Related gene-specific medical variations for Gene (Select 6992) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308793	NM_170783.4(POLR1H):c.274C>G (p.His92Asp)	POLR1H, PPP1R11 (H92D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216498	NM_170783.4(POLR1H):c.86T>G (p.Leu29Arg)	POLR1H, PPP1R11 (L29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216497	NM_170783.4(POLR1H):c.62C>T (p.Ser21Leu)	POLR1H, PPP1R11 (S21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216496	NM_170783.4(POLR1H):c.344G>A (p.Cys115Tyr)	POLR1H, PPP1R11 (C115Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216495	NM_170783.4(POLR1H):c.256C>T (p.Arg86Cys)	POLR1H, PPP1R11 (R86C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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