C3orf20[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 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
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 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 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 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 2653585	NM_032137.5(C3orf20):c.444C>T (p.Leu148=)	C3orf20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252574	NM_032137.5(C3orf20):c.478A>G (p.Met160Val)	C3orf20 (M160V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2653586	NM_032137.5(C3orf20):c.513G>A (p.Arg171=)	C3orf20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245105	NM_032137.5(C3orf20):c.815G>A (p.Ser272Asn)	C3orf20 (S150N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396677	NM_032137.5(C3orf20):c.1177G>A (p.Val393Ile)	C3orf20 (V271I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 818171	NM_032137.5(C3orf20):c.1309A>G (p.Thr437Ala)	C3orf20 (T315A +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2653587	NM_032137.5(C3orf20):c.1320A>G (p.Pro440=)	C3orf20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343441	NM_032137.5(C3orf20):c.1526C>T (p.Ser509Leu)	C3orf20 (S387L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135999	NM_032137.5(C3orf20):c.1898G>A (p.Arg633Gln)	C3orf20 (R511Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250128	NM_032137.5(C3orf20):c.1951C>T (p.Arg651Cys)	C3orf20 (R529C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 818165	NM_032137.5(C3orf20):c.1973G>A (p.Arg658Lys)	C3orf20 (R536K +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2247896	NM_032137.5(C3orf20):c.2332G>A (p.Val778Met)	C3orf20 (V778M +1 more)	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 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
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 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
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

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Items: 33