ClinVar for Gene (Select 51440) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 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 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 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 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
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 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

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Links from Gene

Items: 24