LOC112136095[gene] - ClinVar

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 1190886	NC_000011.10:g.93784108T>C	LOC112136095, MED17	Single nucleotide variant	not provided	GLikely benign
Select item 1271077	NC_000011.10:g.93784133A>G	LOC112136095, MED17	Single nucleotide variant	not provided	GBenign
Select item 1192122	NC_000011.10:g.93784149C>G	LOC112136095, MED17	Single nucleotide variant	not provided	GLikely benign
Select item 1285912	NC_000011.10:g.93784163A>G	LOC112136095, MED17	Single nucleotide variant	not provided	GBenign
Select item 1211367	NC_000011.10:g.93784261C>T	LOC112136095, MED17	Single nucleotide variant	not provided	GLikely benign
Select item 1244461	NM_004268.5(MED17):c.-216A>C	LOC112136095, MED17	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1194177	NM_004268.5(MED17):c.-169C>T	MED17, LOC112136095	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1199486	NM_004268.5(MED17):c.-25C>T	LOC112136095, MED17	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 989497	NM_004268.5(MED17):c.-10C>T	LOC112136095, MED17	Single nucleotide variant (5 prime UTR variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 645868	NC_000011.10:g.(?_93784504)_(93788177_?)del	LOC112136095, LOC130006596 +1 more	Deletion	not provided	GPathogenic
Select item 989498	NM_004268.5(MED17):c.-3A>G	LOC112136095, MED17	Single nucleotide variant (5 prime UTR variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 1445226	NM_004268.5(MED17):c.5C>G (p.Ser2Cys)	LOC112136095, MED17 (S2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624290	NM_004268.5(MED17):c.6C>T (p.Ser2=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989499	NM_004268.5(MED17):c.8G>T (p.Gly3Val)	LOC112136095, MED17 (G3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2102241	NM_004268.5(MED17):c.9G>C (p.Gly3=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655140	NM_004268.5(MED17):c.12G>A (p.Val4=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012424	NM_004268.5(MED17):c.15C>G (p.Arg5=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126947	NM_004268.5(MED17):c.21G>T (p.Val7=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594823	NM_004268.5(MED17):c.24G>C (p.Arg8=)	MED17, LOC112136095	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123052	NM_004268.5(MED17):c.24G>T (p.Arg8=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081632	NM_004268.5(MED17):c.24G>A (p.Arg8=)	MED17, LOC112136095	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095404	NM_004268.5(MED17):c.27C>T (p.Ile9=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021427	NM_004268.5(MED17):c.45C>T (p.Cys15=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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: 27