POTEM[gene] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146963	GRCh38/hg38 14q11.2(chr14:18600315-19967729)x1	LINC01296, LINC01297 +17 more	Copy number loss	See cases	GBenign
Select item 146947	GRCh38/hg38 14q11.2(chr14:18600315-19946044)x3	LINC01296, LINC01297 +17 more	Copy number gain	See cases	GBenign
Select item 146936	GRCh38/hg38 14q11.2(chr14:18658128-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 146998	GRCh38/hg38 14q11.2(chr14:18698325-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 147182	GRCh38/hg38 14q11.2(chr14:18907993-19415424)x1	LINC01296, LINC01297 +6 more	Copy number loss	See cases	GBenign
Select item 147131	GRCh38/hg38 14q11.2(chr14:18907993-19433294)x3	LINC01296, LINC01297 +7 more	Copy number gain	See cases	GBenign
Select item 147071	GRCh38/hg38 14q11.2(chr14:18907993-19298380)x3	LINC01296, LINC01297-DUXAP10-NBEAP6 +3 more	Copy number gain	See cases	GBenign
Select item 146983	GRCh38/hg38 14q11.2(chr14:18907993-19259035)x1	LINC01296, LNCRNA-ATB +2 more	Copy number loss	See cases	GBenign
Select item 146977	GRCh38/hg38 14q11.2(chr14:18907993-19386058)x1	LINC01296, LINC01297 +5 more	Copy number loss	See cases	GBenign
Select item 58303	GRCh38/hg38 14q11.2(chr14:18907993-19498584)x3	LINC01296, LINC01297 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3216874	NM_001145442.1(POTEM):c.28G>A (p.Ala10Thr)	POTEM (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348384	NM_001145442.1(POTEM):c.32C>T (p.Ala11Val)	POTEM (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216878	NM_001145442.1(POTEM):c.49C>A (p.Pro17Thr)	POTEM (P17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610210	NM_001145442.1(POTEM):c.112A>C (p.Ser38Arg)	POTEM (S38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309002	NM_001145442.1(POTEM):c.126C>G (p.Asn42Lys)	POTEM (N42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644031	NM_001145442.1(POTEM):c.147C>T (p.His49=)	POTEG, POTEM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398149	NM_001145442.1(POTEM):c.150T>G (p.Asp50Glu)	POTEM (D50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309007	NM_001145442.1(POTEM):c.152A>T (p.Asp51Val)	POTEM (D51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226154	NM_001145442.1(POTEM):c.153T>G (p.Asp51Glu)	POTEM (D51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309006	NM_001145442.1(POTEM):c.154T>C (p.Ser52Pro)	POTEM (S52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216871	NM_001145442.1(POTEM):c.160A>G (p.Met54Val)	POTEM (M54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544415	NM_001145442.1(POTEM):c.182T>C (p.Met61Thr)	POTEM (M61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522415	NM_001145442.1(POTEM):c.187A>G (p.Lys63Glu)	POTEM (K63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252922	NM_001145442.1(POTEM):c.196C>T (p.Arg66Cys)	POTEM (R66C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216872	NM_001145442.1(POTEM):c.236A>G (p.Asn79Ser)	POTEM (N79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351798	NM_001145442.1(POTEM):c.251G>A (p.Gly84Glu)	POTEM (G84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302465	NM_001145442.1(POTEM):c.255C>A (p.Asp85Glu)	POTEM (D85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510165	NM_001145442.1(POTEM):c.283A>G (p.Arg95Gly)	POTEM (R95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216875	NM_001145442.1(POTEM):c.332G>A (p.Gly111Glu)	POTEM (G111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309004	NM_001145442.1(POTEM):c.344G>A (p.Ser115Asn)	POTEM (S115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461596	NM_001145442.1(POTEM):c.355C>A (p.Pro119Thr)	POTEM (P119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458207	NM_001145442.1(POTEM):c.406C>T (p.Arg136Cys)	POTEM (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345812	NM_001145442.1(POTEM):c.443G>C (p.Trp148Ser)	POTEM (W148S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216876	NM_001145442.1(POTEM):c.444G>T (p.Trp148Cys)	POTEM (W148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216877	NM_001145442.1(POTEM):c.469C>T (p.Leu157Phe)	POTEM (L157F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234320	NM_001145442.1(POTEM):c.474C>T (p.Ile158=)	POTEM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365476	NM_001145442.1(POTEM):c.475G>A (p.Val159Ile)	POTEM (V159I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388690	NM_001145442.1(POTEM):c.496A>C (p.Met166Leu)	POTEM (M166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618573	NM_001145442.1(POTEM):c.812A>G (p.His271Arg)	POTEM (H271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464780	NM_001145442.1(POTEM):c.815G>C (p.Gly272Ala)	POTEM (G272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216879	NM_001145442.1(POTEM):c.817C>T (p.Leu273Phe)	POTEM (L273F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216880	NM_001145442.1(POTEM):c.869T>A (p.Phe290Tyr)	POTEM (F290Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367059	NM_001145442.1(POTEM):c.920C>G (p.Thr307Ser)	LOC100508046, POTEM (T307S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3309001	NM_001145442.1(POTEM):c.959T>C (p.Ile320Thr)	LOC100508046, POTEM (I320T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349482	NM_001145442.1(POTEM):c.984C>G (p.Asn328Lys)	LOC100508046, POTEM (N328K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387495	NM_001145442.1(POTEM):c.1021G>A (p.Ala341Thr)	LOC100508046, POTEM (A341T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2383962	NM_001145442.1(POTEM):c.1054G>A (p.Val352Ile)	LOC100508046, POTEM (V352I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2539433	NM_001145442.1(POTEM):c.1184A>G (p.Asn395Ser)	POTEM (N395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309000	NM_001145442.1(POTEM):c.1267G>A (p.Gly423Arg)	POTEM (G423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356098	NM_001145442.1(POTEM):c.1301C>G (p.Pro434Arg)	POTEM (P434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216866	NM_001145442.1(POTEM):c.1327G>A (p.Asp443Asn)	POTEM (D443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309005	NM_001145442.1(POTEM):c.1349G>A (p.Arg450Lys)	POTEM (R450K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216868	NM_001145442.1(POTEM):c.1370G>C (p.Ser457Thr)	POTEM (S457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216867	NM_001145442.1(POTEM):c.1370G>A (p.Ser457Asn)	POTEM (S457N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216870	NM_001145442.1(POTEM):c.1373A>G (p.Gln458Arg)	POTEM (Q458R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 157299	Single allele	LOC101929572, OR11H12 +15 more	Duplication	Normal pregnancy	Gnot provided
Select item 157298	Single allele	LOC101929572, OR11H12 +9 more	Duplication	Large for gestational age	Gnot provided

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: 61