ClinVar for MedGen (Select 342862) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065974	NM_201631.4(TGM5):c.2161T>C (p.Ter721Gln)	TGM5	Single nucleotide variant (stop lost)	Acral peeling skin syndrome	GLikely pathogenic
Select item 2692374	NM_201631.4(TGM5):c.774C>G (p.Ser258Arg)	TGM5 (S176R +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2664323	NM_201631.4(TGM5):c.115T>A (p.Phe39Ile)	TGM5 (F39I)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GLikely pathogenic
Select item 2437072	NM_201631.4(TGM5):c.1518A>T (p.Gln506His)	TGM5 (Q424H +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2355114	NM_201631.4(TGM5):c.380C>T (p.Ser127Phe)	TGM5 (S127F)	Single nucleotide variant (missense variant +1 more)	Acral peeling skin syndrome +1 more	GUncertain significance
Select item 1685463	NM_201631.4(TGM5):c.10+2T>C	TGM5	Single nucleotide variant (splice donor variant)	Acral peeling skin syndrome	GLikely pathogenic
Select item 1325191	NM_201631.4(TGM5):c.829C>T (p.Gln277Ter)	TGM5 (Q195* +1 more)	Single nucleotide variant (nonsense)	Acral peeling skin syndrome	GLikely pathogenic
Select item 1325190	NM_201631.4(TGM5):c.393C>A (p.Tyr131Ter)	TGM5 (Y131*)	Single nucleotide variant (nonsense +1 more)	Acral peeling skin syndrome	GLikely pathogenic
Select item 887704	NM_201631.4(TGM5):c.509A>G (p.Gln170Arg)	TGM5 (Q170R +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GLikely benign
Select item 887703	NM_201631.4(TGM5):c.600G>C (p.Lys200Asn)	TGM5 (K200N +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 887702	NM_201631.4(TGM5):c.607C>T (p.His203Tyr)	TGM5 (H203Y +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 887645	NM_201631.4(TGM5):c.1714+14C>T	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 887644	NM_201631.4(TGM5):c.1716A>G (p.Ala572=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 887643	NM_201631.4(TGM5):c.1750T>C (p.Tyr584His)	TGM5 (Y584H +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 887642	NM_201631.4(TGM5):c.1868C>T (p.Thr623Met)	TGM5 (T541M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 887463	NM_201631.4(TGM5):c.1891G>C (p.Val631Leu)	TGM5 (V549L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887462	NM_201631.4(TGM5):c.1941G>A (p.Ser647=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 887461	NM_201631.4(TGM5):c.1970T>C (p.Val657Ala)	TGM5 (V575A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 887460	NM_201631.4(TGM5):c.*510A>G	TGM5	Single nucleotide variant (3 prime UTR variant)	Acral peeling skin syndrome	GUncertain significance
Select item 886455	NM_201631.4(TGM5):c.810C>T (p.Cys270=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 886454	NM_201631.4(TGM5):c.820C>A (p.Arg274Ser)	TGM5 (R192S +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 886453	NM_201631.4(TGM5):c.834C>T (p.Cys278=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	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 +2 more	GConflicting classifications of pathogenicity
Select item 886451	NM_201631.4(TGM5):c.863-12C>T	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 885433	NM_201631.4(TGM5):c.1080C>T (p.Asp360=)	TGM5	Single nucleotide variant (synonymous variant)	TGM5-related condition +1 more	GConflicting classifications of pathogenicity
Select item 885432	NM_201631.4(TGM5):c.1106-9C>G	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 884559	NM_201631.4(TGM5):c.258C>G (p.Ser86Arg)	TGM5 (S86R)	Single nucleotide variant (missense variant +1 more)	Acral peeling skin syndrome	GUncertain significance
Select item 884498	NM_201631.4(TGM5):c.1239G>A (p.Glu413=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 884497	NM_201631.4(TGM5):c.1552A>G (p.Asn518Asp)	TGM5 (N436D +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 778097	NM_201631.4(TGM5):c.125C>A (p.Thr42Asn)	TGM5 (T42N)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 631730	NM_201631.4(TGM5):c.255del (p.Ser86fs)	TGM5 (S86fs)	Deletion (frameshift variant +1 more)	Acral peeling skin syndrome +1 more	GPathogenic/Likely pathogenic
Select item 316066	NM_201631.4(TGM5):c.10+11C>T	TGM5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 316065	NM_201631.4(TGM5):c.11-11C>A	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
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 316063	NM_201631.4(TGM5):c.167A>T (p.Asn56Ile)	TGM5 (N56I)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316062	NM_201631.4(TGM5):c.282C>G (p.Thr94=)	TGM5	Single nucleotide variant (synonymous variant +1 more)	TGM5-related condition +2 more	GBenign/Likely benign
Select item 316061	NM_201631.4(TGM5):c.654C>T (p.Pro218=)	TGM5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 316060	NM_201631.4(TGM5):c.660C>T (p.Tyr220=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 316059	NM_201631.4(TGM5):c.723C>G (p.Asn241Lys)	TGM5 (N241K +1 more)	Single nucleotide variant (missense variant)	TGM5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 316057	NM_201631.4(TGM5):c.768G>A (p.Thr256=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316056	NM_201631.4(TGM5):c.821G>A (p.Arg274His)	TGM5 (R274H +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316055	NM_201631.4(TGM5):c.863-9T>C	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316054	NM_201631.4(TGM5):c.897C>G (p.Ile299Met)	TGM5 (I299M +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316053	NM_201631.4(TGM5):c.918C>T (p.His306=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
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 316051	NM_201631.4(TGM5):c.989A>T (p.Lys330Met)	TGM5 (K330M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 316050	NM_201631.4(TGM5):c.1055C>G (p.Ala352Gly)	TGM5 (A352G +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 316049	NM_201631.4(TGM5):c.1104C>T (p.Asn368=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316048	NM_201631.4(TGM5):c.1106-7C>T	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 316047	NM_201631.4(TGM5):c.1209C>T (p.Cys403=)	TGM5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316046	NM_201631.4(TGM5):c.1252C>A (p.Gln418Lys)	TGM5 (Q418K +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316045	NM_201631.4(TGM5):c.1309C>T (p.Arg437Trp)	TGM5 (R437W +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GBenign
Select item 316044	NM_201631.4(TGM5):c.1471C>T (p.Pro491Ser)	TGM5 (P491S +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316043	NM_201631.4(TGM5):c.1498C>T (p.Arg500Ter)	TGM5 (R500* +1 more)	Single nucleotide variant (nonsense)	Acral peeling skin syndrome	GUncertain significance
Select item 316042	NM_201631.4(TGM5):c.1510G>A (p.Val504Met)	TGM5 (V504M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 316041	NM_201631.4(TGM5):c.1562A>G (p.Gln521Arg)	TGM5 (Q521R +1 more)	Single nucleotide variant (missense variant)	TGM5-related condition +1 more	GBenign
Select item 316040	NM_201631.4(TGM5):c.1689G>A (p.Ala563=)	TGM5	Single nucleotide variant (synonymous variant)	TGM5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 316039	NM_201631.4(TGM5):c.1773C>T (p.Asp591=)	TGM5	Single nucleotide variant (synonymous variant)	TGM5-related condition +2 more	GBenign/Likely benign
Select item 316038	NM_201631.4(TGM5):c.1820A>C (p.Glu607Ala)	TGM5 (E607A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 316037	NM_201631.4(TGM5):c.1822A>G (p.Lys608Glu)	TGM5 (K608E +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GBenign
Select item 316036	NM_201631.4(TGM5):c.*56T>C	TGM5	Single nucleotide variant (3 prime UTR variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316035	NM_201631.4(TGM5):c.*252C>T	TGM5	Single nucleotide variant (3 prime UTR variant)	Acral peeling skin syndrome	GBenign
Select item 316034	NM_201631.4(TGM5):c.*430C>T	TGM5	Single nucleotide variant (3 prime UTR variant)	Acral peeling skin syndrome	GUncertain significance
Select item 157571	NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs)	TGM5 (S604fs +1 more)	Indel (frameshift variant)	Acral peeling skin syndrome	GPathogenic
Select item 157570	NM_201631.4(TGM5):c.640del (p.Leu214fs)	TGM5 (L132fs +1 more)	Deletion (frameshift variant)	Peeling skin syndrome 1	GPathogenic
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 157568	NM_201631.4(TGM5):c.763T>C (p.Trp255Arg)	TGM5 (W255R +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GPathogenic
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 137639	NM_201631.4(TGM5):c.326C>T (p.Thr109Met)	TGM5 (T109M)	Single nucleotide variant (missense variant +1 more)	Acral peeling skin syndrome +1 more	GBenign
Select item 137638	NM_201631.4(TGM5):c.314G>A (p.Cys105Tyr)	TGM5 (C105Y)	Single nucleotide variant (missense variant +1 more)	Acral peeling skin syndrome +1 more	GBenign
Select item 6039	NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	TGM5 (G113C)	Single nucleotide variant (missense variant +1 more)	Acral peeling skin syndrome +3 more	GPathogenic

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Items: 71