"GeneDx"[submitter] AND "TGM5"[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2662491	NM_201631.4(TGM5):c.2009+1G>A	TGM5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1265065	NM_201631.4(TGM5):c.1715-109T>C	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787426	NM_201631.4(TGM5):c.1632T>G (p.Ser544Arg)	TGM5 (S462R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 316042	NM_201631.4(TGM5):c.1510G>A (p.Val504Met)	TGM5 (V504M +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 157567	NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)	TGM5 (K445N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450467	NM_201631.4(TGM5):c.1304del (p.Asp435fs)	TGM5 (D435fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1700720	NM_201631.4(TGM5):c.1190C>G (p.Ser397Trp)	TGM5 (S315W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2242813	NM_201631.4(TGM5):c.1145A>G (p.Lys382Arg)	TGM5 (K300R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 316050	NM_201631.4(TGM5):c.1055C>G (p.Ala352Gly)	TGM5 (A352G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 430084	NM_201631.4(TGM5):c.1036C>T (p.Arg346Trp)	TGM5 (R346W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200686	NM_201631.4(TGM5):c.1016G>A (p.Trp339Ter)	TGM5 (W257* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1175516	NM_201631.4(TGM5):c.1002-164A>G	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287527	NM_201631.4(TGM5):c.1001+51C>A	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420028	NM_201631.4(TGM5):c.1001+2_1001+3del	TGM5	Deletion (splice donor variant)	not provided	GPathogenic
Select item 316052	NM_201631.4(TGM5):c.960C>T (p.Asn320=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 452022	NM_201631.4(TGM5):c.946G>A (p.Glu316Lys)	TGM5 (E316K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373486	NM_201631.4(TGM5):c.919G>A (p.Asp307Asn)	TGM5 (D307N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242785	NM_201631.4(TGM5):c.862+24A>G	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363823	NM_201631.4(TGM5):c.856T>C (p.Cys286Arg)	TGM5 (C204R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886452	NM_201631.4(TGM5):c.850G>A (p.Val284Ile)	TGM5 (V202I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1183545	NM_201631.4(TGM5):c.685-180G>A	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316060	NM_201631.4(TGM5):c.660C>T (p.Tyr220=)	TGM5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 316061	NM_201631.4(TGM5):c.654C>T (p.Pro218=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 1294974	NM_201631.4(TGM5):c.437-234T>C	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227834	NM_201631.4(TGM5):c.436+331C>T	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6039	NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	TGM5 (G113C)	Single nucleotide variant (missense variant +1 more)	TGM5-related disorder +3 more	GPathogenic
Select item 631730	NM_201631.4(TGM5):c.255del (p.Ser86fs)	TGM5 (S86fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 157569	NM_201631.4(TGM5):c.122T>C (p.Leu41Pro)	TGM5 (L41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449109	NM_201631.4(TGM5):c.104G>A (p.Arg35Gln)	TGM5 (R35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 316064	NM_201631.4(TGM5):c.44C>G (p.Ser15Cys)	TGM5 (S15C)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 1272060	NM_201631.4(TGM5):c.11-197A>C	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223030	NM_201631.4(TGM5):c.10+215T>G	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316066	NM_201631.4(TGM5):c.10+11C>T	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 1276897	NC_000015.10:g.43267033T>C	TGM5	Single nucleotide variant	not provided	GBenign
Select item 3360596	NM_201631.4(TGM5):c.1748A>G (p.Gln583Arg)	TGM5 (Q501R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35