TPCN1[gene] - ClinVar

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Items: 56

	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 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 3181483	NM_017901.6(TPCN1):c.-50C>T	TPCN1 (T56I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397195	NM_017901.6(TPCN1):c.-27A>G	TPCN1 (I64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312864	NM_017901.6(TPCN1):c.-18G>A	TPCN1 (A67T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519879	NM_017901.6(TPCN1):c.29C>G (p.Pro10Arg)	TPCN1 (P10R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181488	NM_017901.6(TPCN1):c.118G>A (p.Gly40Ser)	TPCN1 (G112S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181489	NM_017901.6(TPCN1):c.152G>A (p.Ser51Asn)	TPCN1 (S51N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750142	NM_017901.6(TPCN1):c.237+7A>G	TPCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2247514	NM_017901.6(TPCN1):c.284A>G (p.Lys95Arg)	TPCN1 (K27R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463621	NM_017901.6(TPCN1):c.332T>A (p.Met111Lys)	TPCN1 (M111K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291920	NM_017901.6(TPCN1):c.332T>C (p.Met111Thr)	TPCN1 (M183T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181490	NM_017901.6(TPCN1):c.333G>A (p.Met111Ile)	TPCN1 (M111I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343171	NM_017901.6(TPCN1):c.344C>T (p.Thr115Met)	TPCN1 (T187M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313676	NM_017901.6(TPCN1):c.352C>G (p.Leu118Val)	TPCN1 (L118V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273297	NM_017901.6(TPCN1):c.394G>A (p.Ala132Thr)	TPCN1 (A204T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214029	NM_017901.6(TPCN1):c.416T>A (p.Val139Asp)	TPCN1 (V71D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773685	NM_017901.6(TPCN1):c.417C>T (p.Val139=)	TPCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2320451	NM_017901.6(TPCN1):c.539T>A (p.Leu180Gln)	TPCN1 (L112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181491	NM_017901.6(TPCN1):c.544G>T (p.Val182Leu)	TPCN1 (V114L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478306	NM_017901.6(TPCN1):c.652G>A (p.Val218Ile)	TPCN1 (V150I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616841	NM_017901.6(TPCN1):c.656G>A (p.Arg219Gln)	TPCN1 (R291Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334684	NM_017901.6(TPCN1):c.811G>A (p.Val271Ile)	TPCN1 (V203I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405118	NM_017901.6(TPCN1):c.995A>G (p.Lys332Arg)	TPCN1 (K332R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542123	NM_017901.6(TPCN1):c.1174C>T (p.Pro392Ser)	TPCN1 (P392S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408508	NM_017901.6(TPCN1):c.1175C>T (p.Pro392Leu)	TPCN1 (P324L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181482	NM_017901.6(TPCN1):c.1277C>T (p.Thr426Met)	TPCN1 (T426M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778664	NM_017901.6(TPCN1):c.1278G>A (p.Thr426=)	TPCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604758	NM_017901.6(TPCN1):c.1420C>A (p.His474Asn)	TPCN1 (H406N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541542	NM_017901.6(TPCN1):c.1463T>G (p.Val488Gly)	TPCN1 (V420G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233173	NM_017901.6(TPCN1):c.1486G>A (p.Gly496Ser)	TPCN1 (G496S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181484	NM_017901.6(TPCN1):c.1514C>A (p.Ser505Tyr)	TPCN1 (S437Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219957	NM_017901.6(TPCN1):c.1585A>G (p.Met529Val)	TPCN1 (M601V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181485	NM_017901.6(TPCN1):c.1606G>A (p.Val536Met)	TPCN1 (V468M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181486	NM_017901.6(TPCN1):c.1621C>G (p.Leu541Val)	TPCN1 (L473V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359963	NM_017901.6(TPCN1):c.1655G>A (p.Arg552His)	TPCN1 (R484H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386094	NM_017901.6(TPCN1):c.1660C>T (p.Arg554Cys)	TPCN1 (R486C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181487	NM_017901.6(TPCN1):c.1680G>C (p.Met560Ile)	TPCN1 (M560I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215083	NM_017901.6(TPCN1):c.1855G>A (p.Val619Met)	TPCN1 (V691M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769392	NM_017901.6(TPCN1):c.1869C>T (p.Gly623=)	TPCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 779354	NM_017901.6(TPCN1):c.2114-3C>T	TPCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2209188	NM_017901.6(TPCN1):c.2154A>T (p.Glu718Asp)	TPCN1 (E790D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371553	NM_017901.6(TPCN1):c.2165C>T (p.Ala722Val)	TPCN1 (A794V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782783	NM_017901.6(TPCN1):c.2191C>T (p.Arg731Trp)	TPCN1 (R663W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2520412	NM_017901.6(TPCN1):c.2375G>A (p.Arg792Gln)	TPCN1 (R792Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394765	NM_017901.6(TPCN1):c.2404G>T (p.Ala802Ser)	TPCN1 (A874S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324362	NM_017901.6(TPCN1):c.2404G>A (p.Ala802Thr)	TPCN1 (A874T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532712	NM_017901.6(TPCN1):c.2424C>A (p.Ser808Arg)	TPCN1 (S880R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454693	NM_017901.6(TPCN1):c.2429A>T (p.Gln810Leu)	TPCN1 (Q882L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1340934	GRCh37/hg19 12q24.13(chr12:113622666-113848323)x3	DDX54, IQCD +5 more	Copy number gain	not provided	GLikely benign
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 689109	GRCh37/hg19 12q24.13(chr12:113695889-113904780)x1	LHX5, PLBD2 +4 more	Copy number loss	not provided	GUncertain significance
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 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: 56