MR1[gene] and "single gene"[properties] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2233303	NM_001385161.1(MR1):c.38T>C (p.Ile13Thr)	MR1 (I13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551426	NM_001385161.1(MR1):c.40G>A (p.Val14Met)	MR1 (V14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 996147	NM_001385161.1(MR1):c.92G>A (p.Arg31His)	MR1 (R31H)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency	GPathogenic
Select item 3203776	NM_001385161.1(MR1):c.100G>A (p.Val34Ile)	MR1 (V34I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 129620	NM_001385161.1(MR1):c.116A>G (p.His39Arg)	MR1 (H39R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3295778	NM_001385161.1(MR1):c.133A>G (p.Ile45Val)	MR1 (I45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 129621	NM_001385161.1(MR1):c.138G>A (p.Ser46=)	MR1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2280945	NM_001385161.1(MR1):c.139G>A (p.Val47Ile)	MR1 (V47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224828	NM_001385161.1(MR1):c.148G>A (p.Val50Met)	MR1 (V50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780284	NM_001385161.1(MR1):c.162T>C (p.Pro54=)	MR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3295773	NM_001385161.1(MR1):c.202C>T (p.Arg68Trp)	MR1 (R68W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391306	NM_001385161.1(MR1):c.263T>C (p.Leu88Pro)	MR1 (L88P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618915	NM_001385161.1(MR1):c.273G>C (p.Trp91Cys)	MR1 (W20C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252433	NM_001385161.1(MR1):c.323A>T (p.His108Leu)	MR1 (H108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203790	NM_001385161.1(MR1):c.337A>G (p.Thr113Ala)	MR1 (T113A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203795	NM_001385161.1(MR1):c.340T>C (p.Tyr114His)	MR1 (Y43H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 252587	NM_001385161.1(MR1):c.380G>A (p.Ser127Asn)	MR1 (S127N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355384	NM_001385161.1(MR1):c.385A>G (p.Thr129Ala)	MR1 (T129A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295777	NM_001385161.1(MR1):c.409G>A (p.Asp137Asn)	MR1 (D66N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373042	NM_001385161.1(MR1):c.410A>G (p.Asp137Gly)	MR1 (D137G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593728	NM_001385161.1(MR1):c.434A>G (p.Asn145Ser)	MR1 (N145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295775	NM_001385161.1(MR1):c.487C>G (p.Gln163Glu)	MR1 (Q163E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295774	NM_001385161.1(MR1):c.536T>C (p.Leu179Pro)	MR1 (L179P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 284841	NM_001385161.1(MR1):c.786G>A (p.Ala262=)	MR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2249069	NM_001385161.1(MR1):c.796A>G (p.Ile266Val)	MR1 (I237V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2478872	NM_001385161.1(MR1):c.801G>T (p.Glu267Asp)	MR1 (E267D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594685	NM_001385161.1(MR1):c.822C>A (p.Asn274Lys)	MR1 (N229K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295779	NM_001385161.1(MR1):c.823C>T (p.Leu275Phe)	MR1 (L246F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203821	NM_001385161.1(MR1):c.870G>T (p.Gln290His)	MR1 (Q261H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261341	NM_001385161.1(MR1):c.907A>C (p.Lys303Gln)	MR1 (K303Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295772	NM_001385161.1(MR1):c.977G>A (p.Arg326Lys)	MR1 (R297K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 31