ClinVar for Gene (Select 2874) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2569665	NM_004489.5(GPS2):c.885G>A (p.Met295Ile)	GPS2 (M295I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527884	NM_004489.5(GPS2):c.866C>A (p.Pro289His)	GPS2 (P289H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2329353	NM_004489.5(GPS2):c.377C>A (p.Thr126Asn)	GPS2 (T126N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309891	NM_004489.5(GPS2):c.892G>C (p.Ala298Pro)	GPS2 (A298P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285257	NM_004489.5(GPS2):c.688T>C (p.Tyr230His)	GPS2 (Y230H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273565	NM_004489.5(GPS2):c.28C>A (p.Leu10Ile)	GPS2, LOC130060131 (L10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240198	NM_004489.5(GPS2):c.457A>G (p.Met153Val)	GPS2 (M153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218004	NM_004489.5(GPS2):c.382C>T (p.Leu128Phe)	GPS2 (L128F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +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 786645	NM_004489.5(GPS2):c.95-4C>T	GPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768828	NM_004489.5(GPS2):c.318-6C>T	GPS2	Single nucleotide variant (intron variant)	not provided	GBenign
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 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	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +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 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41