13658[HGNC] - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 3202602	NM_021229.4(NTN4):c.1872A>C (p.Lys624Asn)	NTN4 (K624N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202601	NM_021229.4(NTN4):c.1738A>G (p.Ile580Val)	NTN4 (I580V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202600	NM_021229.4(NTN4):c.1624G>A (p.Val542Ile)	NTN4 (V519I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329275	NM_021229.4(NTN4):c.1615G>A (p.Gly539Ser)	NTN4 (G502S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263150	NM_021229.4(NTN4):c.1535C>T (p.Thr512Ile)	NTN4 (T475I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3301289	NM_021229.4(NTN4):c.1533G>C (p.Gln511His)	NTN4 (Q474H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492402	NM_021229.4(NTN4):c.1528G>A (p.Glu510Lys)	NTN4 (E510K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227943	NM_021229.4(NTN4):c.1523G>A (p.Cys508Tyr)	NTN4 (C471Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531324	NM_021229.4(NTN4):c.1481C>T (p.Ala494Val)	NTN4 (A494V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297200	NM_021229.4(NTN4):c.1480G>A (p.Ala494Thr)	NTN4 (A494T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525650	NM_021229.4(NTN4):c.1441G>T (p.Val481Leu)	NTN4 (V481L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333639	NM_021229.4(NTN4):c.1340G>T (p.Arg447Leu)	NTN4 (R447L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456199	NM_021229.4(NTN4):c.1289G>A (p.Arg430His)	NTN4 (R430H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643221	NM_021229.4(NTN4):c.1182G>A (p.Pro394=)	NTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694672	NM_021229.4(NTN4):c.1163C>G (p.Ala388Gly)	NTN4 (A351G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3202598	NM_021229.4(NTN4):c.1052C>T (p.Ser351Leu)	NTN4 (S314L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248222	NM_021229.4(NTN4):c.1048G>A (p.Ala350Thr)	NTN4 (A350T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734013	NM_021229.4(NTN4):c.1019C>A (p.Thr340Asn)	NTN4 (T303N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3202605	NM_021229.4(NTN4):c.982G>A (p.Glu328Lys)	NTN4 (E291K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301287	NM_021229.4(NTN4):c.973G>A (p.Ala325Thr)	NTN4 (A288T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221011	NM_021229.4(NTN4):c.926C>T (p.Pro309Leu)	NTN4 (P272L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776735	NM_021229.4(NTN4):c.894C>T (p.Asn298=)	NTN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545594	NM_021229.4(NTN4):c.858C>A (p.Phe286Leu)	NTN4 (F249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301288	NM_021229.4(NTN4):c.835C>T (p.Pro279Ser)	NTN4 (P279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536368	NM_021229.4(NTN4):c.827G>A (p.Gly276Asp)	NTN4 (G276D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161749	NM_021229.4(NTN4):c.823C>T (p.His275Tyr)	NTN4 (H275Y +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2386806	NM_021229.4(NTN4):c.802G>A (p.Ala268Thr)	NTN4 (A268T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202603	NM_021229.4(NTN4):c.692G>A (p.Arg231Gln)	NTN4 (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468435	NM_021229.4(NTN4):c.496G>A (p.Ala166Thr)	NTN4 (A129T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 776736	NM_021229.4(NTN4):c.417G>A (p.Pro139=)	NTN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2365950	NM_021229.4(NTN4):c.298C>T (p.Arg100Trp)	NTN4 (R63W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244897	NM_021229.4(NTN4):c.155C>T (p.Thr52Ile)	NTN4 (T15I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409118	NM_021229.4(NTN4):c.100T>C (p.Cys34Arg)	NTN4 (C34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776902	NM_021229.4(NTN4):c.74G>T (p.Gly25Val)	NTN4 (G25V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2342139	NM_021229.4(NTN4):c.49G>A (p.Ala17Thr)	NTN4 (A17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643222	NM_021229.4(NTN4):c.20T>G (p.Leu7Arg)	NTN4 (L7R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2529702	NM_021229.4(NTN4):c.8G>A (p.Ser3Asn)	NTN4 (S3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	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

Search results

Items: 42