Related gene-specific medical variations for Gene (Select 151278) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1335446	NM_181458.4(PAX3):c.64C>A (p.Arg22Ser)	CCDC140, PAX3 (R22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289033	NC_000002.12:g.222299309G>C	CCDC140, LOC107980445 +1 more	Single nucleotide variant	not provided	GBenign
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 817688	NM_181458.4(PAX3):c.68del (p.Ser23fs)	PAX3, CCDC140 (S23fs)	Deletion (frameshift variant)	not provided	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 545903	NM_181458.4(PAX3):c.39del (p.Pro14fs)	CCDC140, PAX3 (P14fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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

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Links from Gene

Items: 20