ClinVar for MedGen (Select 233003) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683703	NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp)	SALL4 (G556W +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 1420968	NM_020436.5(SALL4):c.318C>T (p.Ser106=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1373144	NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg)	SALL4 (G993R +1 more)	Single nucleotide variant (missense variant)	Oculootoradial syndrome +1 more	GUncertain significance
Select item 1369285	NM_020436.5(SALL4):c.1496C>T (p.Thr499Met)	SALL4 (T499M)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 1334823	NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr)	SALL4 (C220Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1305604	NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn)	SALL4 (S395N)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome +2 more	GUncertain significance
Select item 1174696	NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn)	SALL4 (D508N +1 more)	Single nucleotide variant (missense variant)	Oculootoradial syndrome +1 more	GUncertain significance
Select item 1165944	NM_020436.5(SALL4):c.762C>T (p.Ala254=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 982635	NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu)	SALL4 (K808E)	Single nucleotide variant (missense variant +1 more)	Oculootoradial syndrome	GUncertain significance
Select item 940159	NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly)	SALL4 (V1027G +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 872738	NM_020436.5(SALL4):c.202C>T (p.Arg68Trp)	SALL4 (R68W)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +3 more	GConflicting classifications of pathogenicity
Select item 779556	NM_020436.5(SALL4):c.42G>C (p.Ser14=)	SALL4	Single nucleotide variant (synonymous variant)	Oculootoradial syndrome +2 more	GLikely benign
Select item 744326	NM_020436.5(SALL4):c.262C>T (p.Leu88=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GLikely benign
Select item 731397	NM_020436.5(SALL4):c.447G>A (p.Ala149=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GLikely benign
Select item 730729	NM_020436.5(SALL4):c.2166A>G (p.Leu722=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Oculootoradial syndrome +1 more	GBenign/Likely benign
Select item 724109	NM_020436.5(SALL4):c.2385C>T (p.Ala795=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Oculootoradial syndrome +1 more	GLikely benign
Select item 711448	NM_020436.5(SALL4):c.2913G>A (p.Gln971=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GLikely benign
Select item 704786	NM_020436.5(SALL4):c.696C>T (p.Thr232=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +1 more	GBenign/Likely benign
Select item 703339	NM_020436.5(SALL4):c.411C>G (p.Gly137=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +1 more	GLikely benign
Select item 624200	NM_020436.5(SALL4):c.131-2del	SALL4	Deletion (splice acceptor variant)	Duane-radial ray syndrome +2 more	GPathogenic/Likely pathogenic
Select item 593118	NM_020436.5(SALL4):c.2447G>A (p.Arg816His)	SALL4 (R816H)	Single nucleotide variant (missense variant +1 more)	Oculootoradial syndrome +2 more	GUncertain significance
Select item 574506	NM_020436.5(SALL4):c.203G>A (p.Arg68Gln)	SALL4 (R68Q)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 509052	NM_020436.5(SALL4):c.2835C>T (p.Asp945=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 387718	NM_020436.5(SALL4):c.950C>T (p.Pro317Leu)	SALL4 (P317L)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +2 more	GUncertain significance
Select item 338779	NM_020436.5(SALL4):c.609C>A (p.Ala203=)	SALL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 338775	NM_020436.5(SALL4):c.1557C>T (p.Pro519=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Oculootoradial syndrome +2 more	GBenign/Likely benign
Select item 338773	NM_020436.5(SALL4):c.1950C>T (p.Gly650=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 338772	NM_020436.5(SALL4):c.2130G>A (p.Thr710=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +2 more	GBenign
Select item 338768	NM_020436.5(SALL4):c.2268C>T (p.Ser756=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +2 more	GLikely benign
Select item 288939	NM_020436.5(SALL4):c.1005T>C (p.Leu335=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GUncertain significance
Select item 286760	NM_020436.5(SALL4):c.766A>G (p.Thr256Ala)	SALL4 (T256A)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 281637	NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser)	SALL4 (T679S)	Single nucleotide variant (missense variant +1 more)	Oculootoradial syndrome +3 more	GUncertain significance
Select item 261264	NM_020436.5(SALL4):c.540T>C (p.Asn180=)	SALL4	Single nucleotide variant (synonymous variant)	Oculootoradial syndrome +3 more	GBenign/Likely benign
Select item 261260	NM_020436.5(SALL4):c.1860A>G (p.Thr620=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 261259	NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)	SALL4 (L507R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 261258	NM_020436.5(SALL4):c.1056G>A (p.Ala352=)	SALL4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 195361	NM_020436.5(SALL4):c.1497G>T (p.Thr499=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 195360	NM_020436.5(SALL4):c.1779G>T (p.Pro593=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 195359	NM_020436.5(SALL4):c.1353C>T (p.Ala451=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 3330	NM_020436.5(SALL4):c.2607del (p.Gln869fs)	SALL4 (Q432fs +1 more)	Deletion (frameshift variant)	Oculootoradial syndrome	GPathogenic

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Items: 40