Related gene-specific medical variations for Gene (Select 253738) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360603	NM_001375380.1(EBF3):c.1888T>C (p.Ter630Gln)	EBF3 (V520A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065799	NM_001375380.1(EBF3):c.1873C>T (p.Leu625=)	EBF3 (A515V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 3065192	NM_001375380.1(EBF3):c.455G>C (p.Arg152Pro)	EBF3 (R152P)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 3064805	NM_001375380.1(EBF3):c.370C>A (p.Gln124Lys)	EBF3 (Q124K)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2688997	NM_001375380.1(EBF3):c.967G>A (p.Val323Ile)	EBF3 (V314I +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2576083	NM_001375380.1(EBF3):c.961C>T (p.Pro321Ser)	EBF3 (P312S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573011	NM_001375380.1(EBF3):c.1346C>G (p.Ser449Ter)	EBF3 (S440* +1 more)	Single nucleotide variant (nonsense)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 2442003	NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)	EBF3 (Q470* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 2441166	NM_001375380.1(EBF3):c.737G>A (p.Arg246His)	EBF3 (R246H)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441165	NM_001375380.1(EBF3):c.301A>G (p.Asn101Asp)	EBF3 (N101D)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441164	NM_001375380.1(EBF3):c.1875A>G (p.Leu625=)	EBF3 (M516V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441162	NM_001375380.1(EBF3):c.356-4G>C	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441161	NM_001375380.1(EBF3):c.828G>A (p.Thr276=)	EBF3	Single nucleotide variant (synonymous variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441160	NM_001375380.1(EBF3):c.612C>A (p.Asn204Lys)	EBF3 (N204K)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441159	NM_001375380.1(EBF3):c.66C>G (p.Ser22Arg)	EBF3 (S22R)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2429986	NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)	EBF3 (Q78*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 2429838	NM_001375380.1(EBF3):c.146T>C (p.Leu49Pro)	EBF3 (L49P)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429837	NM_001375380.1(EBF3):c.1593_1605del (p.Ser532fs)	EBF3 (S460fs +1 more)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 1810200	NM_001375380.1(EBF3):c.486-12A>G	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1184357	NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala)	EBF3 (T442A +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 975542	NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser)	EBF3 (C161S)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 975540	NM_001375380.1(EBF3):c.1759+8T>G	EBF3	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 975539	NM_001375380.1(EBF3):c.135-7C>T	EBF3	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 560684	NM_001375380.1(EBF3):c.461_462delinsCT (p.Leu154Pro)	EBF3 (L154P)	Indel (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 488452	NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys)	EBF3 (R185K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 267357	NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu)	EBF3 (K193E)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely pathogenic
Select item 100819	NM_001375380.1(EBF3):c.534A>T (p.Ser178=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Links from Gene

Items: 27