ClinVar for Gene (Select 80145) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177109	NM_025075.4(THOC7):c.250A>G (p.Ile84Val)	C3orf49, THOC7 (I32V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177108	NM_025075.4(THOC7):c.159G>A (p.Met53Ile)	C3orf49, THOC7 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177107	NM_025075.4(THOC7):c.103A>G (p.Ile35Val)	C3orf49, THOC7 (I35V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 2685083	GRCh37/hg19 3p14.1(chr3:63842338-63918773)x1	ATXN7, THOC7	Copy number loss	not provided	GUncertain significance
Select item 2517987	NM_025075.4(THOC7):c.167C>T (p.Thr56Met)	C3orf49, THOC7 (T4M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471482	NM_025075.4(THOC7):c.456T>G (p.Ile152Met)	C3orf49, THOC7 (I100M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393451	NM_025075.4(THOC7):c.578C>T (p.Ala193Val)	C3orf49, THOC7 (A193V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351714	NM_025075.4(THOC7):c.190A>G (p.Met64Val)	C3orf49, THOC7 (M64V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329321	NM_025075.4(THOC7):c.283G>A (p.Ala95Thr)	C3orf49, THOC7 (A95T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294466	NM_025075.4(THOC7):c.414A>C (p.Glu138Asp)	C3orf49, THOC7 (E138D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282529	NM_025075.4(THOC7):c.386A>C (p.His129Pro)	C3orf49, THOC7 (H77P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281578	NM_025075.4(THOC7):c.147G>T (p.Gln49His)	C3orf49, THOC7 (Q49H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2281577	NM_025075.4(THOC7):c.146A>C (p.Gln49Pro)	C3orf49, THOC7 (Q49P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2205281	NM_025075.4(THOC7):c.197A>G (p.Lys66Arg)	C3orf49, THOC7 (K14R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204169	NM_025075.4(THOC7):c.575A>C (p.Glu192Ala)	C3orf49, THOC7 (E192A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 814450	GRCh37/hg19 3p14.2-14.1(chr3:62206958-63944889)x3	C3orf14, ATXN7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814449	GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1	SYNPR, ATXN7 +11 more	Copy number loss	not provided	GPathogenic
Select item 689272	GRCh37/hg19 3p14.2-14.1(chr3:63581340-63839701)x3	SNTN, SYNPR +1 more	Copy number gain	not provided	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 685135	GRCh37/hg19 3p14.2-14.1(chr3:60844727-63983596)x1	ATXN7, C3orf14 +7 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 150515	GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1	ATXN7, C3orf49 +24 more	Copy number loss	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +105 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 29