191[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 3248564	NC_000020.11:g.34210141_34393539dup	AHCY, ASIP +12 more	Duplication	Obesity and hypopigmentation	GPathogenic
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 3352727	NM_001672.3(ASIP):c.117C>T (p.Asn39=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	ASIP-related condition	GLikely benign
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 2374309	NM_001672.3(ASIP):c.134T>C (p.Leu45Pro)	AHCY, ASIP (L45P)	Single nucleotide variant (missense variant)	not specified	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 3130389	NM_001672.3(ASIP):c.185T>A (p.Ile62Asn)	AHCY, ASIP (I62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3352471	NM_001672.3(ASIP):c.223-4G>A	AHCY, ASIP	Single nucleotide variant (intron variant)	ASIP-related condition	GLikely benign
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 3318239	NM_001672.3(ASIP):c.245T>C (p.Val82Ala)	AHCY, ASIP (V82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 775119	NM_001672.3(ASIP):c.264C>A (p.Pro88=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3358009	NM_001672.3(ASIP):c.357C>T (p.Phe119=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	ASIP-related condition	GLikely benign
Select item 9308	NM_001672.3(ASIP):c.*25A>G	AHCY, ASIP	Single nucleotide variant (3 prime UTR variant)	SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR	Gassociation
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 +1 more	GBenign
Select item 899348	NM_000687.4(AHCY):c.*181C>T	AHCY	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 +1 more	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)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +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)	not provided +1 more	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)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +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)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +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

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