ClinVar for MedGen (Select 481641) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627792	NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)	PRDM5 (R315* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2585362	NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)	PRDM5 (S15F)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2	GUncertain significance
Select item 2501236	NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)	PRDM5 (Q220*)	Single nucleotide variant (nonsense +1 more)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 2178471	NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)	PRDM5 (C300R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1760857	NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)	PRDM5 (R230S +1 more)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2 +1 more	GUncertain significance
Select item 1760181	NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)	PRDM5 (R257W +1 more)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2 +1 more	GUncertain significance
Select item 1710895	NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)	PRDM5 (R474fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1704586	NM_018699.4(PRDM5):c.475+2T>C	PRDM5	Single nucleotide variant (splice donor variant)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 1683364	NM_018699.4(PRDM5):c.1785_1786del (p.His595fs)	PRDM5 (H529fs +3 more)	Deletion (frameshift variant +1 more)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 1677171	NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)	PRDM5 (C519* +3 more)	Single nucleotide variant (nonsense +2 more)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 1359408	NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)	PRDM5 (S247L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1339868	NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg)	PRDM5 (P372R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1297218	NM_018699.4(PRDM5):c.744-38C>T	PRDM5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 981044	NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)	PRDM5 (R83C)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 981043	NM_018699.4(PRDM5):c.1858del (p.His620fs)	PRDM5 (H554fs +3 more)	Deletion (frameshift variant +1 more)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 981042	NM_018699.4(PRDM5):c.17T>G (p.Val6Gly)	PRDM5 (V6G)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 931721	NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)	PRDM5 (D438N +2 more)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2	GUncertain significance
Select item 902559	NM_018699.4(PRDM5):c.1538-5T>G	PRDM5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900905	NM_018699.4(PRDM5):c.475+9T>A	PRDM5	Single nucleotide variant (intron variant)	Brittle cornea syndrome 2	GUncertain significance
Select item 900904	NM_018699.4(PRDM5):c.650+7A>G	PRDM5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 809674	NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)	PRDM5 (K280R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 512186	NM_018699.4(PRDM5):c.1031-15T>C	PRDM5 (L350P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 507016	NM_018699.4(PRDM5):c.1282+9C>T	PRDM5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 449806	NM_018699.4(PRDM5):c.248G>A (p.Arg83His)	PRDM5 (R83H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 420960	NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)	PRDM5 (K224*)	Single nucleotide variant (nonsense +1 more)	Brittle cornea syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 392165	NM_018699.4(PRDM5):c.300+17C>T	PRDM5	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 347455	NM_018699.4(PRDM5):c.94-10T>G	PRDM5	Single nucleotide variant (intron variant)	Brittle cornea syndrome 2	GUncertain significance
Select item 347447	NM_018699.4(PRDM5):c.650+5G>A	PRDM5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 347446	NM_018699.4(PRDM5):c.650+7A>T	PRDM5	Single nucleotide variant (intron variant)	Brittle cornea syndrome 2	GUncertain significance
Select item 347443	NM_018699.4(PRDM5):c.743+14G>A	PRDM5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 347441	NM_018699.4(PRDM5):c.946-9C>T	PRDM5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347438	NM_018699.4(PRDM5):c.1189-14T>C	PRDM5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347436	NM_018699.4(PRDM5):c.1283-5C>T	PRDM5	Single nucleotide variant (intron variant)	Brittle cornea syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 347433	NM_018699.4(PRDM5):c.1623+8T>C	PRDM5	Single nucleotide variant (intron variant)	Brittle cornea syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 195343	NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg)	PRDM5 (G36R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 31115	NM_018699.4(PRDM5):c.93+2T>C	PRDM5	Single nucleotide variant (splice donor variant)	Brittle cornea syndrome 2	GPathogenic
Select item 31114	NM_018699.4(PRDM5):c.974del (p.Cys325fs)	PRDM5 (C294fs +1 more)	Deletion (frameshift variant)	Brittle cornea syndrome 2 +2 more	GPathogenic
Select item 31113	NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)	PRDM5 (Y107C)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2	GPathogenic
Select item 31112	NM_018699.4(PRDM5):c.93+1G>A	PRDM5	Single nucleotide variant (splice donor variant)	Brittle cornea syndrome 2	GPathogenic
Select item 31111	NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)	PRDM5 (R590* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 31110	NM_018699.3(PRDM5):c.946_1623del	PRDM5	Deletion	Brittle cornea syndrome 2	GPathogenic

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Items: 41