HPCAL4[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 2545460	NM_016257.4(HPCAL4):c.567G>A (p.Met189Ile)	HPCAL4 (M189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106783	NM_016257.4(HPCAL4):c.448C>T (p.Arg150Cys)	HPCAL4 (R150C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468873	NM_016257.4(HPCAL4):c.427G>A (p.Asp143Asn)	HPCAL4 (D71N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384906	NM_016257.4(HPCAL4):c.416G>A (p.Arg139His)	HPCAL4 (R139H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301025	NM_016257.4(HPCAL4):c.403G>A (p.Val135Met)	HPCAL4 (V135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106782	NM_016257.4(HPCAL4):c.326A>C (p.Asp109Ala)	HPCAL4 (D109A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106781	NM_016257.4(HPCAL4):c.325G>C (p.Asp109His)	HPCAL4 (D109H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358770	NM_016257.4(HPCAL4):c.199C>T (p.His67Tyr)	HPCAL4 (H67Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284714	NM_016257.4(HPCAL4):c.173A>G (p.Tyr58Cys)	HPCAL4 (Y58C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106784	NM_016257.4(HPCAL4):c.64T>C (p.Phe22Leu)	HPCAL4 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685011	GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3	BMP8B, HEYL +6 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 585233	GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3	BMP8B, HEYL +4 more	Copy number gain	not provided	Gnot provided
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394108	GRCh37/hg19 1p34.2(chr1:40125098-40144919)x3	HPCAL4, NT5C1A	Copy number gain	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24