ACTMAP[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3141704	NM_198476.5(ACTMAP):c.1000C>T (p.Arg334Trp)	ACTMAP (R196W +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3141720	NM_198476.5(ACTMAP):c.979G>A (p.Val327Met)	ACTMAP (V189M +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3141718	NM_198476.5(ACTMAP):c.494C>T (p.Thr165Met)	ACTMAP (T27M +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3141714	NM_198476.5(ACTMAP):c.469C>T (p.Arg157Trp)	ACTMAP (T26M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141711	NM_198476.5(ACTMAP):c.451C>T (p.Pro151Ser)	ACTMAP (P20L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141708	NM_198476.5(ACTMAP):c.187G>A (p.Ala63Thr)	ACTMAP (A63T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic