"Revvity Omics, Revvity"[submitter] AND "LOC112577517"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2057303	NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)	LOC112577517, TOR1AIP1 (G3S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437180	NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)	LOC112577517, TOR1AIP1 (D4G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437178	NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)	LOC112577517, TOR1AIP1 (R22K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 542852	NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)	LOC112577517, TOR1AIP1 (Q52L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GConflicting classifications of pathogenicity
Select item 951528	NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn)	LOC112577517, TOR1AIP1 (S102N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437179	NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)	TOR1AIP1, LOC112577517 (R109K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2690252	NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)	LOC112577517, TOR1AIP1 (Q117H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 847674	NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met)	LOC112577517, TOR1AIP1 (T124M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 841950	NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly)	LOC112577517, TOR1AIP1 (R125G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1064307	NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu)	LOC112577517, TOR1AIP1 (S135L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 971234	NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln)	LOC112577517, TOR1AIP1 (R152Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance