Related gene-specific medical variations for Gene (Select 5077) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208976	NM_181458.4(PAX3):c.1135C>T (p.Pro379Ser)	LOC126806529, PAX3 (P379S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3012911	NM_181458.4(PAX3):c.85+18C>G	CCDC140, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919319	NM_181458.4(PAX3):c.19G>T (p.Ala7Ser)	CCDC140, PAX3 (A7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866409	NM_181458.4(PAX3):c.1113_1115dup (p.Pro373_Ser374insPro)	LOC126806529, PAX3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2863272	NM_181458.4(PAX3):c.1162C>G (p.Leu388Val)	LOC126806529, PAX3 (L387V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808619	NM_181458.4(PAX3):c.63G>A (p.Pro21=)	CCDC140, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791415	NM_181458.4(PAX3):c.77C>T (p.Pro26Leu)	CCDC140, PAX3 (P26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780971	NM_181458.4(PAX3):c.69C>T (p.Ser23=)	CCDC140, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700189	NM_181458.4(PAX3):c.16G>C (p.Gly6Arg)	CCDC140, LOC107980445 +1 more (G6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633055	NM_181458.4(PAX3):c.994C>T (p.Gln332Ter)	LOC126806529, PAX3 (Q331* +1 more)	Single nucleotide variant (nonsense)	PAX3-related disorder	GLikely pathogenic
Select item 2579126	NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)	PAX3 (S200* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2443446	NM_181458.4(PAX3):c.1107C>G (p.Ser369Arg)	LOC126806529, PAX3 (S368R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155770	NM_181458.4(PAX3):c.1121C>T (p.Ser374Leu)	LOC126806529, PAX3 (S374L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131126	NM_181458.4(PAX3):c.1111G>T (p.Val371Leu)	LOC126806529, PAX3 (V371L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941819	NM_181458.4(PAX3):c.1160G>A (p.Gly387Asp)	LOC126806529, PAX3 (G387D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696489	NM_181458.4(PAX3):c.683C>T (p.Ala228Val)	PAX3 (A227V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +2 more	GUncertain significance
Select item 1690361	NM_181458.4(PAX3):c.1127C>A (p.Pro376His)	LOC126806529, PAX3 (P375H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453696	NM_181458.4(PAX3):c.1015_1016del (p.Val339fs)	LOC126806529, PAX3 (V338fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1387929	NM_181458.4(PAX3):c.998C>T (p.Pro333Leu)	LOC126806529, PAX3 (P332L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1335446	NM_181458.4(PAX3):c.64C>A (p.Arg22Ser)	CCDC140, PAX3 (R22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310730	NM_181458.4(PAX3):c.1151T>C (p.Ile384Thr)	LOC126806529, PAX3 (I383T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306788	NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)	LOC126806529, PAX3 (S345P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +4 more	GUncertain significance
Select item 1275818	NM_181458.4(PAX3):c.1097del (p.Tyr366fs)	LOC126806529, PAX3 (Y365fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1251800	NM_181458.4(PAX3):c.958+294G>A	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250844	NM_181458.4(PAX3):c.1173+26G>A	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207871	NM_181458.4(PAX3):c.959-28T>C	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196080	NM_181458.4(PAX3):c.1173+40C>T	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1065041	NM_181458.4(PAX3):c.1145C>A (p.Pro382His)	LOC126806529, PAX3 (P381H +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 995917	GRCh37/hg19 2q36.1(chr2:222199886-222298997)	EPHA4, PAX3	Copy number loss	Waardenburg syndrome type 1	GPathogenic
Select item 916253	NM_181458.4(PAX3):c.290G>C (p.Arg97Pro)	PAX3 (R97P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 899135	NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)	LOC126806529, PAX3 (T338S +1 more)	Single nucleotide variant (missense variant)	Craniofacial-deafness-hand syndrome +2 more	GUncertain significance
Select item 895088	NM_181458.4(PAX3):c.-99C>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 895017	NM_181458.4(PAX3):c.981C>T (p.Thr327=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 817688	NM_181458.4(PAX3):c.68del (p.Ser23fs)	PAX3, CCDC140 (S23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 800731	NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)	LOC126806529, PAX3 (T359fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 794135	NM_181458.4(PAX3):c.71G>T (p.Gly24Val)	CCDC140, PAX3 (G24V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783361	NM_181458.4(PAX3):c.1071C>T (p.Pro357=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	PAX3-related disorder +1 more	GBenign/Likely benign
Select item 739452	NM_181458.4(PAX3):c.1029G>A (p.Thr343=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 727828	NM_181458.4(PAX3):c.1173+9C>T	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715840	NM_181458.4(PAX3):c.1107C>T (p.Ser369=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667018	NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter)	LOC126806529, PAX3 (S389* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 547751	NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)	LOC126806529, PAX3 (Q341* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 545903	NM_181458.4(PAX3):c.39del (p.Pro14fs)	CCDC140, PAX3 (P14fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 505111	NM_181458.4(PAX3):c.1116T>A (p.Pro372=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 504760	NM_181458.4(PAX3):c.9G>A (p.Thr3=)	CCDC140, LOC107980445 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 504759	NM_181458.4(PAX3):c.958+9G>A	LOC126806529, PAX3	Single nucleotide variant (intron variant)	Craniofacial-deafness-hand syndrome +3 more	GConflicting classifications of pathogenicity
Select item 504758	NM_181458.4(PAX3):c.982G>A (p.Val328Ile)	LOC126806529, PAX3 (V327I +1 more)	Single nucleotide variant (missense variant)	PAX3-related disorder +2 more	GLikely benign
Select item 421240	NM_181458.4(PAX3):c.85+2dup	CCDC140, PAX3	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 334567	NM_181458.4(PAX3):c.-359G>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GBenign
Select item 334566	NM_181458.4(PAX3):c.-248A>C	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334565	NM_181458.4(PAX3):c.-205C>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 334564	NM_181458.4(PAX3):c.-156C>A	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334563	NM_181458.4(PAX3):c.-156C>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334562	NM_181458.4(PAX3):c.47C>T (p.Pro16Leu)	CCDC140, PAX3 (P16L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 334559	NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)	LOC126806529, PAX3 (P373L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 262981	NM_181458.4(PAX3):c.321+8G>A	PAX3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 252800	NM_181458.4(PAX3):c.968A>G (p.Asp323Gly)	LOC126806529, PAX3 (D323G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 235363	NM_181458.4(PAX3):c.505G>A (p.Glu169Lys)	PAX3 (E169K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226993	NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)	LOC126806529, PAX3 (P334S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 59