3017[HGNC] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	CCDC18, CCDC18-AS1 +39 more	Copy number loss	See cases	GPathogenic
Select item 2378920	NM_001938.3(DR1):c.122A>G (p.Asn41Ser)	DR1 (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540174	NM_001938.3(DR1):c.244T>C (p.Ser82Pro)	DR1 (S82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528886	NM_001938.3(DR1):c.524A>G (p.Asp175Gly)	DR1 (D175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

ClinVar