MANBAL[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 2464681	NM_001003897.2(MANBAL):c.29C>G (p.Pro10Arg)	MANBAL (P10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225418	NM_001003897.2(MANBAL):c.46A>C (p.Thr16Pro)	MANBAL (T16P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474916	NM_001003897.2(MANBAL):c.116C>T (p.Ala39Val)	MANBAL (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610937	NM_001003897.2(MANBAL):c.188C>T (p.Thr63Met)	MANBAL (T63M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389932	NM_001003897.2(MANBAL):c.208G>C (p.Val70Leu)	MANBAL (V70L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608586	NM_001003897.2(MANBAL):c.240G>C (p.Glu80Asp)	MANBAL (E80D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic