"Myriad Genetics, Inc."[submitter] AND "TGM1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724341	NM_000359.3(TGM1):c.1899del (p.Lys634fs)	TGM1 (K634fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1724712	NM_000359.3(TGM1):c.1714_1715insTCAGATCCTGCCCCATC (p.Asn572fs)	TGM1 (N572fs)	Insertion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1726777	NM_000359.3(TGM1):c.1670del (p.Val557fs)	TGM1 (V557fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725944	NM_000359.3(TGM1):c.1642G>T (p.Glu548Ter)	TGM1 (E548*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1724691	NM_000359.3(TGM1):c.1625_1626insTC (p.Leu543fs)	TGM1 (L543fs)	Insertion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725065	NM_000359.3(TGM1):c.1581_1591del (p.Val528fs)	TGM1 (V528fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725228	NM_000359.3(TGM1):c.1489delinsAC (p.Glu497fs)	TGM1 (E497fs)	Indel (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1726190	NM_000359.3(TGM1):c.1429_1431delinsCT (p.Val477fs)	TGM1 (V477fs)	Indel (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725646	NM_000359.3(TGM1):c.1329_1330del (p.Met443fs)	TGM1 (M443fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725172	NM_000359.3(TGM1):c.1281_1282del (p.Asn428fs)	TGM1 (N428fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725418	NM_000359.3(TGM1):c.1175del (p.Gly392fs)	TGM1 (G392fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1724361	NM_000359.3(TGM1):c.1129del (p.Cys377fs)	TGM1 (C377fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1334159	NM_000359.3(TGM1):c.1121A>G (p.Tyr374Cys)	TGM1 (Y374C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1726211	NM_000359.3(TGM1):c.1090_1091del (p.Ser364fs)	TGM1 (S364fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1724527	NM_000359.3(TGM1):c.1038C>A (p.Tyr346Ter)	TGM1 (Y346*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 372534	NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)	TGM1 (R307G)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic
Select item 279911	NM_000359.3(TGM1):c.877-2A>G	TGM1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 372533	NM_000359.3(TGM1):c.876+2T>C	TGM1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1725941	NM_000359.3(TGM1):c.771C>A (p.Tyr257Ter)	TGM1 (Y257*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1724696	NM_000359.3(TGM1):c.645del (p.Ile216fs)	TGM1 (I216fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725446	NM_000359.3(TGM1):c.527_528del (p.Gly176fs)	TGM1 (G176fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725963	NM_000359.3(TGM1):c.496G>T (p.Glu166Ter)	TGM1 (E166*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 225488	NM_000359.3(TGM1):c.463C>T (p.Arg155Trp)	TGM1 (R155W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1725640	NM_000359.3(TGM1):c.335_336del (p.Val112fs)	TGM1 (V112fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic

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Items: 24