ClinVar for Gene (Select 4673) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298419	NM_004537.7(NAP1L1):c.79A>G (p.Thr27Ala)	NAP1L1 (T27A)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
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 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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	GALNT8, H2AJ +1007 more	Copy number gain	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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29