826[geneid] - ClinVar

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Items: 39

	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 2609347	NM_001749.4(CAPNS1):c.47G>C (p.Gly16Ala)	CAPNS1 (G16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307916	NM_001749.4(CAPNS1):c.65G>T (p.Gly22Val)	CAPNS1 (G22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341606	NM_001749.4(CAPNS1):c.89G>A (p.Gly30Glu)	CAPNS1 (G30E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649765	NM_001749.4(CAPNS1):c.135C>A (p.Gly45=)	CAPNS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272245	NM_001749.4(CAPNS1):c.160G>T (p.Gly54Cys)	CAPNS1 (G54C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377111	NM_001749.4(CAPNS1):c.164G>A (p.Gly55Asp)	CAPNS1 (G55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483150	NM_001749.4(CAPNS1):c.199A>G (p.Ser67Gly)	CAPNS1 (S67G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3066189	NM_001749.4(CAPNS1):c.210-2A>G	CAPNS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, primary, 6	GPathogenic
Select item 2362348	NM_001749.4(CAPNS1):c.304C>T (p.Arg102Trp)	CAPNS1 (R102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256162	NM_001749.4(CAPNS1):c.305G>A (p.Arg102Gln)	CAPNS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360951	NM_001749.4(CAPNS1):c.329G>C (p.Gly110Ala)	CAPNS1 (G110A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214759	NM_001749.4(CAPNS1):c.433C>T (p.Arg145Cys)	CAPNS1 (R145C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137207	NM_001749.4(CAPNS1):c.543C>A (p.Phe181Leu)	CAPNS1 (F69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137208	NM_001749.4(CAPNS1):c.565A>T (p.Ile189Phe)	CAPNS1 (I77F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611134	NM_001749.4(CAPNS1):c.625C>T (p.Leu209Phe)	CAPNS1 (L209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607276	NM_001749.4(CAPNS1):c.629A>G (p.Tyr210Cys)	CAPNS1 (Y210C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024742	NM_001749.4(CAPNS1):c.711C>T (p.Asp237=)	CAPNS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341710	NM_001749.4(CAPNS1):c.712G>A (p.Ala238Thr)	CAPNS1 (A238T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066188	NM_001749.4(CAPNS1):c.721+1G>A	CAPNS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 6	GPathogenic
Select item 2277797	NM_001749.4(CAPNS1):c.743A>G (p.Lys248Arg)	CAPNS1 (K248R +1 more)	Single nucleotide variant (missense variant)	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 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685424	GRCh37/hg19 19q13.12(chr19:36570287-36655341)x3	CAPNS1, COX7A1 +4 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 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 395045	GRCh37/hg19 19q13.12(chr19:36606538-36643669)x3	TBCB, CAPNS1 +1 more	Copy number gain	See cases	GUncertain significance
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: 39