PUM2[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	HS1BP3, APOB +131 more	Copy number loss	See cases	GPathogenic
Select item 2672287	NM_015317.5(PUM2):c.3152C>T (p.Pro1051Leu)	PUM2 (P1051L +6 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2650701	NM_015317.5(PUM2):c.3096C>T (p.Tyr1032=)	PUM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514937	NM_015317.5(PUM2):c.3055A>G (p.Met1019Val)	PUM2 (M793V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357181	NM_015317.5(PUM2):c.3026T>C (p.Met1009Thr)	PUM2 (M953T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243624	NM_015317.5(PUM2):c.2905C>G (p.Arg969Gly)	PUM2 (R913G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339148	NM_015317.5(PUM2):c.2467A>G (p.Ile823Val)	PUM2 (I688V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530979	NM_015317.5(PUM2):c.2255C>T (p.Thr752Ile)	PUM2 (T696I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337590	NM_015317.5(PUM2):c.2125A>G (p.Arg709Gly)	PUM2 (R574G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211252	NM_015317.5(PUM2):c.1921C>T (p.Leu641Phe)	PUM2 (L585F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602754	NM_015317.5(PUM2):c.1758G>T (p.Glu586Asp)	PUM2 (E530D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411334	NM_015317.5(PUM2):c.1702A>G (p.Ser568Gly)	PUM2 (S512G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284955	NM_015317.5(PUM2):c.1606A>G (p.Ser536Gly)	PUM2 (S310G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281742	NM_015317.5(PUM2):c.1493T>A (p.Leu498Gln)	PUM2 (L272Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610593	NM_015317.5(PUM2):c.1393G>A (p.Ala465Thr)	PUM2 (A239T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334377	NM_015317.5(PUM2):c.1217C>T (p.Ala406Val)	PUM2 (A180V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301039	NM_015317.5(PUM2):c.1198G>A (p.Gly400Ser)	PUM2 (G174S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476982	NM_015317.5(PUM2):c.1159C>T (p.Arg387Cys)	PUM2 (R161C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341720	NM_015317.5(PUM2):c.1099A>G (p.Asn367Asp)	PUM2 (N367D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593443	NM_015317.5(PUM2):c.1094C>T (p.Ala365Val)	PUM2 (A139V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610903	NM_015317.5(PUM2):c.830C>A (p.Thr277Asn)	PUM2 (T277N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365659	NM_015317.5(PUM2):c.751G>A (p.Ala251Thr)	PUM2 (A25T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270334	NM_015317.5(PUM2):c.736A>G (p.Met246Val)	PUM2 (M190V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604332	NM_015317.5(PUM2):c.716A>G (p.Tyr239Cys)	PUM2 (Y183C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549001	NM_015317.5(PUM2):c.596G>A (p.Gly199Glu)	PUM2 (G199E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457435	NM_015317.5(PUM2):c.578A>G (p.Asn193Ser)	PUM2 (N193S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2496223	NM_015317.5(PUM2):c.500C>T (p.Ala167Val)	PUM2 (A111V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429951	NM_015317.5(PUM2):c.349-2A>G	PUM2	Single nucleotide variant (splice acceptor variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2607319	NM_015317.5(PUM2):c.229G>A (p.Val77Ile)	PUM2 (V77I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462139	NM_015317.5(PUM2):c.215A>G (p.His72Arg)	PUM2 (H16R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507489	NM_015317.5(PUM2):c.169A>G (p.Met57Val)	PUM2 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606306	NM_015317.5(PUM2):c.110G>A (p.Gly37Asp)	PUM2 (G37D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 687512	GRCh37/hg19 2p24.1(chr2:20167711-20601004)x3	LAPTM4A, MATN3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 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: 49