ClinVar for Gene (Select 126393) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284960	NM_144617.3(HSPB6):c.64C>T (p.Leu22Phe)	HSPB6 (L22F)	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 3107372	NM_144617.3(HSPB6):c.368T>C (p.Leu123Pro)	HSPB6 (L123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107371	NM_144617.3(HSPB6):c.118G>A (p.Ala40Thr)	HSPB6 (A40T)	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 2681322	NM_144617.3(HSPB6):c.336C>T (p.Phe112=)	HSPB6	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2649754	NM_144617.3(HSPB6):c.462A>T (p.Pro154=)	HSPB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591713	NM_144617.3(HSPB6):c.68C>T (p.Ser23Leu)	HSPB6 (S23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514131	NM_144617.3(HSPB6):c.464C>T (p.Pro155Leu)	HSPB6 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478200	NM_144617.3(HSPB6):c.392C>T (p.Ala131Val)	HSPB6 (A131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2394460	NM_144617.3(HSPB6):c.364C>T (p.Arg122Cys)	HSPB6 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386258	NM_144617.3(HSPB6):c.310G>A (p.Glu104Lys)	HSPB6 (E104K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362731	NM_144617.3(HSPB6):c.376G>A (p.Gly126Ser)	HSPB6 (G126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270154	NM_144617.3(HSPB6):c.322G>A (p.Asp108Asn)	HSPB6 (D108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205390	NM_144617.3(HSPB6):c.472G>A (p.Ala158Thr)	HSPB6 (A158T)	Single nucleotide variant (missense variant)	not specified	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 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	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 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	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 221541	GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3	HSPB6, IGFLR1 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221399	GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3	ARHGAP33, HSPB6 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32