PUM2[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +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	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +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 3149794	NM_015317.5(PUM2):c.3119C>T (p.Ala1040Val)	PUM2 (A1042V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650701	NM_015317.5(PUM2):c.3096C>T (p.Tyr1032=)	PUM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149793	NM_015317.5(PUM2):c.3092A>G (p.Lys1031Arg)	PUM2 (K1031R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514937	NM_015317.5(PUM2):c.3055A>G (p.Met1019Val)	PUM2 (M793V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357181	NM_015317.5(PUM2):c.3026T>C (p.Met1009Thr)	PUM2 (M953T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149792	NM_015317.5(PUM2):c.3025A>G (p.Met1009Val)	PUM2 (M874V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243624	NM_015317.5(PUM2):c.2905C>G (p.Arg969Gly)	PUM2 (R913G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149791	NM_015317.5(PUM2):c.2804A>G (p.Asp935Gly)	PUM2 (D800G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339148	NM_015317.5(PUM2):c.2467A>G (p.Ile823Val)	PUM2 (I688V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530979	NM_015317.5(PUM2):c.2255C>T (p.Thr752Ile)	PUM2 (T696I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337590	NM_015317.5(PUM2):c.2125A>G (p.Arg709Gly)	PUM2 (R574G +4 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3149789	NM_015317.5(PUM2):c.1765T>A (p.Ser589Thr)	PUM2 (S533T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2411334	NM_015317.5(PUM2):c.1702A>G (p.Ser568Gly)	PUM2 (S512G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284955	NM_015317.5(PUM2):c.1606A>G (p.Ser536Gly)	PUM2 (S310G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281742	NM_015317.5(PUM2):c.1493T>A (p.Leu498Gln)	PUM2 (L272Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610593	NM_015317.5(PUM2):c.1393G>A (p.Ala465Thr)	PUM2 (A239T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334377	NM_015317.5(PUM2):c.1217C>T (p.Ala406Val)	PUM2 (A180V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301039	NM_015317.5(PUM2):c.1198G>A (p.Gly400Ser)	PUM2 (G174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476982	NM_015317.5(PUM2):c.1159C>T (p.Arg387Cys)	PUM2 (R161C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149788	NM_015317.5(PUM2):c.1154T>C (p.Val385Ala)	PUM2 (V385A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341720	NM_015317.5(PUM2):c.1099A>G (p.Asn367Asp)	PUM2 (N367D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593443	NM_015317.5(PUM2):c.1094C>T (p.Ala365Val)	PUM2 (A139V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149787	NM_015317.5(PUM2):c.1042G>A (p.Val348Ile)	PUM2 (V122I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610903	NM_015317.5(PUM2):c.830C>A (p.Thr277Asn)	PUM2 (T277N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149796	NM_015317.5(PUM2):c.757G>A (p.Val253Ile)	PUM2 (V197I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365659	NM_015317.5(PUM2):c.751G>A (p.Ala251Thr)	PUM2 (A25T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270334	NM_015317.5(PUM2):c.736A>G (p.Met246Val)	PUM2 (M190V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604332	NM_015317.5(PUM2):c.716A>G (p.Tyr239Cys)	PUM2 (Y183C +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 3149795	NM_015317.5(PUM2):c.524C>T (p.Thr175Ile)	PUM2 (T119I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496223	NM_015317.5(PUM2):c.500C>T (p.Ala167Val)	PUM2 (A111V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3149790	NM_015317.5(PUM2):c.223A>G (p.Ser75Gly)	PUM2 (S75G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2606306	NM_015317.5(PUM2):c.110G>A (p.Gly37Asp)	PUM2 (G37D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 60