8893[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 146251	GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3	ABCC5, ABCC5-AS1 +41 more	Copy number gain	See cases	GLikely benign
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 1177820	NC_000003.12:g.184134987C>A	EIF2B5, EIF2B5-DT	Single nucleotide variant	not provided	GBenign
Select item 344322	NM_003907.2(EIF2B5):c.-313A>G	EIF2B5, EIF2B5-DT	Single nucleotide variant (non-coding transcript variant)	Vanishing white matter disease +1 more	GBenign
Select item 344323	NM_003907.2(EIF2B5):c.-203C>A	EIF2B5, EIF2B5-DT	Single nucleotide variant (non-coding transcript variant)	Vanishing white matter disease	GUncertain significance
Select item 344324	NM_003907.2(EIF2B5):c.-155T>C	EIF2B5, EIF2B5-DT	Single nucleotide variant (non-coding transcript variant)	Vanishing white matter disease	GUncertain significance
Select item 344325	NM_003907.2(EIF2B5):c.-153T>G	EIF2B5, EIF2B5-DT	Single nucleotide variant (non-coding transcript variant)	Vanishing white matter disease	GUncertain significance
Select item 344326	NM_003907.2(EIF2B5):c.-150G>C	EIF2B5, EIF2B5-DT	Single nucleotide variant (non-coding transcript variant)	Vanishing white matter disease	GUncertain significance
Select item 344327	NM_003907.2(EIF2B5):c.-117C>T	EIF2B5, LOC129938040	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 344328	NM_003907.2(EIF2B5):c.-103C>G	LOC129938040, EIF2B5	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 1675939	NC_000003.12:g.184135287G>A	EIF2B5, LOC129938040	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 3061575	NM_003907.3(EIF2B5):c.-6A>G	EIF2B5	Single nucleotide variant (5 prime UTR variant)	EIF2B5-related disorder	GLikely benign
Select item 1067397	NM_003907.3(EIF2B5):c.3G>C (p.Met1Ile)	EIF2B5 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 931047	NM_003907.3(EIF2B5):c.5C>T (p.Ala2Val)	EIF2B5 (A2V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2731839	NM_003907.3(EIF2B5):c.6G>A (p.Ala2=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103227	NM_003907.3(EIF2B5):c.7G>A (p.Ala3Thr)	EIF2B5 (A3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171898	NM_003907.3(EIF2B5):c.10C>T (p.Pro4Ser)	EIF2B5 (P4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107196	NM_003907.3(EIF2B5):c.12T>C (p.Pro4=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187860	NM_003907.3(EIF2B5):c.15A>G (p.Val5=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097807	NM_003907.3(EIF2B5):c.18G>A (p.Val6=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693191	NM_003907.3(EIF2B5):c.21G>A (p.Ala7=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973029	NM_003907.3(EIF2B5):c.21G>C (p.Ala7=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792026	NM_003907.3(EIF2B5):c.24G>A (p.Pro8=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535639	NM_003907.3(EIF2B5):c.24G>T (p.Pro8=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100444	NM_003907.3(EIF2B5):c.27T>G (p.Pro9=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974643	NM_003907.3(EIF2B5):c.33G>A (p.Val11=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585846	NM_003907.3(EIF2B5):c.37G>A (p.Val13Ile)	EIF2B5 (V13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698386	NM_003907.3(EIF2B5):c.42T>C (p.Ser14=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119676	NM_003907.3(EIF2B5):c.43C>T (p.Arg15Trp)	EIF2B5 (R15W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140378	NM_003907.3(EIF2B5):c.44G>T (p.Arg15Leu)	EIF2B5 (R15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539251	NM_003907.3(EIF2B5):c.45G>A (p.Arg15=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662452	NM_003907.3(EIF2B5):c.56G>T (p.Arg19Leu)	EIF2B5 (R19L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1103997	NM_003907.3(EIF2B5):c.57C>T (p.Arg19=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092314	NM_003907.3(EIF2B5):c.59G>A (p.Ser20Asn)	EIF2B5 (S20N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735745	NM_003907.3(EIF2B5):c.60C>T (p.Ser20=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912253	NM_003907.3(EIF2B5):c.61G>A (p.Gly21Ser)	EIF2B5 (G21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1588432	NM_003907.3(EIF2B5):c.65C>T (p.Ala22Val)	EIF2B5 (A22V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1077860	NM_003907.3(EIF2B5):c.66G>T (p.Ala22=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797973	NM_003907.3(EIF2B5):c.66G>A (p.Ala22=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002207	NM_003907.3(EIF2B5):c.69G>T (p.Gly23=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647324	NM_003907.3(EIF2B5):c.69G>A (p.Gly23=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748983	NM_003907.3(EIF2B5):c.72G>A (p.Pro24=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717936	NM_003907.3(EIF2B5):c.74G>T (p.Gly25Val)	EIF2B5, LOC129938041 (G25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1138767	NM_003907.3(EIF2B5):c.75A>G (p.Gly25=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902542	NM_003907.3(EIF2B5):c.78C>T (p.Gly26=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933452	NM_003907.3(EIF2B5):c.81C>T (p.Ser27=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087905	NM_003907.3(EIF2B5):c.82G>A (p.Gly28Ser)	EIF2B5, LOC129938041 (G28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2828108	NM_003907.3(EIF2B5):c.84T>C (p.Gly28=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135601	NM_003907.3(EIF2B5):c.84T>A (p.Gly28=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916859	NM_003907.3(EIF2B5):c.87C>T (p.Gly29=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672457	NM_003907.3(EIF2B5):c.87C>A (p.Gly29=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417403	NM_003907.3(EIF2B5):c.88G>T (p.Gly30Trp)	EIF2B5, LOC129938041 (G30W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413278	NM_003907.3(EIF2B5):c.95C>G (p.Ala32Gly)	EIF2B5, LOC129938041 (A32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162188	NM_003907.3(EIF2B5):c.102G>A (p.Gly34=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807679	NM_003907.3(EIF2B5):c.105G>T (p.Ala35=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124314	NM_003907.3(EIF2B5):c.105G>C (p.Ala35=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572964	NM_003907.3(EIF2B5):c.108G>A (p.Glu36=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585992	NM_003907.3(EIF2B5):c.114A>G (p.Glu38=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 344329	NM_003907.3(EIF2B5):c.115C>G (p.Pro39Ala)	EIF2B5, LOC129938041 (P39A)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1989877	NM_003907.3(EIF2B5):c.121C>T (p.Pro41Ser)	EIF2B5, LOC129938041 (P41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875056	NM_003907.3(EIF2B5):c.123G>A (p.Pro41=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100690	NM_003907.3(EIF2B5):c.127C>T (p.Leu43=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550277	NM_003907.3(EIF2B5):c.129A>G (p.Leu43=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001691	NM_003907.3(EIF2B5):c.133G>A (p.Ala45Thr)	EIF2B5, LOC129938041 (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976615	NM_003907.3(EIF2B5):c.134C>G (p.Ala45Gly)	EIF2B5, LOC129938041 (A45G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1632694	NM_003907.3(EIF2B5):c.135A>C (p.Ala45=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160507	NM_003907.3(EIF2B5):c.135A>G (p.Ala45=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142794	NM_003907.3(EIF2B5):c.139C>A (p.Leu47Met)	EIF2B5, LOC129938041 (L47M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1103733	NM_003907.3(EIF2B5):c.139C>T (p.Leu47=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911287	NM_003907.3(EIF2B5):c.150T>C (p.Asp50=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863109	NM_003907.3(EIF2B5):c.165C>T (p.Arg55=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5951	NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val)	EIF2B5, LOC129938041 (F56V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 5952	NM_003907.3(EIF2B5):c.167T>G (p.Phe56Cys)	EIF2B5, LOC129938041 (F56C)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GPathogenic
Select item 1372063	NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser)	EIF2B5, LOC129938041 (F57S)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 3002226	NM_003907.3(EIF2B5):c.171C>T (p.Phe57=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957550	NM_003907.3(EIF2B5):c.173C>G (p.Pro58Arg)	EIF2B5, LOC129938041 (P58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889099	NM_003907.3(EIF2B5):c.177C>T (p.Ile59=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163790	NM_003907.3(EIF2B5):c.179C>T (p.Ser60Phe)	EIF2B5, LOC129938041 (S60F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 344330	NM_003907.3(EIF2B5):c.182A>G (p.Lys61Arg)	EIF2B5, LOC129938041 (K61R)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2441991	NM_003907.3(EIF2B5):c.185A>T (p.Asp62Val)	EIF2B5 (D62V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 939521	NM_003907.3(EIF2B5):c.195+1G>T	EIF2B5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1129405	NM_003907.3(EIF2B5):c.195+7G>T	EIF2B5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655465	NM_003907.3(EIF2B5):c.195+9C>A	EIF2B5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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