AHCY[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338264	NM_000687.4(AHCY):c.*679A>T	AHCY	Single nucleotide variant (3 prime UTR variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GBenign
Select item 338265	NM_000687.4(AHCY):c.*678C>T	AHCY	Single nucleotide variant (3 prime UTR variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 338266	NM_000687.4(AHCY):c.*621T>C	AHCY	Single nucleotide variant (3 prime UTR variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 898235	NM_000687.4(AHCY):c.*583G>C	AHCY	Single nucleotide variant (3 prime UTR variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 898236	NM_000687.4(AHCY):c.*427T>C	AHCY	Single nucleotide variant (3 prime UTR variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 899347	NM_000687.4(AHCY):c.*417A>T	AHCY	Single nucleotide variant (3 prime UTR variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 338267	NM_000687.4(AHCY):c.*301T>G	AHCY	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GBenign
Select item 899348	NM_000687.4(AHCY):c.*181C>T	AHCY	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 899349	NM_000687.4(AHCY):c.*112G>A	AHCY	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2428070	NM_000687.4(AHCY):c.1296C>G (p.Tyr432Ter)	AHCY (Y404* +2 more)	Single nucleotide variant (nonsense)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1949737	NM_000687.4(AHCY):c.1292G>A (p.Arg431His)	AHCY (R431H +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2149211	NM_000687.4(AHCY):c.1282G>A (p.Asp428Asn)	AHCY (D400N +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1697191	NM_000687.4(AHCY):c.1280C>T (p.Pro427Leu)	AHCY (P399L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452110	NM_000687.4(AHCY):c.1273T>G (p.Phe425Val)	AHCY (F397V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060589	NM_000687.4(AHCY):c.1261T>C (p.Cys421Arg)	AHCY (C421R +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1548671	NM_000687.4(AHCY):c.1236G>A (p.Lys412=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1037891	NM_000687.4(AHCY):c.1228A>T (p.Thr410Ser)	AHCY (T382S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2108633	NM_000687.4(AHCY):c.1223A>T (p.Lys408Met)	AHCY (K408M +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2076621	NM_000687.4(AHCY):c.1223A>G (p.Lys408Arg)	AHCY (K380R +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2016967	NM_000687.4(AHCY):c.1215G>A (p.Lys405=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2071752	NM_000687.4(AHCY):c.1210G>A (p.Val404Met)	AHCY (V376M +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1522574	NM_000687.4(AHCY):c.1190C>T (p.Ala397Val)	AHCY (A369V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 338268	NM_000687.4(AHCY):c.1188A>T (p.Glu396Asp)	AHCY (E368D +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 338269	NM_000687.4(AHCY):c.1170G>A (p.Leu390=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia	GUncertain significance
Select item 2231293	NM_000687.4(AHCY):c.1168-5C>T	AHCY	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1659112	NM_000687.4(AHCY):c.1168-9T>C	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1169161	NM_000687.4(AHCY):c.1168-14T>C	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GBenign
Select item 1564552	NM_000687.4(AHCY):c.1168-16C>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1269892	NM_000687.4(AHCY):c.1168-64C>G	AHCY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1644056	NM_000687.4(AHCY):c.1167+14_1167+16del	AHCY	Microsatellite (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 899350	NM_000687.4(AHCY):c.1167+15C>A	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1905292	NM_000687.4(AHCY):c.1160C>T (p.Pro387Leu)	AHCY (P387L +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 862308	NM_000687.4(AHCY):c.1142T>C (p.Val381Ala)	AHCY (V383A +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2157031	NM_000687.4(AHCY):c.1140C>T (p.Pro380=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1936920	NM_000687.4(AHCY):c.1134G>C (p.Lys378Asn)	AHCY (K380N +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2148656	NM_000687.4(AHCY):c.1133A>G (p.Lys378Arg)	AHCY (K350R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2529444	NM_000687.4(AHCY):c.1124A>G (p.His375Arg)	AHCY (H375R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2162849	NM_000687.4(AHCY):c.1114C>T (p.Leu372=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2990852	NM_000687.4(AHCY):c.1110C>A (p.Ile370=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2980382	NM_000687.4(AHCY):c.1110C>T (p.Ile370=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2421080	NM_000687.4(AHCY):c.1104G>A (p.Ala368=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1975135	NM_000687.4(AHCY):c.1103C>T (p.Ala368Val)	AHCY (A340V +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2059093	NM_000687.4(AHCY):c.1096G>A (p.Val366Met)	AHCY (V368M +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1965558	NM_000687.4(AHCY):c.1089C>T (p.Thr363=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2762461	NM_000687.4(AHCY):c.1086C>T (p.Phe362=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1937790	NM_000687.4(AHCY):c.1068C>T (p.Phe356=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 754094	NM_000687.4(AHCY):c.1062C>T (p.Pro354=)	AHCY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570425	NM_000687.4(AHCY):c.1045T>A (p.Cys349Ser)	AHCY (C321S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2847464	NM_000687.4(AHCY):c.1029G>T (p.Arg343=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 386309	NM_000687.4(AHCY):c.1025G>T (p.Gly342Val)	AHCY (G314V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037101	NM_000687.4(AHCY):c.1020C>T (p.Ala340=)	AHCY	Single nucleotide variant (synonymous variant)	AHCY-related disorder	GLikely benign
Select item 899351	NM_000687.4(AHCY):c.1019C>G (p.Ala340Gly)	AHCY (A312G +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 733249	NM_000687.4(AHCY):c.1015C>T (p.Leu339=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1389466	NM_000687.4(AHCY):c.1009A>G (p.Ile337Val)	AHCY (I309V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 788175	NM_000687.4(AHCY):c.1008C>T (p.Ile336=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GConflicting classifications of pathogenicity
Select item 2154277	NM_000687.4(AHCY):c.1004G>A (p.Arg335His)	AHCY (R307H +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 720015	NM_000687.4(AHCY):c.1003C>T (p.Arg335Cys)	AHCY (R307C +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1045453	NM_000687.4(AHCY):c.1001G>A (p.Arg334His)	AHCY (R336H +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 653403	NM_000687.4(AHCY):c.1000C>T (p.Arg334Cys)	AHCY (R306C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1971097	NM_000687.4(AHCY):c.987G>A (p.Arg329=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2165404	NM_000687.4(AHCY):c.986G>A (p.Arg329Gln)	AHCY (R301Q +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 846757	NM_000687.4(AHCY):c.985C>T (p.Arg329Trp)	AHCY (R331W +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1303246	NM_000687.4(AHCY):c.982T>G (p.Tyr328Asp)	AHCY (Y300D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1087319	NM_000687.4(AHCY):c.981G>A (p.Arg327=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1916967	NM_000687.4(AHCY):c.980G>A (p.Arg327Gln)	AHCY (R299Q +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 853673	NM_000687.4(AHCY):c.979C>T (p.Arg327Trp)	AHCY (R329W +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2890143	NM_000687.4(AHCY):c.973-6G>C	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2197032	NM_000687.4(AHCY):c.973-6G>A	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 338270	NM_000687.4(AHCY):c.973-7C>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +1 more	GBenign
Select item 2740465	NM_000687.4(AHCY):c.973-10C>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 3023538	NM_000687.4(AHCY):c.973-17G>C	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1906769	NM_000687.4(AHCY):c.973-17G>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1237872	NM_000687.4(AHCY):c.973-154G>A	AHCY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231857	NM_000687.4(AHCY):c.973-179C>T	AHCY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245952	NM_000687.4(AHCY):c.972+143C>T	AHCY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2145175	NM_000687.4(AHCY):c.972+13C>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2069585	NM_000687.4(AHCY):c.969G>A (p.Pro323=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 753653	NM_000687.4(AHCY):c.966G>A (p.Lys322=)	AHCY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980259	NM_000687.4(AHCY):c.963C>A (p.Ile321=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2716670	NM_000687.4(AHCY):c.954G>A (p.Lys318=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2057978	NM_000687.4(AHCY):c.946G>A (p.Val316Met)	AHCY (V316M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 722084	NM_000687.4(AHCY):c.945C>T (p.Ala315=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2091149	NM_000687.4(AHCY):c.943G>T (p.Ala315Ser)	AHCY (A317S +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1981346	NM_000687.4(AHCY):c.943G>A (p.Ala315Thr)	AHCY (A315T +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 734541	NM_000687.4(AHCY):c.942C>T (p.Asn314=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 3097996	NM_000687.4(AHCY):c.941A>G (p.Asn314Ser)	AHCY (N314S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2742163	NM_000687.4(AHCY):c.937G>A (p.Glu313Lys)	AHCY (E285K +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 895251	NM_000687.4(AHCY):c.936C>T (p.Asn312=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GConflicting classifications of pathogenicity
Select item 2714544	NM_000687.4(AHCY):c.924C>G (p.Val308=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 338271	NM_000687.4(AHCY):c.918C>T (p.Ile306=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GConflicting classifications of pathogenicity
Select item 2076152	NM_000687.4(AHCY):c.910G>A (p.Val304Met)	AHCY (V306M +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 1977243	NM_000687.4(AHCY):c.910G>T (p.Val304Leu)	AHCY (V304L +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2086169	NM_000687.4(AHCY):c.883A>G (p.Ile295Val)	AHCY (I295V +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2011118	NM_000687.4(AHCY):c.882del (p.Ile295fs)	AHCY (I295fs +2 more)	Deletion (frameshift variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 741280	NM_000687.4(AHCY):c.882C>G (p.Ala294=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GConflicting classifications of pathogenicity
Select item 1438736	NM_000687.4(AHCY):c.875A>G (p.Asp292Gly)	AHCY (D294G +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 338272	NM_000687.4(AHCY):c.855-8C>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GConflicting classifications of pathogenicity
Select item 2017043	NM_000687.4(AHCY):c.855-9G>C	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 1652334	NM_000687.4(AHCY):c.854+19dup	AHCY	Duplication (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GBenign
Select item 2884020	NM_000687.4(AHCY):c.854+18G>A	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign

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