DMAC2L[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 149334	GRCh38/hg38 14q21.3(chr14:50145165-50325850)x3	DMAC2L, L2HGDH +8 more	Copy number gain	See cases	GLikely benign
Select item 2766149	NM_024884.3(L2HGDH):c.140+17C>G	DMAC2L, L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2573619	NM_024884.3(L2HGDH):c.140+2_140+8del	DMAC2L, L2HGDH	Deletion (splice donor variant +1 more)	L-2-hydroxyglutaric aciduria	GLikely pathogenic
Select item 1991625	NM_024884.3(L2HGDH):c.140+3G>C	DMAC2L, L2HGDH	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3064398	NM_024884.3(L2HGDH):c.140+1G>A	DMAC2L, L2HGDH	Single nucleotide variant (splice donor variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 435697	NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)	DMAC2L, L2HGDH (T46I)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1906528	NM_024884.3(L2HGDH):c.122G>A (p.Ser41Asn)	DMAC2L, L2HGDH (S41N)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2072693	NM_024884.3(L2HGDH):c.121A>G (p.Ser41Gly)	DMAC2L, L2HGDH (S41G)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2186987	NM_024884.3(L2HGDH):c.118G>A (p.Gly40Ser)	DMAC2L, L2HGDH (G40S)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1010586	NM_024884.3(L2HGDH):c.118G>C (p.Gly40Arg)	DMAC2L, L2HGDH (G40R)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1514384	NM_024884.3(L2HGDH):c.115G>A (p.Gly39Arg)	DMAC2L, L2HGDH (G39R)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1956295	NM_024884.3(L2HGDH):c.111G>A (p.Leu37=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +2 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1396989	NM_024884.3(L2HGDH):c.106C>A (p.Pro36Thr)	DMAC2L, L2HGDH (P36T)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 158803	NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser)	DMAC2L, L2HGDH (R33S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1672955	NM_024884.3(L2HGDH):c.90G>A (p.Ala30=)	L2HGDH, DMAC2L	Single nucleotide variant (synonymous variant +2 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2191032	NM_024884.3(L2HGDH):c.77C>T (p.Ala26Val)	DMAC2L, L2HGDH (A26V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 576215	NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)	DMAC2L, L2HGDH (P24S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1560755	NM_024884.3(L2HGDH):c.69C>G (p.Ser23=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +2 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2156713	NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr)	DMAC2L, L2HGDH (S23Y)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 754495	NM_024884.3(L2HGDH):c.60C>T (p.Ala20=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158799	NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)	DMAC2L, L2HGDH (L18R)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +2 more	GBenign/Likely benign
Select item 1301783	NM_024884.3(L2HGDH):c.41G>A (p.Arg14Gln)	DMAC2L, L2HGDH (R14Q)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1550079	NM_024884.3(L2HGDH):c.36C>T (p.Cys12=)	L2HGDH, DMAC2L	Single nucleotide variant (synonymous variant +2 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1716915	NM_024884.3(L2HGDH):c.19T>C (p.Tyr7His)	DMAC2L, L2HGDH (Y7H)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 3289806	NM_024884.3(L2HGDH):c.16C>G (p.Arg6Gly)	DMAC2L, L2HGDH (R6G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1496852	NM_024884.3(L2HGDH):c.11C>G (p.Ala4Gly)	DMAC2L, L2HGDH (A4G)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 559239	NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu)	DMAC2L, L2HGDH (P3L)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +1 more	GConflicting classifications of pathogenicity
Select item 211349	NM_024884.3(L2HGDH):c.6G>T (p.Val2=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1342871	NM_024884.3(L2HGDH):c.1A>G (p.Met1Val)	DMAC2L, L2HGDH (M1V)	Single nucleotide variant (missense variant +3 more)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 3083006	NM_001382507.1(DMAC2L):c.29A>T (p.Gln10Leu)	DMAC2L (Q10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083007	NM_001382507.1(DMAC2L):c.35G>A (p.Cys12Tyr)	DMAC2L (C12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272347	NM_001382507.1(DMAC2L):c.71G>T (p.Arg24Ile)	DMAC2L (R24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082999	NM_001382507.1(DMAC2L):c.71G>C (p.Arg24Thr)	DMAC2L (R24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491098	NM_001382507.1(DMAC2L):c.131A>G (p.Asp44Gly)	DMAC2L (D44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083000	NM_001382507.1(DMAC2L):c.157G>A (p.Glu53Lys)	DMAC2L (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083001	NM_001382507.1(DMAC2L):c.169C>T (p.Arg57Cys)	DMAC2L (R57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272344	NM_001382507.1(DMAC2L):c.208T>C (p.Trp70Arg)	DMAC2L (W70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083002	NM_001382507.1(DMAC2L):c.248A>T (p.Asp83Val)	DMAC2L (D83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083003	NM_001382507.1(DMAC2L):c.280G>A (p.Asp94Asn)	DMAC2L (D94N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083004	NM_001382507.1(DMAC2L):c.350G>A (p.Cys117Tyr)	DMAC2L (C117Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083005	NM_001382507.1(DMAC2L):c.409C>G (p.Gln137Glu)	DMAC2L (Q137E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272346	NM_001382507.1(DMAC2L):c.547G>A (p.Val183Ile)	DMAC2L (V183I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3244040	NC_000014.8:g.(?_50697895)_(51288774_?)dup	ATL1, CDKL1 +6 more	Duplication	Noonan syndrome 9	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527817	GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)	ABHD12B, ATL1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 815655	GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3	NEMF, SAV1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 685088	GRCh37/hg19 14q21.3(chr14:50737668-50799764)x1	CDKL1, DMAC2L +1 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 54