ClinVar for Gene (Select 54995) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303779	NM_017897.3(OXSM):c.24C>A (p.Phe8Leu)	OXSM (F8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303778	NM_017897.3(OXSM):c.577A>G (p.Ser193Gly)	OXSM (S193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3207597	NM_017897.3(OXSM):c.834A>C (p.Glu278Asp)	OXSM (E278D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207596	NM_017897.3(OXSM):c.724C>G (p.Pro242Ala)	OXSM (P242A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207595	NM_017897.3(OXSM):c.719T>C (p.Ile240Thr)	OXSM (I240T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207594	NM_017897.3(OXSM):c.1268A>G (p.Asn423Ser)	OXSM (N340S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207593	NM_017897.3(OXSM):c.1037A>G (p.Asn346Ser)	OXSM (N263S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207592	NM_017897.3(OXSM):c.1014G>C (p.Gln338His)	OXSM (Q255H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062692	GRCh37/hg19 3p24.2(chr3:25738308-25974759)x1	NGLY1, OXSM	Copy number loss	not specified	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685075	GRCh37/hg19 3p24.2(chr3:25791211-25912576)x1	NGLY1, OXSM	Copy number loss	not provided	GUncertain significance
Select item 2685074	GRCh37/hg19 3p24.2(chr3:25453857-26021261)x1	NGLY1, OXSM +2 more	Copy number loss	not provided	GUncertain significance
Select item 2615602	NM_017897.3(OXSM):c.740G>C (p.Gly247Ala)	OXSM (G247A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607845	NM_017897.3(OXSM):c.1276C>T (p.Pro426Ser)	OXSM (P343S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552831	NM_017897.3(OXSM):c.275T>C (p.Val92Ala)	OXSM (V92A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522027	NM_017897.3(OXSM):c.43C>T (p.Arg15Cys)	OXSM (R15C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455785	NM_017897.3(OXSM):c.1315A>G (p.Ile439Val)	OXSM (I439V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348719	NM_017897.3(OXSM):c.176C>A (p.Thr59Asn)	OXSM (T59N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329390	NM_017897.3(OXSM):c.1351A>C (p.Asn451His)	OXSM (N368H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318322	NM_017897.3(OXSM):c.122A>G (p.His41Arg)	OXSM (H41R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2301089	NM_017897.3(OXSM):c.256T>C (p.Cys86Arg)	OXSM (C86R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299312	NM_017897.3(OXSM):c.326A>C (p.Lys109Thr)	OXSM (K109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297600	NM_017897.3(OXSM):c.688G>A (p.Val230Met)	OXSM (V230M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293708	NM_017897.3(OXSM):c.229G>A (p.Val77Ile)	OXSM (V77I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237432	NM_017897.3(OXSM):c.1090A>C (p.Lys364Gln)	OXSM (K364Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231717	NM_017897.3(OXSM):c.606T>A (p.Asn202Lys)	OXSM (N202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231316	NM_017897.3(OXSM):c.725C>T (p.Pro242Leu)	OXSM (P242L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219081	NM_017897.3(OXSM):c.568G>T (p.Gly190Cys)	OXSM (G190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 1261139	NM_017897.3(OXSM):c.-76A>C	NGLY1, OXSM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1197281	NM_017897.3(OXSM):c.-54T>G	NGLY1, OXSM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191965	NM_017897.3(OXSM):c.-46G>T	NGLY1, OXSM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 687662	GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1	EFHB, KAT2B +15 more	Copy number loss	not provided	GPathogenic
Select item 687380	GRCh37/hg19 3p24.2(chr3:25791210-25889888)x1	NGLY1, OXSM	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	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 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 47