Related gene-specific medical variations for Gene (Select 275) - ClinVar

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

Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3589448	NM_000481.4(AMT):c.490C>T (p.Gln164Ter)	AMT (Q164* +2 more)	Single nucleotide variant (nonsense +1 more)	Glycine encephalopathy 2	GLikely pathogenic
Select item 3589447	NM_000481.4(AMT):c.627del (p.Met210fs)	AMT (M166fs +2 more)	Deletion (frameshift variant +1 more)	Glycine encephalopathy 2	GLikely pathogenic
Select item 3589446	NM_000481.4(AMT):c.683_684del (p.Glu228fs)	AMT (E228fs +2 more)	Microsatellite (frameshift variant +1 more)	Glycine encephalopathy 2	GLikely pathogenic
Select item 3589445	NM_000481.4(AMT):c.697-2A>G	AMT	Single nucleotide variant (splice acceptor variant)	Glycine encephalopathy 2	GLikely pathogenic
Select item 3246872	NC_000003.11:g.(?_49454973)_(49456604_?)del	AMT	Deletion	Glycine encephalopathy	GPathogenic
Select item 3239762	NM_000481.4(AMT):c.91-1G>T	AMT	Single nucleotide variant (intron variant +1 more)	Glycine encephalopathy 1	GLikely pathogenic
Select item 2897767	NM_000481.4(AMT):c.90+12G>A	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GLikely benign
Select item 2817002	NM_000481.4(AMT):c.90+20T>C	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GLikely benign
Select item 2795778	NM_000481.4(AMT):c.21G>C (p.Val7=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 2728883	NM_000481.4(AMT):c.90+13G>A	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GLikely benign
Select item 2725125	NM_000481.4(AMT):c.18T>C (p.Ser6=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 2676723	NM_000481.4(AMT):c.1063dup (p.Ser355fs)	AMT (S299fs +2 more)	Duplication (frameshift variant +1 more)	Glycine encephalopathy	GLikely pathogenic
Select item 2676718	NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)	AMT	Duplication (nonsense +1 more)	Glycine encephalopathy	GLikely pathogenic
Select item 2676715	NM_000481.4(AMT):c.259-2A>T	AMT	Single nucleotide variant (splice acceptor variant)	Glycine encephalopathy 1	GLikely pathogenic
Select item 2676709	NM_000481.4(AMT):c.419dup (p.Tyr141fs)	AMT (Y141fs +1 more)	Duplication (frameshift variant +2 more)	Glycine encephalopathy	GLikely pathogenic
Select item 2676707	NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)	AMT	Deletion (nonsense +2 more)	Glycine encephalopathy	GLikely pathogenic
Select item 2441374	NM_000481.4(AMT):c.339+2T>C	AMT	Single nucleotide variant (splice donor variant)	Glycine encephalopathy +1 more	GLikely pathogenic
Select item 2439033	NM_000481.4(AMT):c.1033+5G>A	AMT	Single nucleotide variant (intron variant)	Glycine encephalopathy 2	GUncertain significance
Select item 2180383	NM_000481.4(AMT):c.13G>C (p.Val5Leu)	AMT, NICN1 (V5L)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 2173168	NM_000481.4(AMT):c.6G>A (p.Gln2=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 2169739	NM_000481.4(AMT):c.90+5G>C	NICN1, AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GUncertain significance
Select item 2151648	NM_000481.4(AMT):c.41G>A (p.Arg14His)	AMT, NICN1 (R14H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2132636	NM_000481.4(AMT):c.90+1G>T	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GLikely pathogenic
Select item 2126729	NM_000481.4(AMT):c.87A>G (p.Ala29=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 2125421	NM_000481.4(AMT):c.12T>A (p.Ala4=)	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 2102638	NM_000481.4(AMT):c.74del (p.Pro25fs)	AMT, NICN1 (P25fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy	GPathogenic
Select item 2087329	NM_000481.4(AMT):c.62C>T (p.Ala21Val)	AMT, NICN1 (A21V)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 2073847	NM_000481.4(AMT):c.10del (p.Ala4fs)	AMT, NICN1 (A4fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy	GPathogenic
Select item 2044305	NM_000481.4(AMT):c.77T>A (p.Leu26His)	AMT, NICN1 (L26H)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy +1 more	GUncertain significance
Select item 2040517	NM_000481.4(AMT):c.28C>G (p.Arg10Gly)	AMT, NICN1 (R10G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2007907	NM_000481.4(AMT):c.70C>G (p.Arg24Gly)	AMT, NICN1 (R24G)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 2006943	NM_000481.4(AMT):c.75A>G (p.Pro25=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 1992640	NM_000481.4(AMT):c.67T>C (p.Cys23Arg)	AMT, NICN1 (C23R)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1991982	NM_000481.4(AMT):c.35G>A (p.Gly12Asp)	AMT, NICN1 (G12D)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1986331	NM_000481.4(AMT):c.40C>T (p.Arg14Cys)	AMT, NICN1 (R14C)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1957256	NM_000481.4(AMT):c.29G>C (p.Arg10Pro)	AMT, NICN1 (R10P)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1942956	NM_000481.4(AMT):c.13G>A (p.Val5Ile)	AMT, NICN1 (V5I)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1941226	NM_000481.4(AMT):c.90+10A>G	NICN1, AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GLikely benign
Select item 1623440	NM_000481.4(AMT):c.54C>T (p.Phe18=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 1570889	NM_000481.4(AMT):c.57C>T (p.Pro19=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 1563540	NM_000481.4(AMT):c.66G>A (p.Leu22=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 1541657	NM_000481.4(AMT):c.81T>C (p.Ser27=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 1518041	NM_000481.4(AMT):c.22G>A (p.Val8Met)	AMT, NICN1 (V8M)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1513748	NM_000481.4(AMT):c.90+4G>A	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GUncertain significance
Select item 1485479	NM_000481.4(AMT):c.73C>T (p.Pro25Ser)	AMT, NICN1 (P25S)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1474058	NM_000481.4(AMT):c.52T>C (p.Phe18Leu)	AMT, NICN1 (F18L)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1457206	NM_000481.4(AMT):c.2T>C (p.Met1Thr)	AMT, NICN1 (M1T)	Single nucleotide variant (missense variant +3 more)	Glycine encephalopathy	GPathogenic
Select item 1453525	NM_000481.4(AMT):c.59dup (p.Ala21fs)	AMT, NICN1 (A21fs)	Duplication (frameshift variant +2 more)	Glycine encephalopathy	GPathogenic
Select item 1447287	NM_000481.4(AMT):c.46C>T (p.Gln16Ter)	AMT, NICN1 (Q16*)	Single nucleotide variant (nonsense +2 more)	Glycine encephalopathy 1 +1 more	GPathogenic
Select item 1412367	NM_000481.4(AMT):c.10G>C (p.Ala4Pro)	AMT, NICN1 (A4P)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1404115	NM_000481.4(AMT):c.29G>A (p.Arg10His)	AMT, NICN1 (R10H)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 1323888	NM_000481.4(AMT):c.3G>A (p.Met1Ile)	AMT, NICN1 (M1I)	Single nucleotide variant (missense variant +3 more)	Glycine encephalopathy 2	GLikely pathogenic
Select item 1323886	NM_000481.4(AMT):c.472-2A>T	AMT	Single nucleotide variant (splice acceptor variant)	Glycine encephalopathy 2	GLikely pathogenic
Select item 1114852	NM_000481.4(AMT):c.42C>T (p.Arg14=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 1107430	NM_000481.4(AMT):c.43C>T (p.Leu15=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 1093915	NM_000481.4(AMT):c.90+9G>C	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GLikely benign
Select item 1071338	NM_000481.4(AMT):c.2T>A (p.Met1Lys)	AMT, NICN1 (M1K)	Single nucleotide variant (missense variant +3 more)	Glycine encephalopathy	GPathogenic
Select item 1051527	NM_000481.4(AMT):c.70C>T (p.Arg24Cys)	AMT, NICN1 (R24C)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 991888	NM_000481.4(AMT):c.877+4A>T	AMT	Single nucleotide variant (intron variant)	Glycine encephalopathy	GUncertain significance
Select item 983339	NM_000481.4(AMT):c.362A>G (p.Asn121Ser)	AMT (N121S +1 more)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy 1	GUncertain significance
Select item 972077	NM_000481.4(AMT):c.90+10A>T	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycine encephalopathy	GLikely benign
Select item 967829	NM_000481.4(AMT):c.59C>T (p.Pro20Leu)	AMT, NICN1 (P20L)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy +1 more	GUncertain significance
Select item 899723	NM_000481.4(AMT):c.86C>T (p.Ala29Val)	AMT, NICN1 (A29V)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GUncertain significance
Select item 804522	NM_000481.4(AMT):c.-1G>A	AMT, NICN1	Single nucleotide variant (5 prime UTR variant +2 more)	Glycine encephalopathy +1 more	GBenign
Select item 651917	NM_000481.4(AMT):c.60G>A (p.Pro20=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 645720	NM_000481.4(AMT):c.78T>C (p.Leu26=)	NICN1, AMT	Single nucleotide variant (synonymous variant +2 more)	Glycine encephalopathy	GLikely benign
Select item 623331	NM_000481.4(AMT):c.20_21del (p.Val7fs)	AMT, NICN1 (V7fs)	Microsatellite (frameshift variant +2 more)	Glycine encephalopathy	GPathogenic
Select item 594847	NM_000481.4(AMT):c.14dup (p.Ser6fs)	AMT, NICN1 (S6fs)	Duplication (frameshift variant +2 more)	Glycine encephalopathy 1 +2 more	GPathogenic/Likely pathogenic
Select item 556727	NM_000481.4(AMT):c.57_59dup (p.Pro20_Ala21insPro)	AMT, NICN1	Duplication (inframe_indel +3 more)	Glycine encephalopathy	GUncertain significance
Select item 552502	NM_000481.4(AMT):c.15_18del (p.Ser6fs)	AMT, NICN1 (S6fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy	GPathogenic/Likely pathogenic
Select item 449697	NM_000481.4(AMT):c.16del (p.Ser6fs)	AMT, NICN1 (S6fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 374705	NM_000481.4(AMT):c.13G>T (p.Val5Leu)	AMT, NICN1 (V5L)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy +1 more	GUncertain significance
Select item 346038	NM_000481.4(AMT):c.84C>T (p.Cys28=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56237	NM_000481.4(AMT):c.63del (p.Leu22fs)	AMT, NICN1 (L22fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy	GLikely pathogenic
Select item 56236	NM_000481.4(AMT):c.61del (p.Ala21fs)	AMT, NICN1 (A21fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy	GLikely pathogenic
Select item 56235	NM_000481.4(AMT):c.59del (p.Pro20fs)	AMT, NICN1 (P20fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy	GPathogenic
Select item 56234	NM_000481.4(AMT):c.535del (p.Leu179fs)	AMT (L135fs +2 more)	Deletion (frameshift variant +1 more)	Glycine encephalopathy	GLikely pathogenic
Select item 56230	NM_000481.4(AMT):c.259-1G>C	AMT	Single nucleotide variant (splice acceptor variant)	Glycine encephalopathy	GLikely pathogenic
Select item 56227	NM_000481.4(AMT):c.148del (p.Val50fs)	AMT (V50fs)	Deletion (frameshift variant +2 more)	Glycine encephalopathy	GLikely pathogenic
Select item 56226	NM_000481.4(AMT):c.139G>T (p.Gly47Trp)	AMT (G47W)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 80