"GeneDx"[submitter] AND "AASS"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1312233	NM_005763.4(AASS):c.2711A>G (p.Tyr904Cys)	AASS (Y904C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389805	NM_005763.4(AASS):c.2537A>G (p.His846Arg)	AASS (H846R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2663547	NM_005763.4(AASS):c.2428C>T (p.Gln810Ter)	AASS (Q810*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1222873	NM_005763.4(AASS):c.2396+65G>A	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
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 1178869	NM_005763.4(AASS):c.2281-57C>T	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223158	NM_005763.4(AASS):c.2184+105T>C	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277478	NM_005763.4(AASS):c.1876-200T>A	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180164	NM_005763.4(AASS):c.1875+107dup	AASS	Duplication (intron variant)	not provided	GBenign
Select item 1248291	NM_005763.4(AASS):c.1875+118del	AASS	Deletion (intron variant)	not provided	GBenign
Select item 1287462	NM_005763.4(AASS):c.1407-30dup	AASS	Duplication (intron variant)	not provided	GBenign
Select item 1290765	NM_005763.4(AASS):c.1406+202C>G	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249712	NM_005763.4(AASS):c.1279-123T>G	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269536	NM_005763.4(AASS):c.1166+136G>T	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273910	NM_005763.4(AASS):c.1044-220dup	AASS	Duplication (intron variant)	not provided	GBenign
Select item 1283895	NM_005763.4(AASS):c.1043+171A>T	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276060	NM_005763.4(AASS):c.1043+170T>A	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312232	NM_005763.4(AASS):c.799C>T (p.Arg267Cys)	AASS (R267C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235581	NM_005763.4(AASS):c.688-15A>G	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280545	NM_005763.4(AASS):c.687+71C>G	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205318	NM_005763.4(AASS):c.499G>T (p.Gly167Cys)	AASS (G167C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303164	NM_005763.4(AASS):c.460G>A (p.Ala154Thr)	AASS (A154T)	Single nucleotide variant (missense variant)	not provided	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 1269260	NM_005763.4(AASS):c.388-125T>A	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306102	NM_005763.4(AASS):c.323T>C (p.Phe108Ser)	AASS (F108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389806	NM_005763.4(AASS):c.191G>A (p.Arg64Gln)	AASS (R64Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266521	NM_005763.4(AASS):c.-15-196C>T	AASS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145854	GRCh38/hg38 7q31.32(chr7:122137588-122158524)x1	AASS, LOC129999210 +1 more	Copy number loss	See cases	GLikely benign
Select item 1277696	NC_000007.14:g.122144387G>A	AASS	Single nucleotide variant	not provided	GBenign
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic

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Items: 31