17948[HGNC] - ClinVar

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

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 3191418	NM_015982.4(YBX2):c.1075A>G (p.Thr359Ala)	YBX2 (T359A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530467	NM_015982.4(YBX2):c.985C>T (p.Arg329Trp)	YBX2 (R329W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191424	NM_015982.4(YBX2):c.965G>A (p.Arg322His)	YBX2 (R322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570501	NM_015982.4(YBX2):c.964C>T (p.Arg322Cys)	YBX2 (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375990	NM_015982.4(YBX2):c.937C>T (p.Arg313Trp)	YBX2 (R313W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191423	NM_015982.4(YBX2):c.899G>A (p.Gly300Asp)	YBX2 (G300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279955	NM_015982.4(YBX2):c.818C>G (p.Pro273Arg)	YBX2 (P273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191422	NM_015982.4(YBX2):c.665G>A (p.Arg222Gln)	YBX2 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191421	NM_015982.4(YBX2):c.655C>T (p.Arg219Trp)	YBX2 (R219W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477655	NM_015982.4(YBX2):c.632A>G (p.Glu211Gly)	YBX2 (E211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466707	NM_015982.4(YBX2):c.583A>G (p.Met195Val)	YBX2 (M195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191420	NM_015982.4(YBX2):c.407G>C (p.Arg136Pro)	YBX2 (R136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488888	NM_015982.4(YBX2):c.169A>T (p.Thr57Ser)	YBX2 (T57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365926	NM_015982.4(YBX2):c.167G>A (p.Gly56Glu)	YBX2 (G56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276057	NM_015982.4(YBX2):c.154G>A (p.Gly52Ser)	YBX2 (G52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395545	NM_015982.4(YBX2):c.151T>G (p.Ser51Ala)	YBX2 (S51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210647	NM_015982.4(YBX2):c.117A>C (p.Lys39Asn)	YBX2 (K39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290676	NM_015982.4(YBX2):c.23C>T (p.Ala8Val)	YBX2 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243103	NC_000017.10:g.(?_7123304)_(7360042_?)del	ACADVL, ACAP1 +23 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3242525	Single allele	PHF23, YBX2 +13 more	Deletion	Faundes-Banka syndrome	GPathogenic
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809052	GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3	ACADVL, ASGR1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 980124	GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1	GPS2, NEURL4 +16 more	Copy number loss	not provided	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815900	GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1	ACADVL, ACAP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 689270	GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3	ACADVL, ACAP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 562231	Single allele	ACADVL, ACAP1 +25 more	Duplication	Bilateral conductive hearing impairment +3 more	GLikely pathogenic
Select item 560047	Single allele	ACAP1, EIF5A +4 more	Duplication	not provided	GUncertain significance
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442228	GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1	ACADVL, ACAP1 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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: 53