Related gene-specific medical variations for Gene (Select 9440) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360723	NM_004268.5(MED17):c.379C>T (p.Leu127Phe)	MED17 (L127F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3294045	NM_004268.5(MED17):c.176A>C (p.Glu59Ala)	LOC130006596, MED17 (E59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244758	NC_000011.9:g.(?_93529556)_(93540821_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3244757	NC_000011.9:g.(?_93526874)_(93535158_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3244756	NC_000011.9:g.(?_93517680)_(93530905_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3244755	NC_000011.9:g.(?_93530691)_(93530895_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3023554	NM_004268.5(MED17):c.250+20C>T	LOC130006596, MED17	Single nucleotide variant (intron 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
Select item 2961519	NM_004268.5(MED17):c.250+16G>A	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917687	NM_004268.5(MED17):c.250+2T>A	LOC130006596, MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2846346	NM_004268.5(MED17):c.250+10G>A	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844947	NM_004268.5(MED17):c.250+7C>G	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840947	NM_004268.5(MED17):c.250+1G>A	LOC130006596, MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2831911	NM_004268.5(MED17):c.228C>T (p.Ser76=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823638	NM_004268.5(MED17):c.250+11C>T	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821704	NM_004268.5(MED17):c.219C>G (p.Ala73=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815493	NM_004268.5(MED17):c.216C>A (p.Gly72=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728744	NM_004268.5(MED17):c.213G>A (p.Pro71=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702894	NM_004268.5(MED17):c.183G>A (p.Ala61=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689418	NM_004268.5(MED17):c.871T>C (p.Trp291Arg)	MED17 (W291R)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 2569317	NM_004268.5(MED17):c.236A>G (p.Gln79Arg)	LOC130006596, MED17 (Q79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486617	NM_004268.5(MED17):c.221G>C (p.Gly74Ala)	LOC130006596, MED17 (G74A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441702	NM_004268.5(MED17):c.1747C>T (p.Arg583Cys)	MED17 (R583C)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 2433723	NM_004268.5(MED17):c.730G>A (p.Asp244Asn)	MED17 (D244N)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 2274128	NM_004268.5(MED17):c.232G>T (p.Asp78Tyr)	LOC130006596, MED17 (D78Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226425	NM_004268.5(MED17):c.220G>A (p.Gly74Arg)	LOC130006596, MED17 (G74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2199683	NM_004268.5(MED17):c.177G>A (p.Glu59=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139676	NM_004268.5(MED17):c.241G>A (p.Asp81Asn)	LOC130006596, MED17 (D81N)	Single nucleotide variant (missense variant)	not provided	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 2024513	NM_004268.5(MED17):c.210del (p.Trp70fs)	LOC130006596, MED17 (W70fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2000108	NM_004268.5(MED17):c.192G>A (p.Glu64=)	LOC130006596, 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 1624290	NM_004268.5(MED17):c.6C>T (p.Ser2=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612357	NM_004268.5(MED17):c.250+9dup	LOC130006596, MED17	Duplication (intron variant)	not provided	GLikely benign
Select item 1608589	NM_004268.5(MED17):c.243C>T (p.Asp81=)	LOC130006596, 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 1578674	NM_004268.5(MED17):c.246G>A (p.Glu82=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537147	NM_004268.5(MED17):c.189C>T (p.Thr63=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487260	NM_004268.5(MED17):c.180G>A (p.Ala60=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456927	NM_004268.5(MED17):c.235C>T (p.Gln79Ter)	LOC130006596, MED17 (Q79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1374376	NM_004268.5(MED17):c.250G>C (p.Gly84Arg)	LOC130006596, MED17 (G84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352719	NM_004268.5(MED17):c.200C>G (p.Ala67Gly)	LOC130006596, MED17 (A67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244461	NM_004268.5(MED17):c.-216A>C	LOC112136095, MED17	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 1194177	NM_004268.5(MED17):c.-169C>T	MED17, LOC112136095	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1149549	NM_004268.5(MED17):c.198C>T (p.Asp66=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146147	NM_004268.5(MED17):c.195C>A (p.Gly65=)	LOC130006596, 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 1123052	NM_004268.5(MED17):c.24G>T (p.Arg8=)	LOC112136095, MED17	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 1090536	NM_004268.5(MED17):c.250+8C>T	LOC130006596, MED17	Single nucleotide variant (intron 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 990623	NM_004268.5(MED17):c.1850A>G (p.His617Arg)	MED17 (H617R)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990622	NM_004268.5(MED17):c.1756C>T (p.Pro586Ser)	MED17 (P586S)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990621	NM_004268.5(MED17):c.1744+3del	MED17	Deletion (intron variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990620	NM_004268.5(MED17):c.1447G>A (p.Gly483Ser)	MED17 (G483S)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990618	NM_004268.5(MED17):c.1380A>G (p.Ile460Met)	MED17 (I460M)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990617	NM_004268.5(MED17):c.1282C>T (p.Leu428=)	MED17	Single nucleotide variant (synonymous variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990615	NM_004268.5(MED17):c.1099C>G (p.His367Asp)	MED17 (H367D)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990613	NM_004268.5(MED17):c.859+5G>A	MED17	Single nucleotide variant (intron variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990611	NM_004268.5(MED17):c.566G>A (p.Arg189Gln)	MED17 (R189Q)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990608	NM_004268.5(MED17):c.233A>G (p.Asp78Gly)	LOC130006596, MED17 (D78G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 990607	NM_004268.5(MED17):c.212C>T (p.Pro71Leu)	LOC130006596, MED17 (P71L)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
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 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 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 932111	NM_004268.5(MED17):c.1433T>G (p.Leu478Ter)	MED17 (L478*)	Single nucleotide variant (nonsense)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GLikely pathogenic
Select item 763856	NM_004268.5(MED17):c.219C>T (p.Ala73=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755365	NM_004268.5(MED17):c.250+7C>T	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743057	NM_004268.5(MED17):c.201G>T (p.Ala67=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731836	NM_004268.5(MED17):c.203A>C (p.Gln68Pro)	LOC130006596, MED17 (Q68P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 724157	NM_004268.5(MED17):c.224C>G (p.Ser75Cys)	LOC130006596, MED17 (S75C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 129601	NM_004268.5(MED17):c.207G>C (p.Glu69Asp)	LOC130006596, MED17 (E69D)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +2 more	GBenign
Select item 129600	NM_004268.5(MED17):c.195C>G (p.Gly65=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +2 more	GBenign

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Items: 76