ClinVar for MedGen (Select 82816) - ClinVar

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

Links from MedGen

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2957962	NM_005763.4(AASS):c.1345A>C (p.Ile449Leu)	AASS (I449L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2682543	NC_000007.13:g.(121733213_121738503)_(121784304_?)del	AASS	Deletion	Hyperlysinemia	GPathogenic
Select item 2438707	NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)	AASS (Y578C)	Single nucleotide variant (missense variant)	Hyperlysinemia	GUncertain significance
Select item 1878391	NC_000007.13:g.(121733213_121738503)_(121773796_121784214)del	AASS	Deletion	Hyperlysinemia	GLikely pathogenic
Select item 1516672	NM_005763.4(AASS):c.2317T>A (p.Ser773Thr)	AASS (S773T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334629	NM_005763.4(AASS):c.2196dup (p.Ala733fs)	AASS (A733fs)	Duplication (frameshift variant)	Hyperlysinemia	GLikely pathogenic
Select item 1322091	NM_005763.4(AASS):c.2100T>G (p.Tyr700Ter)	AASS (Y700*)	Single nucleotide variant (nonsense)	Hyperlysinemia	GPathogenic
Select item 1220244	NM_005763.4(AASS):c.2339A>C (p.Lys780Thr)	AASS (K780T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098670	NM_005763.4(AASS):c.1393C>G (p.Leu465Val)	AASS (L465V)	Single nucleotide variant (missense variant)	Hyperlysinemia	GUncertain significance
Select item 1048522	NM_005763.4(AASS):c.395G>A (p.Arg132His)	AASS (R132H)	Single nucleotide variant (missense variant)	Hyperlysinemia +1 more	GLikely pathogenic
Select item 1048521	NM_005763.4(AASS):c.3G>A (p.Met1Ile)	AASS (M1I)	Single nucleotide variant (missense variant +1 more)	Hyperlysinemia	GLikely pathogenic
Select item 1030964	NM_005763.4(AASS):c.1767-1G>A	AASS	Single nucleotide variant (splice acceptor variant)	Hyperlysinemia	GPathogenic/Likely pathogenic
Select item 973464	NM_005763.4(AASS):c.1876A>G (p.Ile626Val)	AASS (I626V)	Single nucleotide variant (missense variant)	Saccharopinuria +1 more	GUncertain significance
Select item 973452	NM_005763.4(AASS):c.1048G>A (p.Val350Met)	AASS (V350M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 377290	NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)	AASS (P560S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 252652	NM_005763.4(AASS):c.2762A>G (p.Gln921Arg)	AASS (Q921R)	Single nucleotide variant (missense variant)	Hyperlysinemia +3 more	GUncertain significance
Select item 100647	NM_005763.4(AASS):c.1256T>G (p.Leu419Arg)	AASS (L419R)	Single nucleotide variant (missense variant)	Hyperlysinemia	GPathogenic
Select item 100646	NM_005763.4(AASS):c.194G>A (p.Arg65Gln)	AASS (R65Q)	Single nucleotide variant (missense variant)	Hyperlysinemia	GPathogenic
Select item 100645	NM_005763.4(AASS):c.1925C>G (p.Ser642Ter)	AASS (S642*)	Single nucleotide variant (nonsense)	Hyperlysinemia	GPathogenic
Select item 100644	NM_005763.4(AASS):c.976_977del (p.Gln326fs)	AASS (Q326fs)	Deletion (frameshift variant)	Hyperlysinemia	GPathogenic
Select item 100643	NM_005763.4(AASS):c.874A>G (p.Ile292Val)	AASS (I292V)	Single nucleotide variant (missense variant)	Hyperlysinemia	GPathogenic
Select item 100642	NM_005763.4(AASS):c.2662+1_2662+5delinsTT	AASS	Indel (splice donor variant)	Hyperlysinemia	GPathogenic
Select item 5209	NM_005763.4(AASS):c.1601_1609del (p.Cys534_Glu537delinsTer)	AASS	Deletion (nonsense)	Hyperlysinemia	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 25