21306[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 3111939	NM_032306.4(ALKBH7):c.11C>T (p.Thr4Ile)	ALKBH7 (T4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111970	NM_032306.4(ALKBH7):c.44C>A (p.Pro15His)	ALKBH7 (P15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293985	NM_032306.4(ALKBH7):c.51G>T (p.Trp17Cys)	ALKBH7 (W17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608249	NM_032306.4(ALKBH7):c.59G>A (p.Gly20Asp)	ALKBH7 (G20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255664	NM_032306.4(ALKBH7):c.178C>T (p.Arg60Cys)	ALKBH7 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333291	NM_032306.4(ALKBH7):c.229G>A (p.Glu77Lys)	ALKBH7 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223818	NM_032306.4(ALKBH7):c.239G>A (p.Arg80His)	ALKBH7 (R80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286955	NM_032306.4(ALKBH7):c.260C>A (p.Ala87Asp)	ALKBH7 (A87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404733	NM_032306.4(ALKBH7):c.281C>T (p.Ala94Val)	ALKBH7 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322729	NM_032306.4(ALKBH7):c.298G>C (p.Gly100Arg)	ALKBH7 (G100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491015	NM_032306.4(ALKBH7):c.368A>T (p.Asp123Val)	ALKBH7 (D123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605420	NM_032306.4(ALKBH7):c.404T>C (p.Leu135Pro)	ALKBH7 (L135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286945	NM_032306.4(ALKBH7):c.409C>G (p.Leu137Val)	ALKBH7 (L137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615978	NM_032306.4(ALKBH7):c.431G>A (p.Arg144Gln)	ALKBH7 (R144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472697	NM_032306.4(ALKBH7):c.482C>G (p.Pro161Arg)	ALKBH7 (P161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286935	NM_032306.4(ALKBH7):c.494A>G (p.Tyr165Cys)	ALKBH7 (Y165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111979	NM_032306.4(ALKBH7):c.511G>A (p.Ala171Thr)	ALKBH7 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470209	NM_032306.4(ALKBH7):c.512C>G (p.Ala171Gly)	ALKBH7 (A171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553332	NM_032306.4(ALKBH7):c.571C>T (p.Arg191Trp)	ALKBH7 (R191W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111994	NM_032306.4(ALKBH7):c.607C>T (p.Arg203Cys)	ALKBH7 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600899	NM_032306.4(ALKBH7):c.608G>A (p.Arg203His)	ALKBH7 (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 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: 34