5557[Gene ID] - ClinVar

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Items: 34

	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 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 3309913	NM_000946.3(PRIM1):c.1248A>C (p.Leu416Phe)	PRIM1 (L416F)	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 3309915	NM_000946.3(PRIM1):c.1190A>G (p.His397Arg)	PRIM1 (H397R)	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 3250902	NM_000946.3(PRIM1):c.983-728C>T	PRIM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
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)	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

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Items: 34