25190[HGNC] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 150515	GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1	ATXN7, C3orf49 +25 more	Copy number loss	See cases	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 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 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 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 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 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 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 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 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 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 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 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