"SALL4-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 674937	NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser)	SALL4 (G1035S +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2407371	NM_020436.5(SALL4):c.3098C>T (p.Thr1033Ile)	SALL4 (T1033I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3041050	NM_020436.5(SALL4):c.2916C>T (p.Tyr972=)	SALL4	Single nucleotide variant (synonymous variant)	SALL4-related disorder	GLikely benign
Select item 3033985	NM_020436.5(SALL4):c.2831C>T (p.Thr944Met)	SALL4 (T507M +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 2630372	NM_020436.5(SALL4):c.2788_2789delinsC (p.Gly930fs)	SALL4 (G493fs +1 more)	Indel (frameshift variant)	SALL4-related disorder	GUncertain significance
Select item 2086094	NM_020436.5(SALL4):c.2743-3T>C	SALL4	Single nucleotide variant (intron variant)	SALL4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2635209	NM_020436.5(SALL4):c.2594G>T (p.Arg865Leu)	SALL4 (R428L +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 281638	NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)	SALL4 (T828M +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3030771	NM_020436.5(SALL4):c.2477C>G (p.Pro826Arg)	SALL4 (P389R +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 3043757	NM_020436.5(SALL4):c.2461+6A>G	SALL4	Single nucleotide variant (intron variant)	SALL4-related disorder	GLikely benign
Select item 2633462	NM_020436.5(SALL4):c.2400delinsTT (p.Ser800_Lys801insTer)	SALL4	Indel (frameshift variant +1 more)	SALL4-related disorder	GLikely pathogenic
Select item 338768	NM_020436.5(SALL4):c.2268C>T (p.Ser756=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +3 more	GLikely benign
Select item 195362	NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)	SALL4 (A739S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 730729	NM_020436.5(SALL4):c.2166A>G (p.Leu722=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 338771	NM_020436.5(SALL4):c.2162C>T (p.Thr721Met)	SALL4 (T721M)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome +2 more	GConflicting classifications of pathogenicity
Select item 498780	NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr)	SALL4 (A681T)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome +2 more	GConflicting classifications of pathogenicity
Select item 725092	NM_020436.5(SALL4):c.2028C>T (p.Asn676=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	SALL4-related disorder +1 more	GBenign/Likely benign
Select item 338773	NM_020436.5(SALL4):c.1950C>T (p.Gly650=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 287161	NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)	SALL4 (P544S)	Single nucleotide variant (missense variant +1 more)	SALL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 288147	NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg)	SALL4 (G523R)	Single nucleotide variant (missense variant +1 more)	SALL4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2038237	NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)	SALL4 (S491L)	Single nucleotide variant (missense variant +1 more)	SALL4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 800255	NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu)	SALL4 (P464L)	Single nucleotide variant (missense variant +1 more)	SALL4-related disorder +1 more	GLikely benign
Select item 2632937	NM_020436.5(SALL4):c.1379_1380del (p.Ser460fs)	SALL4 (S460fs)	Microsatellite (frameshift variant +1 more)	SALL4-related disorder	GLikely pathogenic
Select item 286842	NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)	SALL4 (F429L)	Single nucleotide variant (missense variant +1 more)	SALL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2633659	NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)	SALL4 (C415fs)	Microsatellite (frameshift variant +1 more)	Duane-radial ray syndrome +1 more	GPathogenic
Select item 2500626	NM_020436.5(SALL4):c.1217G>A (p.Gly406Glu)	SALL4 (G406E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2632924	NM_020436.5(SALL4):c.1162A>T (p.Ser388Cys)	SALL4 (S388C)	Single nucleotide variant (missense variant +1 more)	SALL4-related disorder	GUncertain significance
Select item 338776	NM_020436.5(SALL4):c.1113C>G (p.Val371=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +1 more	GBenign/Likely benign
Select item 3031804	NM_020436.5(SALL4):c.1023G>A (p.Ser341=)	SALL4	Single nucleotide variant (synonymous variant)	SALL4-related disorder	GLikely benign
Select item 3044972	NM_020436.5(SALL4):c.962G>A (p.Arg321Gln)	SALL4 (R321Q)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 2629104	NM_020436.5(SALL4):c.888C>A (p.His296Gln)	SALL4 (H296Q)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 2819644	NM_020436.5(SALL4):c.789C>T (p.His263=)	SALL4	Single nucleotide variant (synonymous variant)	SALL4-related disorder +1 more	GLikely benign
Select item 286760	NM_020436.5(SALL4):c.766A>G (p.Thr256Ala)	SALL4 (T256A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 338781	NM_020436.5(SALL4):c.541G>A (p.Val181Met)	SALL4 (V181M)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +2 more	GConflicting classifications of pathogenicity
Select item 659699	NM_020436.5(SALL4):c.536C>G (p.Thr179Ser)	SALL4 (T179S)	Single nucleotide variant (missense variant)	SALL4-related disorder +1 more	GUncertain significance
Select item 3050879	NM_020436.5(SALL4):c.534C>G (p.Asn178Lys)	SALL4 (N178K)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 2628946	NM_020436.5(SALL4):c.454G>A (p.Val152Met)	SALL4 (V152M)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 703339	NM_020436.5(SALL4):c.411C>G (p.Gly137=)	SALL4	Single nucleotide variant (synonymous variant)	SALL4-related disorder +2 more	GLikely benign
Select item 2040040	NM_020436.5(SALL4):c.339A>G (p.Glu113=)	SALL4	Single nucleotide variant (synonymous variant)	SALL4-related disorder +1 more	GBenign/Likely benign
Select item 2631969	NM_020436.5(SALL4):c.167C>T (p.Ala56Val)	SALL4 (A56V)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 2628876	NM_020436.5(SALL4):c.67C>T (p.Pro23Ser)	SALL4 (P23S)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance

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Items: 41