MED17[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +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 1262527	NC_000011.10:g.93783896A>G	MED17	Single nucleotide variant	not provided	GBenign
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)	MED17-related disorder	GLikely benign
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=)	MED17, LOC112136095	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=)	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 1081632	NM_004268.5(MED17):c.24G>A (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 3021427	NM_004268.5(MED17):c.45C>T (p.Cys15=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818918	NM_004268.5(MED17):c.46G>T (p.Glu16Ter)	MED17 (E16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2754303	NM_004268.5(MED17):c.54G>A (p.Gln18=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590825	NM_004268.5(MED17):c.57C>T (p.Val19=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547377	NM_004268.5(MED17):c.60T>C (p.His20=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590608	NM_004268.5(MED17):c.69C>A (p.Gly23=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908161	NM_004268.5(MED17):c.70C>T (p.Leu24=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1118602	NM_004268.5(MED17):c.87G>T (p.Thr29=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698394	NM_004268.5(MED17):c.90C>T (p.Tyr30=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099720	NM_004268.5(MED17):c.91C>T (p.Leu31=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 422880	NM_004268.5(MED17):c.98dup (p.Leu34fs)	MED17 (L34fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1150263	NM_004268.5(MED17):c.96C>T (p.Pro32=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1097435	NM_004268.5(MED17):c.96C>G (p.Pro32=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447223	NM_004268.5(MED17):c.98C>T (p.Pro33Leu)	MED17 (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966019	NM_004268.5(MED17):c.99G>C (p.Pro33=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530380	NM_004268.5(MED17):c.99G>T (p.Pro33=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136342	NM_004268.5(MED17):c.99G>A (p.Pro33=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958641	NM_004268.5(MED17):c.102G>C (p.Leu34=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147011	NM_004268.5(MED17):c.102G>A (p.Leu34=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989789	NM_004268.5(MED17):c.104C>T (p.Ser35Phe)	MED17 (S35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150646	NM_004268.5(MED17):c.111G>C (p.Ser37=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973358	NM_004268.5(MED17):c.121G>A (p.Ala41Thr)	MED17 (A41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552381	NM_004268.5(MED17):c.123G>A (p.Ala41=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185210	NM_004268.5(MED17):c.124C>T (p.Arg42Cys)	MED17 (R42C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014562	NM_004268.5(MED17):c.126T>C (p.Arg42=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530000	NM_004268.5(MED17):c.132C>T (p.Ala44=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624244	NM_004268.5(MED17):c.136C>A (p.Arg46=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788562	NM_004268.5(MED17):c.138G>C (p.Arg46=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513238	NM_004268.5(MED17):c.142G>C (p.Asp48His)	MED17 (D48H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554134	NM_004268.5(MED17):c.150C>T (p.Ser50=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132708	NM_004268.5(MED17):c.156T>C (p.Gly52=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355674	NM_004268.5(MED17):c.159_162del (p.Gly54fs)	MED17 (G54fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1088483	NM_004268.5(MED17):c.165C>T (p.Ser55=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131080	NM_004268.5(MED17):c.172G>T (p.Glu58Ter)	MED17 (E58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1487260	NM_004268.5(MED17):c.180G>A (p.Ala60=)	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 1537147	NM_004268.5(MED17):c.189C>T (p.Thr63=)	LOC130006596, 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 1146147	NM_004268.5(MED17):c.195C>A (p.Gly65=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 129600	NM_004268.5(MED17):c.195C>G (p.Gly65=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 1352719	NM_004268.5(MED17):c.200C>G (p.Ala67Gly)	LOC130006596, MED17 (A67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743057	NM_004268.5(MED17):c.201G>T (p.Ala67=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	MED17-related disorder +1 more	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 129601	NM_004268.5(MED17):c.207G>C (p.Glu69Asp)	LOC130006596, MED17 (E69D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2024513	NM_004268.5(MED17):c.210del (p.Trp70fs)	LOC130006596, MED17 (W70fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2728744	NM_004268.5(MED17):c.213G>A (p.Pro71=)	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 2821704	NM_004268.5(MED17):c.219C>G (p.Ala73=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 724157	NM_004268.5(MED17):c.224C>G (p.Ser75Cys)	LOC130006596, MED17 (S75C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 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 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 1456927	NM_004268.5(MED17):c.235C>T (p.Gln79Ter)	LOC130006596, MED17 (Q79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2139676	NM_004268.5(MED17):c.241G>A (p.Asp81Asn)	LOC130006596, MED17 (D81N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1578674	NM_004268.5(MED17):c.246G>A (p.Glu82=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2840947	NM_004268.5(MED17):c.250+1G>A	LOC130006596, MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2844947	NM_004268.5(MED17):c.250+7C>G	LOC130006596, MED17	Single nucleotide variant (intron 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 1612357	NM_004268.5(MED17):c.250+9dup	LOC130006596, MED17	Duplication (intron 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 2846346	NM_004268.5(MED17):c.250+10G>A	LOC130006596, MED17	Single nucleotide variant (intron 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 2961519	NM_004268.5(MED17):c.250+16G>A	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign

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