"Ambry Genetics"[submitter] AND "POMGNT2"[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 946818	NM_032806.6(POMGNT2):c.1739C>T (p.Thr580Met)	POMGNT2 (T580M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3216731	NM_032806.6(POMGNT2):c.1712C>T (p.Pro571Leu)	POMGNT2 (P571L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1010449	NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys)	POMGNT2 (R561C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2541158	NM_032806.6(POMGNT2):c.1580A>G (p.Gln527Arg)	POMGNT2 (Q527R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241866	NM_032806.6(POMGNT2):c.1523T>G (p.Ile508Ser)	POMGNT2 (I508S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579783	NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys)	POMGNT2 (S505C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1350906	NM_032806.6(POMGNT2):c.1502G>A (p.Arg501His)	POMGNT2 (R501H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 3216730	NM_032806.6(POMGNT2):c.1451A>C (p.Lys484Thr)	POMGNT2 (K484T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 473274	NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp)	POMGNT2 (R468W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 641229	NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met)	POMGNT2 (V464M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 964568	NM_032806.6(POMGNT2):c.1321G>A (p.Glu441Lys)	POMGNT2 (E441K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3216729	NM_032806.6(POMGNT2):c.1316A>C (p.Asn439Thr)	POMGNT2 (N439T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 937621	NM_032806.6(POMGNT2):c.1312C>T (p.Arg438Trp)	POMGNT2 (R438W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 473272	NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe)	POMGNT2 (L388F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 646038	NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His)	POMGNT2 (R357H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 436367	NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser)	POMGNT2 (N337S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +3 more	GConflicting classifications of pathogenicity
Select item 1052185	NM_032806.6(POMGNT2):c.1009A>G (p.Asn337Asp)	POMGNT2 (N337D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 661494	NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp)	POMGNT2 (R333W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566159	NM_032806.6(POMGNT2):c.994G>A (p.Val332Met)	POMGNT2 (V332M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 540485	NM_032806.6(POMGNT2):c.935A>G (p.Gln312Arg)	POMGNT2 (Q312R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 2226761	NM_032806.6(POMGNT2):c.880C>T (p.Arg294Ter)	POMGNT2 (R294*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 575206	NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys)	POMGNT2 (E286K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 1350587	NM_032806.6(POMGNT2):c.844G>A (p.Val282Ile)	POMGNT2 (V282I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 1350588	NM_032806.6(POMGNT2):c.828C>A (p.Asn276Lys)	POMGNT2 (N276K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 1428577	NM_032806.6(POMGNT2):c.775G>A (p.Val259Ile)	POMGNT2 (V259I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 3216737	NM_032806.6(POMGNT2):c.766A>G (p.Asn256Asp)	POMGNT2 (N256D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1036380	NM_032806.6(POMGNT2):c.731A>G (p.Gln244Arg)	POMGNT2 (Q244R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3216735	NM_032806.6(POMGNT2):c.649C>T (p.Arg217Trp)	POMGNT2 (R217W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 965616	NM_032806.6(POMGNT2):c.550G>A (p.Gly184Ser)	POMGNT2 (G184S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +2 more	GUncertain significance
Select item 3216734	NM_032806.6(POMGNT2):c.546T>G (p.Phe182Leu)	POMGNT2 (F182L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 473280	NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser)	POMGNT2 (N163S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3216733	NM_032806.6(POMGNT2):c.466G>T (p.Ala156Ser)	POMGNT2 (A156S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 850542	NM_032806.6(POMGNT2):c.445G>A (p.Val149Met)	POMGNT2 (V149M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 473278	NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys)	POMGNT2 (R141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 663491	NM_032806.6(POMGNT2):c.397G>A (p.Val133Met)	POMGNT2 (V133M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3216732	NM_032806.6(POMGNT2):c.392A>G (p.Asn131Ser)	POMGNT2 (N131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 961733	NM_032806.6(POMGNT2):c.329G>A (p.Arg110Gln)	POMGNT2 (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1424871	NM_032806.6(POMGNT2):c.328C>T (p.Arg110Trp)	POMGNT2 (R110W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 2243286	NM_032806.6(POMGNT2):c.318C>G (p.Asn106Lys)	POMGNT2 (N106K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1304102	NM_032806.6(POMGNT2):c.243C>G (p.Phe81Leu)	POMGNT2 (F81L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +2 more	GUncertain significance
Select item 2541707	NM_032806.6(POMGNT2):c.158A>G (p.Tyr53Cys)	POMGNT2 (Y53C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1499454	NM_032806.6(POMGNT2):c.122A>G (p.Gln41Arg)	POMGNT2 (Q41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2319877	NM_032806.6(POMGNT2):c.119G>C (p.Arg40Pro)	POMGNT2 (R40P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216529	NM_032806.6(POMGNT2):c.95T>A (p.Leu32Gln)	POMGNT2 (L32Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 393196	NM_032806.6(POMGNT2):c.77G>A (p.Arg26His)	POMGNT2 (R26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 436370	NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln)	POMGNT2 (R24Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +3 more	GUncertain significance
Select item 1046344	NM_032806.6(POMGNT2):c.70C>T (p.Arg24Trp)	POMGNT2 (R24W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1357349	NM_032806.6(POMGNT2):c.50C>T (p.Ala17Val)	POMGNT2 (A17V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance

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: 48