ClinVar for Gene (Select 191) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366820	NM_000687.4(AHCY):c.146G>A (p.Arg49His)	AHCY (R21H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358009	NM_001672.3(ASIP):c.357C>T (p.Phe119=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	ASIP-related condition	GLikely benign
Select item 3355302	NM_001672.3(ASIP):c.264C>G (p.Pro88=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	ASIP-related condition	GLikely benign
Select item 3352727	NM_001672.3(ASIP):c.117C>T (p.Asn39=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	ASIP-related condition	GLikely benign
Select item 3352708	NM_001672.3(ASIP):c.186C>T (p.Ile62=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	ASIP-related condition	GLikely benign
Select item 3352471	NM_001672.3(ASIP):c.223-4G>A	AHCY, ASIP	Single nucleotide variant (intron variant)	ASIP-related condition	GLikely benign
Select item 3351464	NM_001672.3(ASIP):c.214T>C (p.Ser72Pro)	AHCY, ASIP (S72P)	Single nucleotide variant (missense variant)	ASIP-related condition	GUncertain significance
Select item 3318239	NM_001672.3(ASIP):c.245T>C (p.Val82Ala)	AHCY, ASIP (V82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276979	NM_000687.4(AHCY):c.364G>A (p.Asp122Asn)	AHCY (D122N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248564	NC_000020.11:g.34210141_34393539dup	AHCY, ASIP +12 more	Duplication	Obesity and hypopigmentation	GPathogenic
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3130390	NM_001672.3(ASIP):c.297C>G (p.Ser99Arg)	AHCY, ASIP (S99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130389	NM_001672.3(ASIP):c.185T>A (p.Ile62Asn)	AHCY, ASIP (I62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130388	NM_001672.3(ASIP):c.116A>T (p.Asn39Ile)	AHCY, ASIP (N39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3037101	NM_000687.4(AHCY):c.1020C>T (p.Ala340=)	AHCY	Single nucleotide variant (synonymous variant)	AHCY-related disorder	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 3016725	NM_000687.4(AHCY):c.766+14A>G	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 3002917	NM_000687.4(AHCY):c.273C>T (p.Ala91=)	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 2990251	NM_000687.4(AHCY):c.255G>A (p.Gln85=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2980984	NM_000687.4(AHCY):c.445+12G>A	AHCY	Single nucleotide variant (intron 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 2976951	NM_000687.4(AHCY):c.129G>A (p.Lys43=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2966390	NM_000687.4(AHCY):c.648G>C (p.Ala216=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2957075	NM_000687.4(AHCY):c.766+13A>G	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2912684	NM_000687.4(AHCY):c.296-12C>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2912335	NM_000687.4(AHCY):c.570C>T (p.Asp190=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2912157	NM_000687.4(AHCY):c.558+1_558+2delinsCG	AHCY	Indel (splice donor variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely pathogenic
Select item 2912156	NM_000687.4(AHCY):c.558+4_558+27del	AHCY	Deletion (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2911108	NM_000687.4(AHCY):c.445+17A>G	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2907866	NM_000687.4(AHCY):c.39C>T (p.Gly13=)	AHCY	Single nucleotide variant (synonymous variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2893172	NM_000687.4(AHCY):c.145del (p.Arg49fs)	AHCY (R21fs +2 more)	Deletion (frameshift variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 2891715	NM_000687.4(AHCY):c.296-13A>G	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
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 2884020	NM_000687.4(AHCY):c.854+18G>A	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2861252	NM_000687.4(AHCY):c.43G>A (p.Ala15Thr)	AHCY (A15T +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +1 more	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 2844826	NM_000687.4(AHCY):c.825C>T (p.Thr275=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2812178	NM_000687.4(AHCY):c.296-4C>G	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2805880	NM_000687.4(AHCY):c.558+20C>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2787821	NM_000687.4(AHCY):c.446-13C>G	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2779542	NM_000687.4(AHCY):c.64C>T (p.Leu22=)	AHCY	Single nucleotide variant (synonymous variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2770783	NM_000687.4(AHCY):c.399C>T (p.Gly133=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2766550	NM_000687.4(AHCY):c.297G>A (p.Val99=)	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 2761063	NM_000687.4(AHCY):c.854+17G>A	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
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 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 2721310	NM_000687.4(AHCY):c.267G>A (p.Ala89=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2718969	NM_000687.4(AHCY):c.28+17G>T	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GBenign
Select item 2718968	NM_000687.4(AHCY):c.28+20del	AHCY	Deletion (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GBenign
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 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 2709283	NM_000687.4(AHCY):c.219+13G>A	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2692385	NM_000687.4(AHCY):c.649G>A (p.Val217Met)	AHCY (V217M +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 2692384	NM_000687.4(AHCY):c.170C>T (p.Thr57Ile)	AHCY (T57I +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 2607819	NM_000687.4(AHCY):c.497A>C (p.Lys166Thr)	AHCY (K168T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584488	NM_000687.4(AHCY):c.106C>T (p.Arg36Trp)	AHCY (R36W +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely pathogenic
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 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 2438932	NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)	AHCY (A23S +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2438931	NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)	AHCY (R205W +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2438930	NM_000687.4(AHCY):c.781A>G (p.Thr261Ala)	AHCY (T233A +2 more)	Single nucleotide variant (missense variant)	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 2426983	NC_000020.10:g.(?_32868840)_(33033286_?)dup	AHCY, ITCH	Duplication	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2423346	NC_000020.10:g.(?_32891029)_(32891076_?)dup	AHCY	Duplication	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
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 2414282	NM_000687.4(AHCY):c.662A>G (p.Tyr221Cys)	AHCY (Y193C +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2414054	NM_000687.4(AHCY):c.141C>T (p.Gly47=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2391812	NM_000687.4(AHCY):c.614G>A (p.Arg205Gln)	AHCY (R207Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374309	NM_001672.3(ASIP):c.134T>C (p.Leu45Pro)	AHCY, ASIP (L45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334266	NM_001672.3(ASIP):c.223A>G (p.Lys75Glu)	AHCY, ASIP (K75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331314	NM_000687.4(AHCY):c.727G>A (p.Glu243Lys)	AHCY (E215K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288899	NM_000687.4(AHCY):c.706G>A (p.Gly236Arg)	AHCY (G238R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243828	NM_000687.4(AHCY):c.142G>A (p.Ala48Thr)	AHCY (A50T +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +1 more	GConflicting classifications of pathogenicity
Select item 2242405	NM_001672.3(ASIP):c.124G>T (p.Val42Leu)	AHCY, ASIP (V42L)	Single nucleotide variant (missense variant)	not specified	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 2230884	NM_000687.4(AHCY):c.560G>A (p.Ser187Asn)	AHCY (S159N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230217	NM_001672.3(ASIP):c.181C>A (p.Gln61Lys)	AHCY, ASIP (Q61K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2202626	NM_000687.4(AHCY):c.36C>T (p.Ile12=)	AHCY	Single nucleotide variant (synonymous variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +1 more	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 2189677	NM_000687.4(AHCY):c.263C>T (p.Ala88Val)	AHCY (A60V +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2186998	NM_000687.4(AHCY):c.220-4C>G	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2182368	NM_000687.4(AHCY):c.29-15T>C	AHCY	Single nucleotide variant (intron variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2166431	NM_000687.4(AHCY):c.46G>C (p.Ala16Pro)	AHCY (A18P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
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 2165253	NM_000687.4(AHCY):c.350C>A (p.Thr117Asn)	AHCY (T119N +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	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 2162725	NM_000687.4(AHCY):c.70A>G (p.Ile24Val)	AHCY (I24V +1 more)	Single nucleotide variant (missense variant +1 more)	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 2155802	NM_000687.4(AHCY):c.822C>T (p.Thr274=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
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 2154096	NM_000687.4(AHCY):c.394G>A (p.Gly132Arg)	AHCY (G134R +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2151359	NM_000687.4(AHCY):c.201C>T (p.Leu67=)	AHCY	Single nucleotide variant (synonymous variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GLikely benign
Select item 2150243	NM_000687.4(AHCY):c.202G>A (p.Val68Ile)	AHCY (V68I +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2149853	NM_000687.4(AHCY):c.647C>T (p.Ala216Val)	AHCY (A218V +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 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

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