"Ambry Genetics"[submitter] AND "NR1H4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2312169	NM_001206979.2(NR1H4):c.316A>T (p.Met106Leu)	NR1H4 (M116L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524951	NM_001206979.2(NR1H4):c.511A>G (p.Met171Val)	NR1H4 (M171V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2531743	NM_001206979.2(NR1H4):c.622A>G (p.Lys208Glu)	NR1H4 (K204E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400530	NM_001206979.2(NR1H4):c.692G>A (p.Arg231His)	NR1H4 (R231H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297599	NM_001206979.2(NR1H4):c.764C>G (p.Thr255Ser)	NR1H4 (T255S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412545	NM_001206979.2(NR1H4):c.1003C>T (p.Arg335Cys)	NR1H4 (R284C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622415	NM_001206979.2(NR1H4):c.1058A>C (p.Glu353Ala)	NR1H4 (E302A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 502027	NM_001206979.2(NR1H4):c.1072A>C (p.Asn358His)	NR1H4 (N354H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2278026	NM_001206979.2(NR1H4):c.1121A>G (p.Lys374Arg)	NR1H4 (K323R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236277	NM_001206979.2(NR1H4):c.1153G>A (p.Glu385Lys)	NR1H4 (E334K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 598509	NM_001206979.2(NR1H4):c.1376G>A (p.Arg459Lys)	NR1H4 (R459K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance