ClinVar for MedGen (Select 766268) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500794	NM_014317.5(PDSS1):c.173_174insA (p.Ile58_Asn59insTer)	PDSS1	Insertion (frameshift variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GLikely pathogenic
Select item 2499454	NM_014317.5(PDSS1):c.716T>G (p.Val239Gly)	PDSS1 (V239G +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GPathogenic
Select item 2499453	NM_014317.5(PDSS1):c.735G>T (p.Gln245His)	PDSS1 (Q245H +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GPathogenic
Select item 2499451	NM_014317.5(PDSS1):c.661C>T (p.Arg221Ter)	PDSS1 (R51*)	Single nucleotide variant (nonsense)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GPathogenic
Select item 1902826	NM_014317.5(PDSS1):c.1183C>T (p.Arg395Ter)	PDSS1 (R395* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1658894	NM_014317.5(PDSS1):c.227+10C>T	PDSS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1639952	NM_014317.5(PDSS1):c.130-18T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GLikely benign
Select item 1586998	NM_014317.5(PDSS1):c.987C>T (p.Leu329=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1582985	NM_014317.5(PDSS1):c.1032A>G (p.Pro344=)	PDSS1 (R281G)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1518063	NM_014317.5(PDSS1):c.719G>A (p.Arg240His)	PDSS1 (R240H +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GUncertain significance
Select item 1508518	NM_014317.5(PDSS1):c.590A>G (p.Lys197Arg)	PDSS1 (K27R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1450914	NM_014317.5(PDSS1):c.955A>G (p.Met319Val)	PDSS1 (M149V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1450186	NM_014317.5(PDSS1):c.1162A>G (p.Ile388Val)	PDSS1 (I218V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1433998	NM_014317.5(PDSS1):c.270A>T (p.Glu90Asp)	PDSS1 (E90D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1386401	NM_014317.5(PDSS1):c.296G>T (p.Gly99Val)	PDSS1 (G99V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1364494	NM_014317.5(PDSS1):c.70G>C (p.Gly24Arg)	PDSS1 (G24R)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +2 more	GUncertain significance
Select item 1291370	NM_014317.5(PDSS1):c.609+46A>G	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign
Select item 1291369	NM_014317.5(PDSS1):c.467+42G>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign
Select item 1258603	NM_014317.5(PDSS1):c.130-46T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign
Select item 1257488	NM_014317.5(PDSS1):c.336+22G>A	PDSS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1236657	NM_014317.5(PDSS1):c.130-23del	PDSS1	Deletion (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign
Select item 1208457	NM_014317.5(PDSS1):c.988G>A (p.Gly330Arg)	PDSS1 (G160R +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GUncertain significance
Select item 1185598	NM_014317.5(PDSS1):c.802G>A (p.Ala268Thr)	PDSS1 (A268T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033284	NM_014317.5(PDSS1):c.94T>A (p.Leu32Met)	PDSS1 (L32M)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 1033282	NM_014317.5(PDSS1):c.1164_1165del (p.Ile388fs)	PDSS1 (I218fs +1 more)	Deletion (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GPathogenic
Select item 879951	NM_001012750.3(ABI1):c.*1950T>C	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 879950	NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile)	PDSS1 (V367I +2 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GUncertain significance
Select item 879598	NM_014317.5(PDSS1):c.999T>C (p.Thr333=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879597	NM_014317.5(PDSS1):c.859G>A (p.Val287Met)	PDSS1 (V287M +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GUncertain significance
Select item 879596	NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln)	PDSS1 (E82Q +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GUncertain significance
Select item 879595	NM_014317.5(PDSS1):c.686C>T (p.Ser229Phe)	PDSS1 (S59F +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 879594	NM_014317.5(PDSS1):c.592A>G (p.Ile198Val)	PDSS1 (I198V +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 878128	NM_014317.5(PDSS1):c.488G>A (p.Arg163His)	PDSS1 (R163H)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GUncertain significance
Select item 773795	NM_014317.5(PDSS1):c.279C>T (p.Thr93=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632134	NM_014317.5(PDSS1):c.215_221del (p.Cys72fs)	PDSS1 (C72fs)	Deletion (frameshift variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 518064	NM_014317.5(PDSS1):c.411A>G (p.Arg137=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	PDSS1-related condition +2 more	GBenign/Likely benign
Select item 516464	NM_014317.5(PDSS1):c.1027-11T>C	PDSS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 509560	NM_014317.5(PDSS1):c.467+9T>G	PDSS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 376967	NM_014317.5(PDSS1):c.553G>A (p.Asp185Asn)	PDSS1 (D185N +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GUncertain significance
Select item 375348	NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg)	PDSS1 (S370R +2 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GPathogenic
Select item 375347	NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs)	PDSS1 (R51fs +1 more)	Insertion (frameshift variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	Gnot provided
Select item 299708	NM_001012750.3(ABI1):c.*1833T>A	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GLikely benign
Select item 299707	NM_001012750.3(ABI1):c.*1835A>G	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299706	NM_001012750.3(ABI1):c.*1940A>C	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 299704	NM_014317.5(PDSS1):c.*76C>T	PDSS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 299703	NM_014317.5(PDSS1):c.*47A>G	PDSS1	Single nucleotide variant (3 prime UTR variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299702	NM_014317.5(PDSS1):c.*40T>C	PDSS1	Single nucleotide variant (3 prime UTR variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299700	NM_014317.5(PDSS1):c.941C>T (p.Ser314Leu)	PDSS1 (S314L +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +2 more	GUncertain significance
Select item 299699	NM_014317.5(PDSS1):c.860T>C (p.Val287Ala)	PDSS1 (V287A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 299698	NM_014317.5(PDSS1):c.426G>A (p.Ala142=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 299697	NM_014317.5(PDSS1):c.243C>T (p.Thr81=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 299696	NM_014317.5(PDSS1):c.163-12T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 299695	NM_014317.5(PDSS1):c.130-10G>T	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 299694	NM_014317.5(PDSS1):c.129+7T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299693	NM_014317.5(PDSS1):c.97G>A (p.Gly33Arg)	PDSS1 (G33R)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299692	NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu)	PDSS1 (R28L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 299691	NM_014317.5(PDSS1):c.51G>A (p.Ala17=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 214986	NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys)	PDSS1 (S229C +1 more)	Single nucleotide variant (missense variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 214982	NM_014317.5(PDSS1):c.163-5del	PDSS1	Deletion (intron variant)	Coenzyme Q10 deficiency +3 more	GBenign/Likely benign
Select item 214978	NM_014317.5(PDSS1):c.*3A>G	PDSS1	Single nucleotide variant (3 prime UTR variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign/Likely benign
Select item 214977	NM_014317.5(PDSS1):c.1108-7C>G	PDSS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138687	NM_014317.5(PDSS1):c.89G>T (p.Gly30Val)	PDSS1 (G30V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 138685	NM_014317.5(PDSS1):c.162+13A>G	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +2 more	GBenign
Select item 138683	NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)	PDSS1 (K197E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 138681	NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys)	PDSS1 (F136C)	Single nucleotide variant (missense variant +1 more)	PDSS1-related condition +3 more	GBenign
Select item 3237	NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu)	PDSS1 (D308E +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GPathogenic

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Items: 66