ClinVar for MedGen (Select 82816) - ClinVar

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Items: 24

	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 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	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)	Hyperlysinemia +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 +2 more	GBenign/Likely 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

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Items: 24