C1orf146[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 146293	GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3	BRDT, BTBD8 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57784	GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3	BRDT, BTBD8 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2245012	NM_001012425.2(C1orf146):c.301T>C (p.Trp101Arg)	C1orf146 (W101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809458	GRCh37/hg19 1p22.1(chr1:92157808-92714991)x3	BRDT, BTBD8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527159	GRCh37/hg19 1p22.1(chr1:92626657-93345442)	C1orf146, DIPK1A +6 more	Copy number loss	not specified	GPathogenic
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565125	GRCh37/hg19 1p22.1(chr1:92064829-92836061)x3	BTBD8, GLMN +6 more	Copy number gain	not provided	GUncertain significance
Select item 565124	GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3	TGFBR3, GLMN +13 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic