ADPGK-AS1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 3273520	NM_001365225.1(ADPGK):c.187G>T (p.Ala63Ser)	ADPGK, ADPGK-AS1 +1 more (A63S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090135	NM_001365225.1(ADPGK):c.187G>A (p.Ala63Thr)	ADPGK, ADPGK-AS1 +1 more (A63T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2518516	NM_001365225.1(ADPGK):c.173C>T (p.Ala58Val)	ADPGK, ADPGK-AS1 +1 more (A58V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090131	NM_001365225.1(ADPGK):c.155C>T (p.Ser52Phe)	ADPGK, ADPGK-AS1 +1 more (S52F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2251335	NM_001365225.1(ADPGK):c.121C>G (p.Leu41Val)	ADPGK, ADPGK-AS1 +1 more (L41V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3273530	NM_001365225.1(ADPGK):c.101C>T (p.Ser34Phe)	ADPGK, ADPGK-AS1 +1 more (S34F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3273478	NM_001365225.1(ADPGK):c.36C>A (p.Phe12Leu)	ADPGK, ADPGK-AS1 +1 more (F12L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2601474	NM_001365225.1(ADPGK):c.34T>A (p.Phe12Ile)	ADPGK, ADPGK-AS1 +1 more (F12I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090127	NM_001365225.1(ADPGK):c.13C>T (p.Arg5Cys)	ADPGK, ADPGK-AS1 +1 more (R5C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance