ClinVar for Gene (Select 10157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143309	NM_005763.4(AASS):c.2512A>G (p.Met838Val)	AASS (M838V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143012	NM_005763.4(AASS):c.2116A>G (p.Thr706Ala)	AASS (T706A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142949	NM_005763.4(AASS):c.2071T>G (p.Phe691Val)	AASS (F691V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142731	NM_005763.4(AASS):c.1906C>G (p.Leu636Val)	AASS (L636V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142632	NM_005763.4(AASS):c.1778C>T (p.Ala593Val)	AASS (A593V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142616	NM_005763.4(AASS):c.1774G>T (p.Asp592Tyr)	AASS (D592Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142591	NM_005763.4(AASS):c.176T>C (p.Ile59Thr)	AASS (I59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142508	NM_005763.4(AASS):c.1539G>T (p.Met513Ile)	AASS (M513I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142457	NM_005763.4(AASS):c.1370A>T (p.Asp457Val)	AASS (D457V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142425	NM_005763.4(AASS):c.1282T>G (p.Leu428Val)	AASS (L428V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142344	NM_005763.4(AASS):c.1091A>G (p.Glu364Gly)	AASS (E364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142311	NM_005763.4(AASS):c.1012G>A (p.Gly338Ser)	AASS (G338S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065764	NM_005763.4(AASS):c.2397-1G>T	AASS	Single nucleotide variant (splice acceptor variant)	Hyperlysinemia	GLikely pathogenic
Select item 3063765	NM_005763.4(AASS):c.904dup (p.Tyr302fs)	AASS (Y302fs)	Duplication (frameshift variant)	Hyperlysinemia	GPathogenic
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3044025	NM_005763.4(AASS):c.-9G>A	AASS	Single nucleotide variant (5 prime UTR variant)	AASS-related disorder	GLikely benign
Select item 3021451	NM_005763.4(AASS):c.1406+14A>C	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3009551	NM_005763.4(AASS):c.1725T>A (p.Thr575=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987457	NM_005763.4(AASS):c.1655+8T>A	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976234	NM_005763.4(AASS):c.2485+10G>C	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962300	NM_005763.4(AASS):c.210+6T>A	AASS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2961271	NM_005763.4(AASS):c.1278+19T>C	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959806	NM_005763.4(AASS):c.1884A>G (p.Ser628=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2957962	NM_005763.4(AASS):c.1345A>C (p.Ile449Leu)	AASS (I449L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889135	NM_005763.4(AASS):c.123G>A (p.Pro41=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882479	NM_005763.4(AASS):c.2276C>T (p.Thr759Ile)	AASS (T759I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835613	NM_005763.4(AASS):c.895-10dup	AASS	Duplication (intron variant)	not provided	GLikely benign
Select item 2801023	NM_005763.4(AASS):c.1338+10G>A	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788680	NM_005763.4(AASS):c.76T>C (p.Leu26=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785433	NM_005763.4(AASS):c.99G>T (p.Val33=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785293	NM_005763.4(AASS):c.738T>C (p.His246=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765312	NM_005763.4(AASS):c.292G>A (p.Glu98Lys)	AASS (E98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747907	NM_005763.4(AASS):c.714A>G (p.Leu238=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730462	NM_005763.4(AASS):c.1044-8A>G	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730461	NM_005763.4(AASS):c.1179G>A (p.Ser393=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722163	NM_005763.4(AASS):c.2633C>A (p.Thr878Asn)	AASS (T878N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694594	NM_005763.4(AASS):c.1656-18T>C	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2682543	NC_000007.13:g.(121733213_121738503)_(121784304_?)del	AASS	Deletion	Hyperlysinemia	GPathogenic
Select item 2681293	NM_005763.4(AASS):c.671C>T (p.Thr224Ile)	AASS (T224I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2663547	NM_005763.4(AASS):c.2428C>T (p.Gln810Ter)	AASS (Q810*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2657970	NM_005763.4(AASS):c.466G>A (p.Val156Met)	AASS (V156M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657969	NM_005763.4(AASS):c.2634C>T (p.Thr878=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621206	NM_005763.4(AASS):c.2224C>T (p.Leu742Phe)	AASS (L742F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609980	NM_005763.4(AASS):c.1874C>A (p.Thr625Lys)	AASS (T625K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596874	NM_005763.4(AASS):c.2468T>A (p.Val823Asp)	AASS (V823D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595028	NM_005763.4(AASS):c.94G>A (p.Asp32Asn)	AASS (D32N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532152	NM_005763.4(AASS):c.2027T>G (p.Val676Gly)	AASS (V676G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483628	NM_005763.4(AASS):c.2300T>G (p.Leu767Arg)	AASS (L767R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473582	NM_005763.4(AASS):c.2165G>A (p.Arg722Gln)	AASS (R722Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469360	NM_005763.4(AASS):c.1175G>A (p.Gly392Asp)	AASS (G392D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438707	NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)	AASS (Y578C)	Single nucleotide variant (missense variant)	Hyperlysinemia	GUncertain significance
Select item 2425417	NC_000007.13:g.(?_121738484)_(121773780_?)del	AASS	Deletion	not provided	GPathogenic
Select item 2421989	NM_005763.4(AASS):c.688-3T>C	AASS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2415326	NM_005763.4(AASS):c.1434C>T (p.Gly478=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382794	NM_005763.4(AASS):c.1226T>C (p.Ile409Thr)	AASS (I409T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378021	NM_005763.4(AASS):c.1554A>C (p.Glu518Asp)	AASS (E518D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356080	NM_005763.4(AASS):c.2350C>A (p.Leu784Ile)	AASS (L784I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352917	NM_005763.4(AASS):c.2729G>A (p.Arg910Gln)	AASS (R910Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350471	NM_005763.4(AASS):c.523C>T (p.His175Tyr)	AASS (H175Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343437	NM_005763.4(AASS):c.2056G>A (p.Val686Ile)	AASS (V686I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328736	NM_005763.4(AASS):c.518T>G (p.Leu173Trp)	AASS (L173W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324298	NM_005763.4(AASS):c.1934C>T (p.Pro645Leu)	AASS (P645L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276764	NM_005763.4(AASS):c.2459A>C (p.Lys820Thr)	AASS (K820T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276499	NM_005763.4(AASS):c.1706A>G (p.Asn569Ser)	AASS (N569S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2275613	NM_005763.4(AASS):c.2016G>C (p.Lys672Asn)	AASS (K672N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259161	NM_005763.4(AASS):c.2074T>C (p.Phe692Leu)	AASS (F692L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251861	NM_005763.4(AASS):c.2240C>T (p.Ala747Val)	AASS (A747V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228939	NM_005763.4(AASS):c.1864G>A (p.Val622Met)	AASS (V622M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227682	NM_005763.4(AASS):c.497T>A (p.Met166Lys)	AASS (M166K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221457	NM_005763.4(AASS):c.1909C>G (p.Pro637Ala)	AASS (P637A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212258	NM_005763.4(AASS):c.320C>A (p.Ala107Glu)	AASS (A107E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199699	NM_005763.4(AASS):c.1990T>C (p.Ser664Pro)	AASS (S664P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2176726	NM_005763.4(AASS):c.2055C>T (p.Ala685=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165545	NM_005763.4(AASS):c.1407-18_1407-7del	AASS	Deletion (intron variant)	not provided	GLikely benign
Select item 2165315	NM_005763.4(AASS):c.102C>G (p.Asn34Lys)	AASS (N34K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155329	NM_005763.4(AASS):c.1529-3T>C	AASS	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2116308	NM_005763.4(AASS):c.543C>T (p.His181=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095645	NM_005763.4(AASS):c.2384A>G (p.Glu795Gly)	AASS (E795G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088216	NM_005763.4(AASS):c.2221G>A (p.Gly741Ser)	AASS (G741S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086924	NM_005763.4(AASS):c.1938G>A (p.Leu646=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074646	NM_005763.4(AASS):c.1291G>A (p.Ala431Thr)	AASS (A431T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070939	NM_005763.4(AASS):c.1278+7A>G	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2061019	NM_005763.4(AASS):c.81C>T (p.Ala27=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059849	NM_005763.4(AASS):c.1473A>G (p.Ile491Met)	AASS (I491M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2049690	NM_005763.4(AASS):c.473-7G>T	AASS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2043984	NM_005763.4(AASS):c.2276C>G (p.Thr759Ser)	AASS (T759S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2043648	NM_005763.4(AASS):c.613A>T (p.Ile205Leu)	AASS (I205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017731	NM_005763.4(AASS):c.2594A>G (p.Asn865Ser)	AASS (N865S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2012212	NM_005763.4(AASS):c.709G>A (p.Glu237Lys)	AASS (E237K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006665	NM_005763.4(AASS):c.459G>C (p.Trp153Cys)	AASS (W153C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990892	NM_005763.4(AASS):c.380T>C (p.Leu127Pro)	AASS (L127P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990692	NM_005763.4(AASS):c.2397-16C>T	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950187	NM_005763.4(AASS):c.709G>T (p.Glu237Ter)	AASS (E237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1942367	NM_005763.4(AASS):c.540+14A>G	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939461	NM_005763.4(AASS):c.1876-18T>C	AASS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935949	NM_005763.4(AASS):c.1288G>A (p.Asp430Asn)	AASS (D430N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934278	NM_005763.4(AASS):c.608A>G (p.Tyr203Cys)	AASS (Y203C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930600	NM_005763.4(AASS):c.71C>T (p.Ala24Val)	AASS (A24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927600	NM_005763.4(AASS):c.436C>T (p.Arg146Trp)	AASS (R146W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915286	NM_005763.4(AASS):c.1421C>T (p.Ser474Leu)	AASS (S474L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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