"GeneDx"[submitter] AND "FAM120A"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 1180290	NC_000009.12:g.93451378G>T	FAM120A, FAM120AOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1241520	NC_000009.12:g.93451539C>T	FAM120A, FAM120AOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1239120	NM_014612.5(FAM120A):c.474+192A>G	FAM120A, FAM120AOS	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1178731	NM_014612.5(FAM120A):c.474+257G>A	FAM120A, FAM120AOS (L22F)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1278442	NM_014612.5(FAM120A):c.762C>T (p.His254=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1244777	NM_014612.5(FAM120A):c.804+111C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275524	NM_014612.5(FAM120A):c.805-171C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241147	NM_014612.5(FAM120A):c.933+13dup	FAM120A	Duplication (intron variant)	not provided	GBenign
Select item 1179903	NM_014612.5(FAM120A):c.1131+44G>C	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265266	NM_014612.5(FAM120A):c.1131+49C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236423	NM_014612.5(FAM120A):c.1131+50G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232779	NM_014612.5(FAM120A):c.1158C>T (p.Gly386=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242467	NM_014612.5(FAM120A):c.1341C>T (p.His447=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1263092	NM_014612.5(FAM120A):c.1418+24G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290270	NM_014612.5(FAM120A):c.1418+121T>C	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250350	NM_014612.5(FAM120A):c.1418+233T>G	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261852	NM_014612.5(FAM120A):c.1419-206G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284214	NM_014612.5(FAM120A):c.1419-168C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240451	NM_014612.5(FAM120A):c.1506+219C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248411	NM_014612.5(FAM120A):c.1734+163A>T	FAM120A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1280652	NM_014612.5(FAM120A):c.1734+304A>G	FAM120A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1258475	NM_014612.5(FAM120A):c.2159+229T>C	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253383	NM_014612.5(FAM120A):c.2160-278G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280653	NM_014612.5(FAM120A):c.2274+39C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227460	NM_014612.5(FAM120A):c.2484+270C>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281727	NM_014612.5(FAM120A):c.2669-155del	FAM120A	Deletion (intron variant)	not provided	GBenign
Select item 1242459	NM_014612.5(FAM120A):c.3046-169_3046-155del	FAM120A	Deletion (intron variant)	not provided	GBenign
Select item 1262418	NM_014612.5(FAM120A):c.3046-155G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258446	NM_014612.5(FAM120A):c.*296T>A	FAM120A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 33