Related gene-specific medical variations for Gene (Select 126806316) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208994	NM_003466.4(PAX8):c.746A>C (p.Tyr249Ser)	LOC126806316, PAX8 +1 more (Y249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208993	NM_003466.4(PAX8):c.711G>C (p.Glu237Asp)	LOC126806316, PAX8 +1 more (E237D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208992	NM_003466.4(PAX8):c.609G>A (p.Gln203=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2629114	NM_003466.4(PAX8):c.530G>T (p.Gly177Val)	LOC126806316, PAX8 +1 more (G177V)	Single nucleotide variant (missense variant)	PAX8-related disorder	GUncertain significance
Select item 2606251	NM_003466.4(PAX8):c.530G>A (p.Gly177Asp)	LOC126806316, PAX8 +1 more (G177D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2571082	NM_003466.4(PAX8):c.632A>G (p.Asp211Gly)	LOC126806316, PAX8 +1 more (D211G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538862	NM_003466.4(PAX8):c.514C>G (p.Gln172Glu)	LOC126806316, PAX8 +1 more (Q172E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434584	NM_003466.4(PAX8):c.670C>T (p.Arg224Cys)	LOC126806316, PAX8 +1 more (R224C)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 2347563	NM_003466.4(PAX8):c.565G>A (p.Ala189Thr)	LOC126806316, PAX8 +1 more (A189T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295406	NM_003466.4(PAX8):c.620G>A (p.Arg207Gln)	LOC126806316, PAX8 +1 more (R207Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265442	NM_003466.4(PAX8):c.593T>C (p.Met198Thr)	LOC126806316, PAX8 +1 more (M198T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233164	NM_003466.4(PAX8):c.601+6T>A	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1878900	NM_003466.4(PAX8):c.673A>C (p.Thr225Pro)	LOC126806316, PAX8 +1 more (T225P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678443	NM_003466.4(PAX8):c.619C>T (p.Arg207Ter)	LOC126806316, PAX8 +1 more (R207*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1404869	NM_003466.4(PAX8):c.754C>G (p.Pro252Ala)	LOC126806316, PAX8 +1 more (P252A)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GUncertain significance
Select item 1328866	NM_003466.4(PAX8):c.601A>C (p.Ser201Arg)	LOC126806316, PAX8 +1 more (S201R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326506	NM_003466.4(PAX8):c.602-12G>A	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1295128	NM_003466.4(PAX8):c.777+105A>G	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288664	NM_003466.4(PAX8):c.601+51C>G	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209482	NM_003466.4(PAX8):c.701A>G (p.Glu234Gly)	LOC126806316, PAX8 +1 more (E234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049019	NM_003466.4(PAX8):c.580G>A (p.Asp194Asn)	LOC126806316, PAX8 +1 more (D194N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029705	NM_003466.4(PAX8):c.777G>C (p.Gln259His)	LOC126806316, PAX8 +1 more (Q259H)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 988652	NM_003466.4(PAX8):c.658C>T (p.Arg220Ter)	LOC126806316, PAX8 +1 more (R220*)	Single nucleotide variant (nonsense)	Congenital hypothyroidism	GPathogenic
Select item 894421	NM_003466.4(PAX8):c.602G>A (p.Ser201Asn)	LOC126806316, PAX8 +1 more (S201N)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 894420	NM_003466.4(PAX8):c.700G>A (p.Glu234Lys)	LOC126806316, PAX8 +1 more (E234K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 801741	NM_003466.4(PAX8):c.709G>C (p.Glu237Gln)	LOC126806316, PAX8 +1 more (E237Q)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely benign
Select item 795092	NM_003466.4(PAX8):c.519G>A (p.Ser173=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771623	NM_003466.4(PAX8):c.708C>T (p.Leu236=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 722256	NM_003466.4(PAX8):c.651C>T (p.Ser217=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714128	NM_003466.4(PAX8):c.704C>T (p.Pro235Leu)	LOC126806316, PAX8 +1 more (P235L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 706366	NM_003466.4(PAX8):c.705G>A (p.Pro235=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 330892	NM_003466.4(PAX8):c.501C>A (p.Pro167=)	PAX8-AS1, LOC126806316 +1 more	Single nucleotide variant (synonymous variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 32