ClinVar for MedGen (Select 1635401) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679193	NM_000359.3(TGM1):c.1927+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679192	NM_000359.3(TGM1):c.60_63dup (p.Thr22fs)	TGM1 (T22fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679191	NM_000359.3(TGM1):c.1366C>T (p.Gln456Ter)	TGM1 (Q456*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679190	NM_000359.3(TGM1):c.2247_2248del (p.Val750fs)	TGM1 (V750fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679189	NM_000359.3(TGM1):c.877-1G>A	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679188	NM_000359.3(TGM1):c.1194_1209dup (p.Ala404fs)	TGM1 (A404fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679187	NM_000359.3(TGM1):c.1515G>A (p.Trp505Ter)	TGM1 (W505*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679186	NM_000359.3(TGM1):c.-2-1G>C	LOC107882126, TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679185	NM_000359.3(TGM1):c.953del (p.Pro318fs)	TGM1 (P318fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679184	NM_000359.3(TGM1):c.1402+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679183	NM_000359.3(TGM1):c.1645+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679182	NM_000359.3(TGM1):c.578G>A (p.Trp193Ter)	TGM1 (W193*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 2679181	NM_000359.3(TGM1):c.757+1G>C	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679180	NM_000359.3(TGM1):c.1755_1762dup (p.Ala588fs)	TGM1 (A588fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679179	NM_000359.3(TGM1):c.344dup (p.Asp116fs)	TGM1 (D116fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679178	NM_000359.3(TGM1):c.925_945delinsCGGG (p.Gly309fs)	TGM1 (G309fs)	Indel (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679177	NM_000359.3(TGM1):c.254C>A (p.Ser85Ter)	TGM1 (S85*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679176	NM_000359.3(TGM1):c.1928-1G>C	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679175	NM_000359.3(TGM1):c.1472C>T (p.Thr491Met)	TGM1 (T491M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GLikely pathogenic
Select item 2679174	NM_000359.3(TGM1):c.1712_1785del (p.Ala571fs)	TGM1 (A571fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679173	NM_000359.3(TGM1):c.425_426delinsAA (p.Arg142Gln)	TGM1 (R142Q)	Indel (missense variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679172	NM_000359.3(TGM1):c.1145_1146delinsTGCT (p.Gly382fs)	TGM1 (G382fs)	Indel (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679171	NM_000359.3(TGM1):c.674G>C (p.Arg225Pro)	TGM1 (R225P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679170	NM_000359.3(TGM1):c.1985del (p.Gln662fs)	TGM1 (Q662fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2585387	NM_000359.3(TGM1):c.344T>G (p.Val115Gly)	TGM1 (V115G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2585365	NM_000359.3(TGM1):c.748T>G (p.Trp250Gly)	TGM1 (W250G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2579661	NM_000359.3(TGM1):c.655A>G (p.Lys219Glu)	TGM1 (K219E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2579660	NM_000359.3(TGM1):c.2350G>T (p.Val784Leu)	TGM1 (V784L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2437071	NM_000359.3(TGM1):c.1318G>T (p.Asp440Tyr)	TGM1 (D440Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2434143	NM_000359.3(TGM1):c.365C>A (p.Ser122Ter)	TGM1 (S122*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2434140	NM_000359.3(TGM1):c.1401dup (p.Gly468fs)	TGM1 (G468fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2112759	NM_000359.3(TGM1):c.398del (p.Glu133fs)	TGM1 (E133fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2022097	NM_000359.3(TGM1):c.488del (p.Ile163fs)	TGM1 (I163fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1806489	NM_000359.3(TGM1):c.874C>T (p.Gln292Ter)	TGM1 (Q292*)	Single nucleotide variant (nonsense)	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 1726211	NM_000359.3(TGM1):c.1090_1091del (p.Ser364fs)	TGM1 (S364fs)	Deletion (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 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 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 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 1725646	NM_000359.3(TGM1):c.1329_1330del (p.Met443fs)	TGM1 (M443fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1725640	NM_000359.3(TGM1):c.335_336del (p.Val112fs)	TGM1 (V112fs)	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 1725418	NM_000359.3(TGM1):c.1175del (p.Gly392fs)	TGM1 (G392fs)	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 1725172	NM_000359.3(TGM1):c.1281_1282del (p.Asn428fs)	TGM1 (N428fs)	Deletion (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 1724712	NM_000359.3(TGM1):c.1714_1715insTCAGATCCTGCCCCATC (p.Asn572fs)	TGM1 (N572fs)	Insertion (frameshift variant)	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 1724691	NM_000359.3(TGM1):c.1625_1626insTC (p.Leu543fs)	TGM1 (L543fs)	Insertion (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 1724361	NM_000359.3(TGM1):c.1129del (p.Cys377fs)	TGM1 (C377fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 1698877	NM_000359.3(TGM1):c.814T>C (p.Ser272Pro)	TGM1 (S272P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GLikely pathogenic
Select item 1555661	NM_000359.3(TGM1):c.920G>A (p.Arg307Gln)	TGM1 (R307Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1511895	NM_000359.3(TGM1):c.1645+1G>T	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 1459722	NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter)	TGM1 (L697*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 1458607	NM_000359.3(TGM1):c.408_411dup (p.Glu138fs)	TGM1 (E138fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 1453639	NM_000359.3(TGM1):c.2060G>A (p.Arg687His)	TGM1 (R687H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1435036	NM_000359.3(TGM1):c.1552del (p.Val518fs)	TGM1 (V518fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1419049	NM_000359.3(TGM1):c.607C>T (p.Gln203Ter)	TGM1 (Q203*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1342288	NM_000359.3(TGM1):c.*4C>T	TGM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GBenign
Select item 1339202	NM_000359.3(TGM1):c.844C>T (p.Gln282Ter)	TGM1 (Q282*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely 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 1333584	NM_000359.3(TGM1):c.964T>C (p.Ser322Pro)	TGM1 (S322P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 1333263	NM_000359.3(TGM1):c.541G>A (p.Val181Met)	TGM1 (V181M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 1333234	NM_000359.3(TGM1):c.984+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 1307378	NM_000359.3(TGM1):c.418A>G (p.Ile140Val)	TGM1 (I140V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1195231	NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter)	TGM1 (K422*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1170827	NM_000359.3(TGM1):c.-182C>T	LOC107882126, TGM1	Single nucleotide variant	not provided	GBenign
Select item 1096054	NM_000359.3(TGM1):c.2254C>T (p.Leu752=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088324	NM_000359.3(TGM1):c.1539C>T (p.Phe513=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074310	NM_000359.3(TGM1):c.211C>T (p.Arg71Ter)	TGM1 (R71*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 1050812	NM_000359.3(TGM1):c.674_675delinsCT (p.Arg225Pro)	TGM1 (R225P)	Indel (missense variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 1049985	NM_000359.3(TGM1):c.2047C>T (p.Gln683Ter)	TGM1 (Q683*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 991823	NM_000359.3(TGM1):c.445A>G (p.Met149Val)	TGM1 (M149V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991822	NM_000359.3(TGM1):c.464G>C (p.Arg155Pro)	TGM1 (R155P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991821	NM_000359.3(TGM1):c.509-331G>A	TGM1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991820	NM_000359.3(TGM1):c.509-7A>G	TGM1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991819	NM_000359.3(TGM1):c.555G>A (p.Val185=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991818	NM_000359.3(TGM1):c.604G>A (p.Gly202Arg)	TGM1 (G202R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991817	NM_000359.3(TGM1):c.638C>G (p.Pro213Arg)	TGM1 (P213R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991816	NM_000359.3(TGM1):c.772G>A (p.Val258Met)	TGM1 (V258M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991815	NM_000359.3(TGM1):c.937G>A (p.Gly313Arg)	TGM1 (G313R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991814	NM_000359.3(TGM1):c.1081A>G (p.Ile361Val)	TGM1 (I361V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991813	NM_000359.3(TGM1):c.1102A>G (p.Thr368Ala)	TGM1 (T368A)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991812	NM_000359.3(TGM1):c.1216G>A (p.Asp406Asn)	TGM1 (D406N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991811	NM_000359.3(TGM1):c.1227A>C (p.Thr409=)	TGM1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991810	NM_000359.3(TGM1):c.1234A>G (p.Thr412Ala)	TGM1 (T412A)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991809	NM_000359.3(TGM1):c.1338G>A (p.Pro446=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991808	NM_000359.3(TGM1):c.1473G>A (p.Thr491=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991807	NM_000359.3(TGM1):c.1754C>T (p.Ala585Val)	TGM1 (A585V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991806	NM_000359.3(TGM1):c.1820G>C (p.Arg607Pro)	TGM1 (R607P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991805	NM_000359.3(TGM1):c.1840C>T (p.Leu614Phe)	TGM1 (L614F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991804	NM_000359.3(TGM1):c.1905A>C (p.Glu635Asp)	TGM1 (E635D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 991483	NM_000359.3(TGM1):c.2029G>A (p.Gly677Arg)	TGM1 (G677R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 991482	NM_000359.3(TGM1):c.2184C>T (p.Leu728=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991481	NM_000359.3(TGM1):c.2185G>A (p.Glu729Lys)	TGM1 (E729K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991480	NM_000359.3(TGM1):c.2243A>G (p.Glu748Gly)	TGM1 (E748G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 991479	NM_000359.3(TGM1):c.2377G>A (p.Gly793Arg)	TGM1 (G793R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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