10380[HGNC] - ClinVar

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Items: 21

	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 3042088	NM_033362.3(MRPS12):c.-272G>A	LOC130064387, MRPS12 +1 more	Single nucleotide variant (5 prime UTR variant)	MRPS12-related disorder	GLikely benign
Select item 2541765	NM_033362.4(MRPS12):c.56C>T (p.Ala19Val)	MRPS12 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553782	NM_033362.4(MRPS12):c.124C>T (p.Pro42Ser)	MRPS12 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649828	NM_033362.4(MRPS12):c.135G>A (p.Pro45=)	MRPS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364603	NM_033362.4(MRPS12):c.139C>T (p.Arg47Trp)	MRPS12 (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326313	NM_033362.4(MRPS12):c.144G>T (p.Lys48Asn)	MRPS12 (K48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394471	NM_033362.4(MRPS12):c.193A>G (p.Thr65Ala)	MRPS12 (T65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377069	NM_033362.4(MRPS12):c.265C>T (p.Arg89Cys)	MRPS12 (R89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208602	NM_033362.4(MRPS12):c.266G>A (p.Arg89His)	MRPS12 (R89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208604	NM_033362.4(MRPS12):c.335G>A (p.Gly112Asp)	MRPS12 (G112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208608	NM_033362.4(MRPS12):c.412A>G (p.Lys138Glu)	MRPS12 (K138E)	Single nucleotide variant (missense variant)	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 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	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	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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

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Items: 21