"GeneDx"[submitter] AND "ANKFY1"[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 60101	GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3	ANKFY1, CYB5D2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1258132	NM_001330063.2(ANKFY1):c.3378-40G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229739	NM_001330063.2(ANKFY1):c.3378-97C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249625	NM_001330063.2(ANKFY1):c.3378-121G>C	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259674	NM_001330063.2(ANKFY1):c.3287-125C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285872	NM_001330063.2(ANKFY1):c.3287-179C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288285	NM_001330063.2(ANKFY1):c.3140-106T>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241236	NM_001330063.2(ANKFY1):c.3014+34G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280964	NM_001330063.2(ANKFY1):c.2923+207C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263683	NM_001330063.2(ANKFY1):c.2776-134C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257665	NM_001330063.2(ANKFY1):c.2598+177C>T	ANKFY1, LOC126862466	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278020	NM_001330063.2(ANKFY1):c.2241-48C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231433	NM_001330063.2(ANKFY1):c.2241-70A>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182333	NM_001330063.2(ANKFY1):c.2181G>A (p.Thr727=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1272924	NM_001330063.2(ANKFY1):c.2122-150G>C	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268860	NM_001330063.2(ANKFY1):c.2121+154C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266406	NM_001330063.2(ANKFY1):c.1953-190G>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240863	NM_001330063.2(ANKFY1):c.1699+199G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286402	NM_001330063.2(ANKFY1):c.1521G>A (p.Thr507=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1261445	NM_001330063.2(ANKFY1):c.1373-164C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276117	NM_001330063.2(ANKFY1):c.1373-194T>C	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237800	NM_001330063.2(ANKFY1):c.1173-110dup	ANKFY1	Duplication (intron variant)	not provided	GBenign
Select item 1181359	NM_001330063.2(ANKFY1):c.1103+77G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 60131	GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3	ANKFY1, GGT6 +20 more	Copy number gain	See cases	GUncertain significance
Select item 1239431	NM_001330063.2(ANKFY1):c.792C>T (p.Leu264=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1294597	NM_001330063.2(ANKFY1):c.582+197C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146057	GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3	ANKFY1, LOC121587571 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1264002	NM_001330063.2(ANKFY1):c.323-81C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261300	NM_001330063.2(ANKFY1):c.322+200A>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229659	NM_001330063.2(ANKFY1):c.322+199G>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244886	NM_001330063.2(ANKFY1):c.204-173T>C	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290860	NM_001330063.2(ANKFY1):c.203+167del	ANKFY1	Deletion (intron variant)	not provided	GBenign
Select item 1288016	NM_001330063.2(ANKFY1):c.11-31C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246561	NM_001330063.2(ANKFY1):c.11-75A>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231244	NM_001330063.2(ANKFY1):c.10+423G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238115	NC_000017.11:g.4264198C>T	ANKFY1	Single nucleotide variant	not provided	GBenign
Select item 1226113	NC_000017.11:g.4264210C>T	ANKFY1	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39