DMAC2[gene] - ClinVar

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Items: 41

	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 3082998	NM_018035.3(DMAC2):c.763G>A (p.Val255Ile)	DMAC2, LOC110121465 (V234I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3272339	NM_018035.3(DMAC2):c.746G>C (p.Arg249Pro)	DMAC2, LOC110121465 (R255P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082996	NM_018035.3(DMAC2):c.746G>A (p.Arg249Gln)	DMAC2, LOC110121465 (R249Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3082995	NM_018035.3(DMAC2):c.719T>C (p.Leu240Pro)	DMAC2, LOC110121465 (L246P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3082994	NM_018035.3(DMAC2):c.709G>A (p.Ala237Thr)	DMAC2, LOC110121465 (G170D +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3272343	NM_018035.3(DMAC2):c.706T>G (p.Trp236Gly)	DMAC2, LOC110121465 (L169R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3082993	NM_018035.3(DMAC2):c.692T>C (p.Val231Ala)	DMAC2, LOC110121465 (V204A +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 684521	NM_018035.3(DMAC2):c.688G>A (p.Glu230Lys)	DMAC2, LOC110121465 (E203K +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	Gnot provided
Select item 3082992	NM_018035.3(DMAC2):c.687C>T (p.Cys229=)	DMAC2, LOC110121465 (A181V +4 more)	Single nucleotide variant (synonymous variant +4 more)	not specified	GLikely benign
Select item 3082991	NM_018035.3(DMAC2):c.684T>A (p.Asn228Lys)	DMAC2, LOC110121465 (I174N +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465418	NM_018035.3(DMAC2):c.683A>G (p.Asn228Ser)	DMAC2, LOC110121465 (I147V +7 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3082990	NM_018035.3(DMAC2):c.621G>A (p.Ser207=)	DMAC2, LOC110121465 (R159Q +4 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2554116	NM_018035.3(DMAC2):c.615C>T (p.Asp205=)	DMAC2, LOC110121465 (T124I +4 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3082989	NM_018035.3(DMAC2):c.601C>T (p.Leu201Phe)	DMAC2, LOC110121465 (L201F +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3082988	NM_018035.3(DMAC2):c.577G>A (p.Ala193Thr)	DMAC2 (A172T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520423	NM_018035.3(DMAC2):c.569G>A (p.Arg190Gln)	DMAC2 (R196Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082987	NM_018035.3(DMAC2):c.547G>A (p.Gly183Ser)	DMAC2 (G156S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082986	NM_018035.3(DMAC2):c.502C>T (p.Arg168Cys)	DMAC2 (R174C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082985	NM_018035.3(DMAC2):c.437G>A (p.Arg146His)	DMAC2 (R119H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082984	NM_018035.3(DMAC2):c.415G>A (p.Glu139Lys)	DMAC2 (E139K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548591	NM_018035.3(DMAC2):c.412T>C (p.Tyr138His)	DMAC2 (Y144H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082983	NM_018035.3(DMAC2):c.373C>G (p.Pro125Ala)	DMAC2 (P131A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272342	NM_018035.3(DMAC2):c.367G>A (p.Glu123Lys)	DMAC2 (E102K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537535	NM_018035.3(DMAC2):c.332A>G (p.Tyr111Cys)	DMAC2 (Y84C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618237	NM_018035.3(DMAC2):c.284G>A (p.Gly95Glu)	DMAC2 (G101E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082981	NM_018035.3(DMAC2):c.253G>A (p.Gly85Ser)	DMAC2 (G91S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3082980	NM_018035.3(DMAC2):c.242A>G (p.His81Arg)	DMAC2 (H87R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3272341	NM_018035.3(DMAC2):c.183A>C (p.Gln61His)	DMAC2 (Q67H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082979	NM_018035.3(DMAC2):c.151G>A (p.Asp51Asn)	DMAC2 (D51N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082978	NM_018035.3(DMAC2):c.146T>A (p.Phe49Tyr)	DMAC2 (F55Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535838	NM_018035.3(DMAC2):c.80C>T (p.Ala27Val)	DMAC2 (A33V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649926	NM_018035.3(DMAC2):c.68A>G (p.His23Arg)	DMAC2 (H23R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3272340	NM_018035.3(DMAC2):c.59G>A (p.Arg20Lys)	DMAC2 (R20K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082982	NM_018035.3(DMAC2):c.26G>A (p.Arg9His)	DMAC2 (R15H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 816083	GRCh37/hg19 19q13.2(chr19:41889319-42338832)x3	B3GNT8, BCKDHA +10 more	Copy number gain	not provided	GUncertain significance
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

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Items: 41