C4284790[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93522	NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)	FKTN (R203Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GBenign/Likely benign
Select item 95453	NM_001077365.2(POMT1):c.123-5dup	POMT1	Duplication (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +6 more	GBenign/Likely benign
Select item 260149	NM_001077365.2(POMT1):c.428-21T>C	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GBenign
Select item 95466	NM_001077365.2(POMT1):c.699+52C>T	POMT1 (Q197* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GBenign/Likely benign
Select item 227021	NM_001077365.2(POMT1):c.699+53A>G	POMT1 (Q134R +3 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GBenign
Select item 260151	NM_001077365.2(POMT1):c.700-48A>G	POMT1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 260152	NM_001077365.2(POMT1):c.856-49T>G	POMT1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 167519	NM_001077365.2(POMT1):c.876T>C (p.Thr292=)	POMT1 (S287P)	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign
Select item 95471	NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)	POMT1 (V327I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 260139	NM_001077365.2(POMT1):c.986+49G>A	POMT1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 167520	NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GBenign
Select item 95451	NM_001077365.2(POMT1):c.1082+16G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign
Select item 260142	NM_001077365.2(POMT1):c.1698+48C>G	POMT1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 95460	NM_001077365.2(POMT1):c.2003+13C>T	POMT1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 260136	NM_001077365.2(POMT1):c.*41T>C	POMT1	Single nucleotide variant (3 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GBenign
Select item 664273	NM_024301.5(FKRP):c.948del (p.Cys317fs)	FKRP (C317fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic