"PreventionGenetics, part of Exact Sciences"[submitter] AND "MED17"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 129602	NM_004268.5(MED17):c.251-8C>T	MED17	Single nucleotide variant (intron variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +2 more	GBenign/Likely benign
Select item 211483	NM_004268.5(MED17):c.690C>T (p.Leu230=)	MED17	Single nucleotide variant (synonymous variant)	MED17-related disorder +2 more	GConflicting classifications of pathogenicity
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 990619	NM_004268.5(MED17):c.1405G>T (p.Asp469Tyr)	MED17 (D469Y)	Single nucleotide variant (missense variant)	MED17-related disorder +1 more	GLikely benign
Select item 211481	NM_004268.5(MED17):c.1500G>A (p.Glu500=)	MED17	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 766010	NM_004268.5(MED17):c.1748G>A (p.Arg583His)	MED17 (R583H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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