HAPLN1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 151704	GRCh38/hg38 5q14.2-14.3(chr5:83470771-83778887)x1	HAPLN1, LOC126807443 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2508607	NM_001884.4(HAPLN1):c.998G>C (p.Arg333Pro)	HAPLN1 (R333P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294008	NM_001884.4(HAPLN1):c.982A>G (p.Thr328Ala)	HAPLN1 (T328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508800	NM_001884.4(HAPLN1):c.819T>G (p.Asp273Glu)	HAPLN1 (D273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471670	NM_001884.4(HAPLN1):c.803C>T (p.Thr268Ile)	HAPLN1 (T268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655579	NM_001884.4(HAPLN1):c.588C>T (p.Asp196=)	HAPLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245960	NM_001884.4(HAPLN1):c.572T>C (p.Phe191Ser)	HAPLN1 (F191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334245	NM_001884.4(HAPLN1):c.506G>T (p.Arg169Leu)	HAPLN1 (R169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357399	NM_001884.4(HAPLN1):c.451G>A (p.Val151Met)	HAPLN1 (V151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392956	NM_001884.4(HAPLN1):c.319G>A (p.Gly107Ser)	HAPLN1 (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293462	NM_001884.4(HAPLN1):c.170T>C (p.Val57Ala)	HAPLN1 (V57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104212	NM_001884.4(HAPLN1):c.85G>A (p.Ala29Thr)	HAPLN1 (A29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484752	NM_001884.4(HAPLN1):c.70C>A (p.Leu24Met)	HAPLN1 (L24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304737	NM_001884.4(HAPLN1):c.62A>G (p.Asn21Ser)	HAPLN1 (N21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684423	GRCh37/hg19 5q14.2-14.3(chr5:82763019-83282008)x3	EDIL3, HAPLN1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527175	GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	ADGRV1, CCNH +15 more	Copy number loss	not specified	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 22