C3151519[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56593	NM_017739.4(POMGNT1):c.1895+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy-dystroglycanopathy +8 more	GPathogenic/Likely pathogenic
Select item 56592	NM_017739.4(POMGNT1):c.1895+1G>A	TSPAN1, POMGNT1	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GPathogenic/Likely pathogenic
Select item 1725374	NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)	POMGNT1, TSPAN1 (K376fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +10 more	GConflicting classifications of pathogenicity
Select item 1724880	NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)	POMGNT1, TSPAN1 (P339fs +2 more)	Indel (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 872288	NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	POMGNT1, TSPAN1 (R299H +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +5 more	GPathogenic/Likely pathogenic
Select item 1725260	NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)	POMGNT1, TSPAN1 (E292fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725088	NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)	POMGNT1, TSPAN1 (K230* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 997802	NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	POMGNT1, TSPAN1 (R224H +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +6 more	GConflicting classifications of pathogenicity
Select item 1725128	NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)	POMGNT1, TSPAN1 (I194fs +2 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725652	NM_017739.4(POMGNT1):c.732del (p.Pro245fs)	POMGNT1, TSPAN1 (P102fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724900	NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)	POMGNT1, TSPAN1 (W212* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725447	NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)	TSPAN1, POMGNT1 (K205fs +2 more)	Indel (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724476	NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)	TSPAN1, POMGNT1 (R172fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1726418	NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)	POMGNT1, TSPAN1 (S10* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 558512	NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	POMGNT1, TSPAN1 (R129W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1726608	NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)	POMGNT1 (Y111* +1 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725918	NM_017739.4(POMGNT1):c.307del (p.Val103fs)	POMGNT1 (V103fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725618	NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)	POMGNT1 (Q54* +1 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724200	NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)	POMGNT1 (E48fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724968	NM_017739.4(POMGNT1):c.137del (p.Phe46fs)	POMGNT1 (F24fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725210	NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)	POMGNT1 (R36fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1726555	NM_017739.4(POMGNT1):c.94del (p.Gln32fs)	POMGNT1 (Q32fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic

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Items: 23