HAPLN2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 57814	GRCh38/hg38 1q22-23.1(chr1:156593261-156653428)x3	BCAN, BCAN-AS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 3283467	NM_021817.3(HAPLN2):c.7G>A (p.Gly3Ser)	HAPLN2 (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270658	NM_021817.3(HAPLN2):c.16A>G (p.Thr6Ala)	HAPLN2 (T6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718728	NM_021817.3(HAPLN2):c.72C>T (p.Ala24=)	HAPLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3383293	NM_021817.3(HAPLN2):c.166C>T (p.Pro56Ser)	HAPLN2 (P56S)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GUncertain significance
Select item 3283464	NM_021817.3(HAPLN2):c.194G>C (p.Ser65Thr)	HAPLN2 (S65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283469	NM_021817.3(HAPLN2):c.220G>C (p.Glu74Gln)	HAPLN2 (E74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569238	NM_021817.3(HAPLN2):c.275G>A (p.Arg92Gln)	HAPLN2 (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328292	NM_021817.3(HAPLN2):c.286C>T (p.Pro96Ser)	HAPLN2 (P96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283465	NM_021817.3(HAPLN2):c.352G>T (p.Val118Leu)	HAPLN2 (V118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283471	NM_021817.3(HAPLN2):c.366C>A (p.Asp122Glu)	HAPLN2 (D122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104213	NM_021817.3(HAPLN2):c.400A>G (p.Ile134Val)	HAPLN2 (I134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276023	NM_021817.3(HAPLN2):c.400A>C (p.Ile134Leu)	HAPLN2 (I134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276024	NM_021817.3(HAPLN2):c.402C>G (p.Ile134Met)	HAPLN2 (I134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782390	NM_021817.3(HAPLN2):c.415G>T (p.Val139Leu)	HAPLN2 (V139L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283468	NM_021817.3(HAPLN2):c.614G>C (p.Arg205Pro)	HAPLN2 (R205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283466	NM_021817.3(HAPLN2):c.620C>T (p.Pro207Leu)	HAPLN2 (P207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228846	NM_021817.3(HAPLN2):c.649G>T (p.Gly217Cys)	HAPLN2 (G217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283463	NM_021817.3(HAPLN2):c.653G>A (p.Arg218Gln)	HAPLN2 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537522	NM_021817.3(HAPLN2):c.685C>T (p.Arg229Cys)	HAPLN2 (R229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104215	NM_021817.3(HAPLN2):c.692G>C (p.Arg231Pro)	HAPLN2 (R231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104216	NM_021817.3(HAPLN2):c.745G>C (p.Val249Leu)	HAPLN2 (V249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290335	NM_021817.3(HAPLN2):c.770C>G (p.Thr257Arg)	HAPLN2 (T257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266061	NM_021817.3(HAPLN2):c.829C>T (p.His277Tyr)	HAPLN2 (H277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272197	NM_021817.3(HAPLN2):c.874G>T (p.Gly292Cys)	HAPLN2 (G292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210563	NM_021817.3(HAPLN2):c.886G>A (p.Ala296Thr)	HAPLN2 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104217	NM_021817.3(HAPLN2):c.925C>G (p.Pro309Ala)	HAPLN2 (P309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104218	NM_021817.3(HAPLN2):c.934G>T (p.Gly312Trp)	HAPLN2 (G312W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104219	NM_021817.3(HAPLN2):c.935G>A (p.Gly312Glu)	HAPLN2 (G312E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283470	NM_021817.3(HAPLN2):c.938G>A (p.Gly313Glu)	HAPLN2 (G313E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685699	GRCh37/hg19 1q22-23.1(chr1:156486831-156590431)x1	GPATCH4, HAPLN2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
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

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Items: 51