C4225208[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433719	NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)	MED13L (I2209T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433722	NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)	MED13L (Q2119R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1015642	NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)	MED13L (S2116L)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GUncertain significance
Select item 2433712	NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser)	MED13L (P2062S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2159517	NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)	MED13L (R1933W)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GConflicting classifications of pathogenicity
Select item 2433710	NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)	MED13L (M1732V)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433703	NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)	MED13L (Q1650H)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433721	NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)	MED13L (S1578C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2433717	NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg)	MED13L (K1458R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433706	NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)	MED13L (F1276L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433705	NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)	MED13L (R995G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433711	NM_015335.5(MED13L):c.2952A>G (p.Gln984=)	MED13L	Single nucleotide variant (synonymous variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433704	NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)	MED13L (A977T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433707	NM_015335.5(MED13L):c.2598C>T (p.Pro866=)	MED13L	Single nucleotide variant (synonymous variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 265523	NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)	MED13L (M864L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1043776	NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe)	MED13L (L673F)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GConflicting classifications of pathogenicity
Select item 1281592	NM_015335.5(MED13L):c.1970A>T (p.Asp657Val)	MED13L (D657V)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2433714	NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)	MED13L (L582P)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2689416	NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)	MED13L (C425S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433718	NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly)	MED13L (C423G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1003545	NM_015335.5(MED13L):c.1185A>C (p.Gln395His)	MED13L (Q395H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2433720	NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg)	MED13L (W381R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433708	NM_015335.5(MED13L):c.1067T>G (p.Met356Arg)	MED13L (M356R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433709	NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)	MED13L (H348Y)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433716	NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)	MED13L (G337D)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GConflicting classifications of pathogenicity
Select item 2433715	NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)	MED13L (S300C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433713	NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)	MED13L (S160G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2689417	NM_015335.5(MED13L):c.227T>C (p.Val76Ala)	MED13L (V76A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance

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Items: 28