ClinVar for Gene (Select 440400) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3154869	NM_001004333.5(RNASEK):c.263G>A (p.Arg88Gln)	RNASEK, RNASEK-C17orf49 (R88Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 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 2530530	NM_001004333.5(RNASEK):c.139A>T (p.Thr47Ser)	RNASEK, RNASEK-C17orf49 (T47S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520954	NM_001004333.5(RNASEK):c.-41C>G	RNASEK, RNASEK-C17orf49	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520513	NM_001004333.4(RNASEK):c.53C>T (p.Ser18Phe)	RNASEK, RNASEK-C17orf49 (S18F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2489020	NM_001004333.5(RNASEK):c.286A>C (p.Met96Leu)	RNASEK, RNASEK-C17orf49 (M96L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 2411161	NM_001004333.5(RNASEK):c.-38G>T	RNASEK, RNASEK-C17orf49	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372922	NM_001004333.5(RNASEK):c.269A>G (p.Asn90Ser)	RNASEK, RNASEK-C17orf49 (N90S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2296097	NM_001004333.5(RNASEK):c.241G>A (p.Gly81Ser)	RNASEK, RNASEK-C17orf49 (G81S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2289015	NM_001004333.4(RNASEK):c.19G>A (p.Gly7Arg)	RNASEK, RNASEK-C17orf49 (G7R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267603	NM_001004333.5(RNASEK):c.-17C>T	RNASEK, RNASEK-C17orf49	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2259628	NM_001004333.5(RNASEK):c.108T>G (p.His36Gln)	RNASEK, RNASEK-C17orf49 (H36Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2251834	NM_001004333.5(RNASEK):c.287T>C (p.Met96Thr)	RNASEK, RNASEK-C17orf49 (M96T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
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 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
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
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 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	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 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	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 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
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 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 36