PAN3-AS1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 2479324	NM_175854.8(PAN3):c.41C>T (p.Ala14Val)	LOC130009452, PAN3 +1 more (A14V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208320	NM_175854.8(PAN3):c.50C>A (p.Ser17Tyr)	LOC130009452, PAN3 +1 more (S17Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208321	NM_175854.8(PAN3):c.70G>A (p.Ala24Thr)	LOC130009452, PAN3 +1 more (A24T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1320314	NM_175854.8(PAN3):c.85del (p.Ala29fs)	LOC130009452, PAN3 +1 more (A29fs)	Deletion (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208324	NM_175854.8(PAN3):c.98T>G (p.Val33Gly)	LOC130009452, PAN3 +1 more (V33G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208313	NM_175854.8(PAN3):c.124G>T (p.Val42Leu)	PAN3, PAN3-AS1 (V42L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208314	NM_175854.8(PAN3):c.127G>A (p.Gly43Arg)	PAN3, PAN3-AS1 (G43R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208464	NM_175854.8(PAN3):c.278C>G (p.Ala93Gly)	LOC130009453, PAN3 +1 more (A93G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2232339	NM_175854.8(PAN3):c.308T>G (p.Val103Gly)	LOC130009453, PAN3 +1 more (V103G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2530290	NM_175854.8(PAN3):c.385G>A (p.Gly129Ser)	LOC130009453, PAN3 +1 more (G129S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 26