30252[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 3171824	NM_001200016.2(NAA80):c.841T>G (p.Trp281Gly)	HYAL3, NAA80 (W281G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593081	NM_001200016.2(NAA80):c.829C>T (p.Arg277Cys)	HYAL3, NAA80 (R277C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465236	NM_001200016.2(NAA80):c.779G>A (p.Gly260Glu)	HYAL3, NAA80 (G260E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459999	NM_001200016.2(NAA80):c.733C>G (p.Pro245Ala)	HYAL3, NAA80 (P245A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298286	NM_001200016.2(NAA80):c.695C>T (p.Ala232Val)	HYAL3, NAA80 (A232V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171816	NM_001200016.2(NAA80):c.656G>A (p.Arg219Gln)	HYAL3, NAA80 (R219Q +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GLikely benign
Select item 3171812	NM_001200016.2(NAA80):c.620C>G (p.Thr207Ser)	HYAL3, NAA80 (T229S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171807	NM_001200016.2(NAA80):c.608G>A (p.Arg203Gln)	HYAL3, NAA80 (R203Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171799	NM_001200016.2(NAA80):c.548A>G (p.Tyr183Cys)	HYAL3, NAA80 (Y205C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171796	NM_001200016.2(NAA80):c.547T>A (p.Tyr183Asn)	HYAL3, NAA80 (Y183N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171790	NM_001200016.2(NAA80):c.508C>T (p.Arg170Cys)	HYAL3, NAA80 (R170C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298284	NM_001200016.2(NAA80):c.470T>C (p.Met157Thr)	HYAL3, NAA80 (M179T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171787	NM_001200016.2(NAA80):c.461G>A (p.Arg154His)	HYAL3, NAA80 (R176H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171785	NM_001200016.2(NAA80):c.415G>A (p.Glu139Lys)	HYAL3, NAA80 (E161K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171783	NM_001200016.2(NAA80):c.359T>C (p.Val120Ala)	HYAL3, NAA80 (V120A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171782	NM_001200016.2(NAA80):c.343G>A (p.Glu115Lys)	HYAL3, NAA80 (E137K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171781	NM_001200016.2(NAA80):c.331C>G (p.His111Asp)	HYAL3, NAA80 (H111D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524092	NM_001200016.2(NAA80):c.331C>A (p.His111Asn)	HYAL3, NAA80 (H133N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1301869	NM_001200016.2(NAA80):c.323T>C (p.Leu108Pro)	HYAL3, NAA80 (L108P +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 3171779	NM_001200016.2(NAA80):c.254G>A (p.Arg85His)	HYAL3, NAA80 (R107H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171772	NM_001200016.2(NAA80):c.206C>T (p.Pro69Leu)	HYAL3, NAA80 (P69L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171768	NM_001200016.2(NAA80):c.200G>A (p.Arg67His)	HYAL3, NAA80 (R89H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171766	NM_001200016.2(NAA80):c.188A>T (p.Glu63Val)	HYAL3, NAA80 (E63V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298285	NM_001200016.2(NAA80):c.151G>C (p.Glu51Gln)	HYAL3, NAA80 (E51Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171763	NM_001200016.2(NAA80):c.116C>T (p.Thr39Ile)	HYAL3, NAA80 (T61I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171803	NM_001200016.2(NAA80):c.-3C>T	HYAL3, NAA80 (R22W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3171775	NM_001200016.2(NAA80):c.-36G>A	HYAL3, NAA80 (A11T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 221434	GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3	CACNA2D2, CYB561D2 +13 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 37