Related gene-specific medical variations for Gene (Select 29909) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101609	NM_013308.4(GPR171):c.860A>G (p.His287Arg)	GPR171, MED12L (H287R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101607	NM_013308.4(GPR171):c.122A>G (p.Gln41Arg)	GPR171, MED12L (Q41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672965	NM_013308.4(GPR171):c.735G>A (p.Pro245=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654230	NM_013308.4(GPR171):c.520A>G (p.Arg174Gly)	GPR171, MED12L (R174G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654229	NM_013308.4(GPR171):c.879C>T (p.Arg293=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617481	NM_013308.4(GPR171):c.28G>A (p.Val10Ile)	GPR171, MED12L (V10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616255	NM_013308.4(GPR171):c.841G>T (p.Asp281Tyr)	GPR171, MED12L (D281Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591953	NM_013308.4(GPR171):c.545T>A (p.Phe182Tyr)	GPR171, MED12L (F182Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489980	NM_013308.4(GPR171):c.764C>G (p.Thr255Ser)	GPR171, MED12L (T255S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2477514	NM_013308.4(GPR171):c.436A>T (p.Met146Leu)	GPR171, MED12L (M146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371017	NM_013308.4(GPR171):c.775A>G (p.Thr259Ala)	GPR171, MED12L (T259A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332546	NM_013308.4(GPR171):c.821C>T (p.Ala274Val)	GPR171, MED12L (A274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295362	NM_013308.4(GPR171):c.168G>C (p.Leu56Phe)	GPR171, MED12L (L56F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295196	NM_013308.4(GPR171):c.593C>G (p.Ser198Cys)	GPR171, MED12L (S198C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273849	NM_013308.4(GPR171):c.552T>G (p.Cys184Trp)	GPR171, MED12L (C184W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213121	NM_013308.4(GPR171):c.722T>C (p.Ile241Thr)	GPR171, MED12L (I241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709196	NM_013308.4(GPR171):c.15G>A (p.Ser5=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign