Related gene-specific medical variations for Gene (Select 219541) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125003	NM_001317078.4(MED19):c.479C>T (p.Pro160Leu)	LOC126861215, MED19 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125001	NM_001317078.4(MED19):c.368A>G (p.Asp123Gly)	LOC126861215, MED19 (D123G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125000	NM_001317078.4(MED19):c.116G>T (p.Gly39Val)	LOC130005722, MED19 (G39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557546	NM_001317078.4(MED19):c.92C>G (p.Pro31Arg)	LOC130005722, MED19 (P31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481088	NM_001317078.4(MED19):c.522G>T (p.Lys174Asn)	LOC126861215, MED19 (K174N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460411	NM_001317078.4(MED19):c.385T>G (p.Ser129Ala)	LOC126861215, MED19 (S129A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411944	NM_001317078.4(MED19):c.55A>G (p.Thr19Ala)	LOC130005722, MED19 (T19A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350852	NM_001317078.4(MED19):c.548G>A (p.Arg183His)	LOC126861215, MED19 (R183H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299305	NM_001317078.4(MED19):c.154C>T (p.Pro52Ser)	LOC130005722, MED19 (P52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266742	NM_001317078.4(MED19):c.568C>A (p.Pro190Thr)	LOC126861215, MED19 (P190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210064	NM_001317078.4(MED19):c.472C>T (p.Pro158Ser)	LOC126861215, MED19 (P158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 975444	NM_001317078.4(MED19):c.-2C>T	LOC130005722, MED19	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability	GLikely benign