ADGRD1-AS1[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 147915	GRCh38/hg38 12q24.33(chr12:130965828-131650601)x3	ADGRD1, ADGRD1-AS1 +22 more	Copy number gain	See cases	GBenign
Select item 3084483	NM_198827.5(ADGRD1):c.838A>C (p.Ile280Leu)	ADGRD1, ADGRD1-AS1 (I312L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556273	NM_198827.5(ADGRD1):c.838A>G (p.Ile280Val)	ADGRD1, ADGRD1-AS1 (I280V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546985	NM_198827.5(ADGRD1):c.938C>T (p.Ser313Leu)	ADGRD1, ADGRD1-AS1 (S313L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance