATB	Insertion (intron variant)	not provided	GBenign
Select item 1287289	NM_004564.3(GATB):c.1198-202A>G	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3350673	NM_004564.3(GATB):c.1187T>C (p.Phe396Ser)	GATB (F396S)	Single nucleotide variant (missense variant)	GATB-related disorder	GUncertain significance
Select item 2603900	NM_004564.3(GATB):c.1163A>C (p.Tyr388Ser)	GATB (Y388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378710	NM_004564.3(GATB):c.1160A>T (p.Gln387Leu)	GATB (Q387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025420	NM_004564.3(GATB):c.1152T>C (p.Leu384=)	GATB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711416	NM_004564.3(GATB):c.1145A>G (p.Glu382Gly)	GATB (E382G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2217399	NM_004564.3(GATB):c.1121C>T (p.Pro374Leu)	GATB (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341883	NM_004564.3(GATB):c.1066G>A (p.Ala356Thr)	GATB (A356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695113	NM_004564.3(GATB):c.1065C>T (p.Pro355=)	GATB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056345	NM_004564.3(GATB):c.1050C>T (p.Asp350=)	GATB	Single nucleotide variant (synonymous variant)	GATB-related disorder	GBenign
Select item 2655127	NM_004564.3(GATB):c.1050C>A (p.Asp350Glu)	GATB (D350E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2498962	NM_004564.3(GATB):c.1038G>C (p.Leu346=)	GATB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617069	NM_004564.3(GATB):c.1026C>G (p.Asn342Lys)	GATB (N342K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259641	NM_004564.3(GATB):c.1007+31T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231494	NM_004564.3(GATB):c.963-201dup	GATB	Duplication (intron variant)	not provided	GBenign
Select item 1182021	NM_004564.3(GATB):c.963-186del	GATB	Deletion (intron variant)	not provided	GBenign
Select item 2275640	NM_004564.3(GATB):c.941G>A (p.Arg314His)	GATB (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261081	NM_004564.3(GATB):c.878-95del	GATB	Deletion (intron variant)	not provided	GBenign
Select item 1120208	NM_004564.3(GATB):c.877+1G>A	GATB	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation deficiency 41	GUncertain significance
Select item 2223291	NM_004564.3(GATB):c.827G>A (p.Arg276Gln)	GATB (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655128	NM_004564.3(GATB):c.823G>A (p.Val275Ile)	GATB (V275I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3037218	NM_004564.3(GATB):c.796G>A (p.Val266Met)	GATB (V266M)	Single nucleotide variant (missense variant)	GATB-related disorder	GLikely benign
Select item 3098788	NM_004564.3(GATB):c.788A>G (p.Asn263Ser)	GATB (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655129	NM_004564.3(GATB):c.718C>T (p.Gln240Ter)	GATB (Q240*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2618174	NM_004564.3(GATB):c.707T>A (p.Val236Asp)	GATB (V236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272889	NM_004564.3(GATB):c.696G>A (p.Ala232=)	GATB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3039086	NM_004564.3(GATB):c.695C>T (p.Ala232Val)	GATB (A232V)	Single nucleotide variant (missense variant)	GATB-related disorder	GLikely benign
Select item 2282053	NM_004564.3(GATB):c.688G>A (p.Glu230Lys)	GATB (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286986	NM_004564.3(GATB):c.622A>G (p.Ile208Val)	GATB (I208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559411	NM_004564.3(GATB):c.580_581del (p.Ser194fs)	GATB (S194fs)	Deletion (frameshift variant)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 2376281	NM_004564.3(GATB):c.545C>T (p.Thr182Met)	GATB (T182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098787	NM_004564.3(GATB):c.536T>A (p.Ile179Asn)	GATB (I179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491708	NM_004564.3(GATB):c.532G>A (p.Val178Met)	GATB (V178M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3045493	NM_004564.3(GATB):c.515G>T (p.Gly172Val)	GATB (G172V)	Single nucleotide variant (missense variant)	GATB-related disorder	GLikely benign
Select item 2557185	NM_004564.3(GATB):c.512C>T (p.Ala171Val)	GATB (A171V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350044	NM_004564.3(GATB):c.498A>G (p.Ile166Met)	GATB (I166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239982	NM_004564.3(GATB):c.441+190G>A	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3098785	NM_004564.3(GATB):c.424T>G (p.Phe142Val)	GATB (F142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559412	NM_004564.3(GATB):c.408T>G (p.Phe136Leu)	GATB (F136L)	Single nucleotide variant (missense variant)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 3280876	NM_004564.3(GATB):c.398A>T (p.Lys133Met)	GATB (K133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492362	NM_004564.3(GATB):c.342G>T (p.Arg114Ser)	GATB (R114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225754	NM_004564.3(GATB):c.327+202T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249254	NM_004564.3(GATB):c.327+108T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3098784	NM_004564.3(GATB):c.326C>T (p.Pro109Leu)	GATB (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098783	NM_004564.3(GATB):c.310C>G (p.Leu104Val)	GATB (L104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047167	NM_004564.3(GATB):c.287T>C (p.Leu96Ser)	GATB (L96S)	Single nucleotide variant (missense variant)	GATB-related disorder	GLikely benign
Select item 2457552	NM_004564.3(GATB):c.275C>T (p.Pro92Leu)	GATB (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300300	NM_004564.3(GATB):c.262C>T (p.Arg88Cys)	GATB (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098781	NM_004564.3(GATB):c.257A>C (p.Gln86Pro)	GATB (Q86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098780	NM_004564.3(GATB):c.202G>A (p.Gly68Ser)	GATB (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098779	NM_004564.3(GATB):c.196G>A (p.Val66Met)	GATB (V66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221069	NM_004564.3(GATB):c.191C>T (p.Ala64Val)	GATB (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711598	NM_004564.3(GATB):c.186A>T (p.Lys62Asn)	GATB (K62N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1274372	NM_004564.3(GATB):c.176+7T>C	GATB, LOC129993225	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 41 +1 more	GBenign
Select item 3098776	NM_004564.3(GATB):c.149T>C (p.Leu50Pro)	GATB, LOC129993225 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056747	NM_004564.3(GATB):c.137C>T (p.Ala46Val)	GATB, LOC129993225 (A46V)	Single nucleotide variant (missense variant)	GATB-related disorder	GBenign
Select item 3057509	NM_004564.3(GATB):c.99G>A (p.Gly33=)	GATB, LOC129993225	Single nucleotide variant (synonymous variant)	GATB-related disorder	GLikely benign
Select item 1280003	NM_004564.3(GATB):c.89C>A (p.Ala30Asp)	GATB, LOC129993225 (A30D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2285718	NM_004564.3(GATB):c.64G>C (p.Gly22Arg)	GATB, LOC129993225 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223407	NM_004564.3(GATB):c.58G>A (p.Val20Ile)	GATB, LOC129993225 (V20I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280875	NM_004564.3(GATB):c.53C>T (p.Ala18Val)	GATB, LOC129993225 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617606	NM_004564.3(GATB):c.32G>A (p.Arg11His)	GATB, LOC129993225 (R11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386668	NM_004564.3(GATB):c.28T>C (p.Cys10Arg)	GATB, LOC129993225 (C10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098782	NM_004564.3(GATB):c.26G>T (p.Gly9Val)	GATB, LOC129993225 (G9V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369012	NM_004564.3(GATB):c.25G>T (p.Gly9Cys)	GATB, LOC129993225 (G9C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3046965	NM_004564.3(GATB):c.16C>G (p.Leu6Val)	GATB, LOC129993225 (L6V)	Single nucleotide variant (missense variant)	GATB-related disorder	GLikely benign
Select item 2305755	NM_004564.3(GATB):c.14T>C (p.Met5Thr)	GATB, LOC129993225 (M5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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