ClinVar for Gene (Select 51003) - ClinVar

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

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294074	NM_016060.3(MED31):c.19A>C (p.Met7Leu)	MED31 (M7L)	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 3243183	NC_000017.10:g.(?_6526182)_(6599280_?)del	C17orf100, KIAA0753 +3 more	Deletion	not provided	GPathogenic
Select item 3125077	NM_016060.3(MED31):c.340C>T (p.Arg114Cys)	MED31, TXNDC17 (R114C)	Single nucleotide variant (missense 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 2587947	NM_016060.3(MED31):c.20T>A (p.Met7Lys)	MED31 (M7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2460975	NM_016060.3(MED31):c.221A>G (p.His74Arg)	MED31 (H74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	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 2326247	NM_016060.3(MED31):c.281C>T (p.Ala94Val)	MED31 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265031	NM_016060.3(MED31):c.113C>T (p.Ala38Val)	MED31 (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340174	GRCh37/hg19 17p13.2-13.1(chr17:6248108-6637236)x1	AIPL1, C17orf100 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 686933	GRCh37/hg19 17p13.2-13.1(chr17:6246288-6558011)x3	AIPL1, C17orf100 +5 more	Copy number gain	not provided	GUncertain significance
Select item 583807	NC_000017.10:g.(?_6328760)_(6616672_?)del	AIPL1, C17orf100 +6 more	Deletion	Developmental and epileptic encephalopathy, 25 +1 more	GPathogenic
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 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 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 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 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 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 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	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

Links from Gene

Items: 30