ClinVar for Gene (Select 728215) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298407	NM_001080396.3(NALF1):c.23G>C (p.Cys8Ser)	NALF1 (C8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298406	NM_001080396.3(NALF1):c.503T>C (p.Leu168Pro)	NALF1 (L168P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298405	NM_001080396.3(NALF1):c.39C>G (p.Asp13Glu)	NALF1 (D13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298404	NM_001080396.3(NALF1):c.352C>G (p.Gln118Glu)	NALF1 (Q118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3174429	NM_001080396.3(NALF1):c.991A>G (p.Lys331Glu)	NALF1 (K331E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174424	NM_001080396.3(NALF1):c.86T>G (p.Phe29Cys)	NALF1 (F29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174414	NM_001080396.3(NALF1):c.72G>C (p.Glu24Asp)	NALF1 (E24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174402	NM_001080396.3(NALF1):c.596C>T (p.Ala199Val)	NALF1 (A199V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174393	NM_001080396.3(NALF1):c.493G>C (p.Val165Leu)	NALF1 (V165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174386	NM_001080396.3(NALF1):c.418G>A (p.Gly140Ser)	NALF1 (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174382	NM_001080396.3(NALF1):c.410A>C (p.Asp137Ala)	NALF1 (D137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174379	NM_001080396.3(NALF1):c.388A>C (p.Thr130Pro)	NALF1 (T130P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174368	NM_001080396.3(NALF1):c.373G>A (p.Ala125Thr)	NALF1 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174362	NM_001080396.3(NALF1):c.341C>G (p.Ser114Trp)	NALF1 (S114W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174360	NM_001080396.3(NALF1):c.138G>C (p.Leu46Phe)	NALF1 (L46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174356	NM_001080396.3(NALF1):c.136T>G (p.Leu46Val)	NALF1 (L46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174350	NM_001080396.3(NALF1):c.1286C>G (p.Thr429Arg)	NALF1 (T429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174347	NM_001080396.3(NALF1):c.1228A>G (p.Thr410Ala)	NALF1 (T410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174344	NM_001080396.3(NALF1):c.1193C>A (p.Ser398Tyr)	NALF1 (S398Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174341	NM_001080396.3(NALF1):c.1178T>C (p.Val393Ala)	NALF1 (V393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174337	NM_001080396.3(NALF1):c.1178T>A (p.Val393Glu)	NALF1 (V393E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174334	NM_001080396.3(NALF1):c.1157A>G (p.Asn386Ser)	NALF1 (N386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063296	GRCh37/hg19 13q33.1-33.3(chr13:103694735-109007552)x1	ABHD13, ARGLU1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3063276	GRCh37/hg19 13q33.3(chr13:107440465-109161884)x1	ABHD13, LIG4 +2 more	Copy number loss	not specified	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2643929	NM_001080396.3(NALF1):c.230_238del (p.Arg77_Gln79del)	NALF1	Deletion (inframe_deletion)	not provided	GBenign
Select item 2643928	NM_001080396.3(NALF1):c.1305A>G (p.Ala435=)	NALF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604585	NM_001080396.3(NALF1):c.533C>T (p.Ser178Leu)	NALF1 (S178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2544153	NM_001080396.3(NALF1):c.583T>C (p.Trp195Arg)	NALF1 (W195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522696	NM_001080396.3(NALF1):c.380C>T (p.Ser127Leu)	NALF1 (S127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484102	NM_001080396.3(NALF1):c.868T>G (p.Leu290Val)	NALF1 (L290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479865	NM_001080396.3(NALF1):c.364C>T (p.Leu122Phe)	NALF1 (L122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465436	NM_001080396.3(NALF1):c.638C>T (p.Thr213Ile)	NALF1 (T213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456304	NM_001080396.3(NALF1):c.599C>T (p.Ala200Val)	NALF1 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1809231	GRCh37/hg19 13q33.3(chr13:107589261-108572861)x3	NALF1	Copy number gain	not provided	GUncertain significance
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808473	GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1	ABHD13, ARGLU1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527799	GRCh37/hg19 13q33.3(chr13:108035809-110195659)	TNFSF13B, ABHD13 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340312	GRCh37/hg19 13q33.3(chr13:107775876-108200590)x3	NALF1	Copy number gain	not provided	GLikely benign
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815624	GRCh37/hg19 13q33.3(chr13:107756069-108199533)x3	NALF1	Copy number gain	not provided	GLikely benign
Select item 815623	GRCh37/hg19 13q33.3(chr13:107616571-108237036)x3	NALF1	Copy number gain	not provided	GUncertain significance
Select item 815620	GRCh37/hg19 13q33.1-33.3(chr13:104521177-109327788)x1	ARGLU1, ABHD13 +7 more	Copy number loss	not provided	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 688676	GRCh37/hg19 13q33.3-34(chr13:108139800-111231833)x3	ABHD13, COL4A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 564078	GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1	ARGLU1, COL4A1 +24 more	Copy number loss	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564065	GRCh37/hg19 13q33.3(chr13:108035809-110197673)x3	NALF1, ABHD13 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564033	GRCh37/hg19 13q33.3(chr13:107902875-108275593)x1	NALF1	Copy number loss	not provided	GLikely benign
Select item 443746	GRCh37/hg19 13q33.3(chr13:107382604-108238714)x3	NALF1	Copy number gain	See cases	GUncertain significance
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	TGDS, TM9SF2 +97 more	Copy number gain	See cases	GPathogenic
Select item 442271	GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	See cases	GPathogenic

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