ClinVar for MedGen (Select 462271) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067139	NM_021937.5(EEFSEC):c.1751_1752dup (p.Val585fs)	EEFSEC (V585fs)	Duplication (frameshift variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GLikely pathogenic
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 2503794	NM_004268.5(MED17):c.604A>T (p.Lys202Ter)	MED17 (K202*)	Single nucleotide variant (nonsense)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GLikely pathogenic
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 1711868	NM_004268.5(MED17):c.890C>G (p.Ala297Gly)	MED17 (A297G)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 1594611	NM_004268.5(MED17):c.1328+16G>A	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1333912	NM_004268.5(MED17):c.758G>C (p.Gly253Ala)	MED17 (G253A)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 1285434	NM_004268.5(MED17):c.490G>A (p.Ala164Thr)	MED17 (A164T)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 1180562	NM_004268.5(MED17):c.417+72C>T	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1070526	NM_004268.5(MED17):c.1360C>T (p.Arg454Ter)	MED17 (R454*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1069389	NM_004268.5(MED17):c.565C>T (p.Arg189Ter)	MED17 (R189*)	Single nucleotide variant (nonsense)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GPathogenic/Likely pathogenic
Select item 1029810	NM_004268.5(MED17):c.302A>G (p.Asn101Ser)	MED17 (N101S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029809	NM_004268.5(MED17):c.1298A>T (p.Lys433Ile)	MED17 (K433I)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
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 990619	NM_004268.5(MED17):c.1405G>T (p.Asp469Tyr)	MED17 (D469Y)	Single nucleotide variant (missense variant)	MED17-related condition +1 more	GLikely benign
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 990616	NM_004268.5(MED17):c.1223C>G (p.Ser408Trp)	MED17 (S408W)	Single nucleotide variant (missense 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 990614	NM_004268.5(MED17):c.891G>A (p.Ala297=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 990612	NM_004268.5(MED17):c.761C>G (p.Ser254Cys)	MED17 (S254C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 990610	NM_004268.5(MED17):c.354T>C (p.Ile118=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990609	NM_004268.5(MED17):c.325A>C (p.Met109Leu)	MED17 (M109L)	Single nucleotide variant (missense variant)	not provided +2 more	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)	MED17-related condition	GLikely benign
Select item 978880	NM_004268.5(MED17):c.1927A>G (p.Met643Val)	MED17 (M643V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 862218	NM_004268.5(MED17):c.1299_1302del (p.Ala435fs)	MED17 (A435fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 795438	NM_004268.5(MED17):c.1868A>G (p.Lys623Arg)	MED17 (K623R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 771893	NM_004268.5(MED17):c.1011G>A (p.Pro337=)	MED17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 765559	NM_004268.5(MED17):c.447A>G (p.Lys149=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764443	NM_004268.5(MED17):c.1554G>A (p.Glu518=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764174	NM_004268.5(MED17):c.1132C>T (p.Leu378=)	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 763401	NM_004268.5(MED17):c.429G>A (p.Thr143=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	MED17-related condition +1 more	GLikely benign
Select item 731836	NM_004268.5(MED17):c.203A>C (p.Gln68Pro)	LOC130006596, MED17 (Q68P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	MED17-related condition +2 more	GBenign/Likely benign
Select item 663716	NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)	MED17 (Q533*)	Single nucleotide variant (nonsense)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 522706	NM_004268.5(MED17):c.1898G>A (p.Arg633Gln)	MED17 (R633Q)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 518308	NM_004268.5(MED17):c.1329-11G>A	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518245	NM_004268.5(MED17):c.859+18T>C	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 211483	NM_004268.5(MED17):c.690C>T (p.Leu230=)	MED17	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 211481	NM_004268.5(MED17):c.1500G>A (p.Glu500=)	MED17	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 211480	NM_004268.5(MED17):c.1449C>G (p.Gly483=)	MED17	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129606	NM_004268.5(MED17):c.978G>C (p.Val326=)	MED17	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129605	NM_004268.5(MED17):c.571C>T (p.Arg191Trp)	MED17 (R191W)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GLikely pathogenic
Select item 129604	NM_004268.5(MED17):c.516C>T (p.Thr172=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129603	NM_004268.5(MED17):c.342T>C (p.Asp114=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129602	NM_004268.5(MED17):c.251-8C>T	MED17	Single nucleotide variant (intron variant)	MED17-related condition +2 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 129600	NM_004268.5(MED17):c.195C>G (p.Gly65=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 129599	NM_004268.5(MED17):c.1548T>C (p.Tyr516=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129598	NM_004268.5(MED17):c.1260A>G (p.Ser420=)	MED17	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129597	NM_004268.5(MED17):c.1092G>A (p.Pro364=)	MED17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129596	NM_004268.5(MED17):c.1071T>A (p.Phe357Leu)	MED17 (F357L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 129595	NM_004268.5(MED17):c.1482A>G (p.Gln494=)	MED17	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 18441	NM_004268.5(MED17):c.1112T>C (p.Leu371Pro)	MED17 (L371P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 68