"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "POMT2"[gen - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 314510	NM_013382.7(POMT2):c.*2151A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GConflicting classifications of pathogenicity
Select item 282243	NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)	POMT2 (R686Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 194966	NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu)	POMT2 (P653L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GConflicting classifications of pathogenicity
Select item 3025197	NM_013382.7(POMT2):c.1891+220C>T	POMT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 807151	NM_013382.7(POMT2):c.1889C>T (p.Ala630Val)	POMT2 (A630V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GUncertain significance
Select item 194863	NM_013382.7(POMT2):c.1881G>A (p.Ala627=)	POMT2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 546745	NM_013382.7(POMT2):c.1785G>A (p.Pro595=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GUncertain significance
Select item 807152	NM_013382.7(POMT2):c.1754C>T (p.Thr585Ile)	POMT2 (T585I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282504	NM_013382.7(POMT2):c.1743G>A (p.Gly581=)	POMT2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 283109	NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys)	POMT2 (R578C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GUncertain significance
Select item 194648	NM_013382.7(POMT2):c.1701C>G (p.Pro567=)	POMT2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 448116	NM_013382.7(POMT2):c.1691C>T (p.Thr564Met)	POMT2 (T564M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 166904	NM_013382.7(POMT2):c.1683T>C (p.Asn561=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GConflicting classifications of pathogenicity
Select item 285471	NM_013382.7(POMT2):c.1658dup (p.Asn553fs)	POMT2 (N553fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GPathogenic/Likely pathogenic
Select item 194247	NM_013382.7(POMT2):c.1404A>G (p.Lys468=)	POMT2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 592360	NM_013382.7(POMT2):c.1332+6_1332+9del	POMT2	Microsatellite (splice donor variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 872577	NM_013382.7(POMT2):c.1312C>T (p.Gln438Ter)	POMT2 (Q438*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 194086	NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)	POMT2 (R421Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GBenign/Likely benign
Select item 260291	NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)	POMT2 (K417R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 285824	NM_013382.7(POMT2):c.1229A>T (p.Asp410Val)	POMT2 (D410V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GUncertain significance
Select item 314557	NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser)	POMT2 (P396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1701242	NM_013382.7(POMT2):c.1184-4_1184-3delinsTT	POMT2	Indel (intron variant)	not provided	GUncertain significance
Select item 448119	NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)	POMT2 (S269N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3027339	NM_013382.7(POMT2):c.762G>A (p.Gly254=)	POMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694724	NM_013382.7(POMT2):c.733G>A (p.Val245Ile)	POMT2 (V245I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501825	NM_013382.7(POMT2):c.700G>A (p.Val234Ile)	LOC130056175, POMT2 (V234I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GConflicting classifications of pathogenicity
Select item 288656	NM_013382.7(POMT2):c.662T>A (p.Phe221Tyr)	LOC130056175, POMT2 (F221Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807153	NM_013382.7(POMT2):c.661T>A (p.Phe221Ile)	LOC130056175, POMT2 (F221I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GUncertain significance
Select item 582532	NM_013382.7(POMT2):c.640A>C (p.Asn214His)	POMT2 (N214H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GUncertain significance
Select item 285067	NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	POMT2 (R99C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 95541	NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)	POMT2	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 567156	NM_013382.7(POMT2):c.133C>T (p.Pro45Ser)	POMT2 (P45S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GUncertain significance
Select item 704269	NM_013382.7(POMT2):c.36C>A (p.Ser12=)	POMT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign

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Items: 33