28243[HGNC] - ClinVar

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Items: 32

	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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2316985	NM_032878.5(ALKBH6):c.652C>G (p.Arg218Gly)	ALKBH6 (R149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382828	NM_032878.5(ALKBH6):c.599A>C (p.Asn200Thr)	ALKBH6 (N131T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286925	NM_032878.5(ALKBH6):c.521G>A (p.Gly174Asp)	ALKBH6 (G105D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111925	NM_032878.5(ALKBH6):c.499C>T (p.Arg167Cys)	ALKBH6 (R167C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548312	NM_032878.5(ALKBH6):c.443C>A (p.Pro148His)	ALKBH6 (P148H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466607	NM_032878.5(ALKBH6):c.436G>A (p.Asp146Asn)	ALKBH6 (D146N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286915	NM_032878.5(ALKBH6):c.432G>A (p.Glu144=)	ALKBH6 (G160R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2603057	NM_032878.5(ALKBH6):c.424C>T (p.Arg142Trp)	ALKBH6 (R73W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411786	NM_032878.5(ALKBH6):c.406G>A (p.Asp136Asn)	ALKBH6 (D136N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111875	NM_032878.5(ALKBH6):c.343G>A (p.Glu115Lys)	ALKBH6 (E115K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111865	NM_032878.5(ALKBH6):c.284T>C (p.Leu95Pro)	ALKBH6 (L95P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111857	NM_032878.5(ALKBH6):c.275T>C (p.Phe92Ser)	ALKBH6 (F92S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111916	NM_032878.5(ALKBH6):c.-32G>A	ALKBH6 (G18D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062377	GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3	ALKBH6, CAPNS1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2684891	GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	ALKBH6, APLP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	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 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	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 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 395488	GRCh37/hg19 19q13.12(chr19:36428093-36506569)x3	ALKBH6, CLIP3 +3 more	Copy number gain	See cases	GLikely benign
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance

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Items: 32