NAP1L1[gene] - ClinVar

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Items: 28

	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 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic
Select item 2615039	NM_004537.7(NAP1L1):c.1126G>C (p.Asp376His)	NAP1L1 (D376H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310495	NM_004537.7(NAP1L1):c.1105G>A (p.Gly369Arg)	NAP1L1 (G306R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3174798	NM_004537.7(NAP1L1):c.1057G>T (p.Asp353Tyr)	NAP1L1 (D353Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552273	NM_004537.7(NAP1L1):c.962C>T (p.Ala321Val)	NAP1L1 (A258V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466047	NM_004537.7(NAP1L1):c.517A>G (p.Thr173Ala)	NAP1L1 (T173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174837	NM_004537.7(NAP1L1):c.473A>T (p.Asp158Val)	NAP1L1 (D95V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174832	NM_004537.7(NAP1L1):c.472G>A (p.Asp158Asn)	NAP1L1 (D158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523702	NM_004537.7(NAP1L1):c.453G>T (p.Lys151Asn)	NAP1L1 (K151N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174824	NM_004537.7(NAP1L1):c.446A>G (p.Lys149Arg)	NAP1L1 (K86R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174813	NM_004537.7(NAP1L1):c.217G>A (p.Val73Ile)	NAP1L1 (V10I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301034	NM_004537.7(NAP1L1):c.134A>G (p.Asn45Ser)	NAP1L1 (N45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619440	NM_004537.7(NAP1L1):c.129G>A (p.Met43Ile)	NAP1L1 (M43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233719	NM_004537.7(NAP1L1):c.97C>T (p.Leu33Phe)	NAP1L1 (L33F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 762504	NM_004537.7(NAP1L1):c.72A>G (p.Glu24=)	NAP1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2281785	NM_004537.7(NAP1L1):c.40C>G (p.Gln14Glu)	NAP1L1 (Q14E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223624	NM_004537.7(NAP1L1):c.25C>G (p.Gln9Glu)	NAP1L1 (Q9E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395581	GRCh37/hg19 12q21.2(chr12:76420290-76478696)x3	NAP1L1, PHLDA1	Copy number gain	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 28