C4310704[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209779	NM_017739.4(POMGNT1):c.*457C>T	POMGNT1, TSPAN1 (A718V)	Single nucleotide variant (3 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 289590	NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	POMGNT1, TSPAN1 (F643V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GUncertain significance
Select item 257665	NM_017739.4(POMGNT1):c.1895+30A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 167524	NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)	TSPAN1, POMGNT1 (M480V +1 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +6 more	GBenign
Select item 658684	NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)	POMGNT1, TSPAN1 (T431I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 1209777	NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)	POMGNT1, TSPAN1 (P418S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 3997	NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	POMGNT1, TSPAN1 (D556N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +7 more	GConflicting classifications of pathogenicity
Select item 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	not provided +10 more	GPathogenic
Select item 671038	NM_017739.4(POMGNT1):c.1212-66T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 671037	NM_017739.4(POMGNT1):c.1212-81C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1210461	NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)	POMGNT1, TSPAN1 (K230Q +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 260870	NM_017739.4(POMGNT1):c.1111-23C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 260869	NM_017739.4(POMGNT1):c.1027-44A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GBenign
Select item 671035	NM_017739.4(POMGNT1):c.951-52A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209699	NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	POMGNT1, TSPAN1 (N158S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GConflicting classifications of pathogenicity
Select item 1209778	NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)	POMGNT1, TSPAN1 (R124C +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209698	NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	POMGNT1, TSPAN1 (R122C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 1209697	NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)	POMGNT1, TSPAN1 (K219R +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 95761	NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +7 more	GBenign
Select item 436365	NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)	POMGNT1, TSPAN1 (R147H +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +5 more	GUncertain significance
Select item 260873	NM_017739.4(POMGNT1):c.235+33T>G	POMGNT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1209829	NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)	POMGNT1 (Q54K +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance

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Items: 22