PRIM1[gene] - ClinVar

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

Search results

Items: 30

	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 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2550202	NM_000946.3(PRIM1):c.1255G>T (p.Asp419Tyr)	PRIM1 (D419Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385804	NM_000946.3(PRIM1):c.1217G>A (p.Arg406Gln)	PRIM1 (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672507	NM_000946.3(PRIM1):c.1126G>A (p.Val376Ile)	PRIM1 (V376I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3218671	NM_000946.3(PRIM1):c.1064G>A (p.Arg355His)	PRIM1 (R355H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529550	NM_000946.3(PRIM1):c.1063C>T (p.Arg355Cys)	PRIM1 (R355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981922	NM_000946.3(PRIM1):c.901T>C (p.Cys301Arg)	PRIM1 (C301R)	Single nucleotide variant (missense variant)	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome +1 more	GPathogenic
Select item 929771	NM_000946.3(PRIM1):c.873G>T (p.Trp291Cys)	PRIM1 (W291C)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 3218674	NM_000946.3(PRIM1):c.835T>G (p.Tyr279Asp)	PRIM1 (Y279D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280881	NM_000946.3(PRIM1):c.802C>T (p.Arg268Cys)	PRIM1 (R268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981920	NM_000946.3(PRIM1):c.638+36C>G	PRIM1	Single nucleotide variant (intron variant)	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome +1 more	GPathogenic
Select item 2619471	NM_000946.3(PRIM1):c.629C>T (p.Pro210Leu)	PRIM1 (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514432	NM_000946.3(PRIM1):c.592G>A (p.Val198Ile)	PRIM1 (V198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681500	NM_000946.3(PRIM1):c.511G>A (p.Asp171Asn)	PRIM1 (D171N)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2386896	NM_000946.3(PRIM1):c.493G>A (p.Val165Ile)	PRIM1 (V165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380387	NM_000946.3(PRIM1):c.455T>G (p.Phe152Cys)	PRIM1 (F152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218672	NM_000946.3(PRIM1):c.428A>G (p.Asp143Gly)	PRIM1 (D143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460435	NM_000946.3(PRIM1):c.349G>A (p.Asp117Asn)	PRIM1 (D117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701203	NM_000946.3(PRIM1):c.103+2T>G	LOC124629375, PRIM1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 981921	NM_000946.3(PRIM1):c.103+1G>T	LOC124629375, PRIM1	Single nucleotide variant (splice donor variant)	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome +1 more	GPathogenic
Select item 2618996	NM_000946.3(PRIM1):c.98G>A (p.Gly33Asp)	LOC124629375, PRIM1 (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462605	NM_000946.3(PRIM1):c.80A>G (p.Tyr27Cys)	LOC124629375, PRIM1 (Y27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218673	NM_000946.3(PRIM1):c.71C>G (p.Ser24Cys)	LOC124629375, PRIM1 (S24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242002	NM_000946.3(PRIM1):c.14A>C (p.Asp5Ala)	PRIM1 (D5A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +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: 30