"Ambry Genetics"[submitter] AND "PUM1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 617918	NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)	PUM1 (R1145W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism +3 more	GPathogenic/Likely pathogenic
Select item 2253655	NM_001020658.2(PUM1):c.3277C>T (p.Arg1093Cys)	PUM1 (R1093C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483934	NM_001020658.2(PUM1):c.3167G>A (p.Arg1056His)	PUM1 (R1056H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3149785	NM_001020658.2(PUM1):c.2975T>C (p.Ile992Thr)	PUM1 (I990T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342728	NM_001020658.2(PUM1):c.2854A>G (p.Ile952Val)	PUM1 (I952V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2517460	NM_001020658.2(PUM1):c.2528A>G (p.Asn843Ser)	PUM1 (N843S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149783	NM_001020658.2(PUM1):c.2500G>T (p.Glu834Ter)	PUM1 (E834*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2267435	NM_001020658.2(PUM1):c.2402C>T (p.Ala801Val)	PUM1 (A801V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335213	NM_001020658.2(PUM1):c.2401G>A (p.Ala801Thr)	PUM1 (A801T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306251	NM_001020658.2(PUM1):c.2333C>A (p.Thr778Lys)	PUM1 (T778K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301741	NM_001020658.2(PUM1):c.2258C>T (p.Pro753Leu)	PUM1 (P753L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347117	NM_001020658.2(PUM1):c.2087T>C (p.Val696Ala)	PUM1 (V696A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214341	NM_001020658.2(PUM1):c.2033G>A (p.Ser678Asn)	PUM1 (S678N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541553	NM_001020658.2(PUM1):c.1958G>A (p.Ser653Asn)	PUM1 (S653N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475871	NM_001020658.2(PUM1):c.1918C>G (p.Leu640Val)	PUM1 (L640V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034237	NM_001020658.2(PUM1):c.1850A>G (p.Asn617Ser)	PUM1 (N617S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3149782	NM_001020658.2(PUM1):c.1534C>G (p.Pro512Ala)	PUM1 (P512A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227027	NM_001020658.2(PUM1):c.1360G>A (p.Ala454Thr)	PUM1 (A454T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466027	NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)	PUM1 (A433T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 47 +1 more	GUncertain significance
Select item 2367523	NM_001020658.2(PUM1):c.1280A>G (p.Asn427Ser)	PUM1 (N427S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491492	NM_001020658.2(PUM1):c.1244C>G (p.Pro415Arg)	PUM1 (P415R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232761	NM_001020658.2(PUM1):c.1237C>T (p.His413Tyr)	PUM1 (H413Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2231114	NM_001020658.2(PUM1):c.1178C>T (p.Ala393Val)	PUM1 (A393V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610902	NM_001020658.2(PUM1):c.1145A>G (p.Asn382Ser)	PUM1 (N382S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313627	NM_001020658.2(PUM1):c.1121C>T (p.Ala374Val)	PUM1 (A374V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149786	NM_001020658.2(PUM1):c.983C>G (p.Thr328Ser)	PUM1 (T328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363668	NM_001020658.2(PUM1):c.962_965dup (p.Ala323fs)	PUM1 (A323fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2245690	NM_001020658.2(PUM1):c.874G>A (p.Val292Ile)	PUM1 (V292I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311721	NM_001020658.2(PUM1):c.839A>G (p.Asn280Ser)	PUM1 (N280S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233933	NM_001020658.2(PUM1):c.739A>C (p.Ser247Arg)	PUM1 (S247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311723	NM_001020658.2(PUM1):c.341A>G (p.Asp114Gly)	PUM1 (D114G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149784	NM_001020658.2(PUM1):c.263A>C (p.Gln88Pro)	PUM1 (Q88P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2535824	NM_001020658.2(PUM1):c.185C>T (p.Ser62Phe)	PUM1 (S62F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311720	NM_001020658.2(PUM1):c.166C>G (p.Leu56Val)	PUM1 (L56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 34