Related gene-specific medical variations for Gene (Select 340526) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315671	NM_001405151.1(RTL5):c.1051G>C (p.Glu351Gln)	NHSL2, RTL5 (E351Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315670	NM_001405151.1(RTL5):c.218T>C (p.Leu73Pro)	NHSL2, RTL5 (L73P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315669	NM_001405151.1(RTL5):c.1664C>T (p.Pro555Leu)	NHSL2, RTL5 (P555L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315667	NM_001405151.1(RTL5):c.1168A>G (p.Lys390Glu)	NHSL2, RTL5 (K390E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3315666	NM_001405151.1(RTL5):c.1336G>A (p.Glu446Lys)	NHSL2, RTL5 (E446K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156936	NM_001405151.1(RTL5):c.935G>C (p.Arg312Pro)	RTL5, NHSL2 (R312P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156935	NM_001405151.1(RTL5):c.927A>T (p.Arg309Ser)	NHSL2, RTL5 (R309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156934	NM_001405151.1(RTL5):c.623A>G (p.Gln208Arg)	NHSL2, RTL5 (Q208R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156933	NM_001405151.1(RTL5):c.490G>A (p.Ala164Thr)	NHSL2, RTL5 (A164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156932	NM_001405151.1(RTL5):c.469T>C (p.Ser157Pro)	NHSL2, RTL5 (S157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156931	NM_001405151.1(RTL5):c.449G>A (p.Arg150Gln)	NHSL2, RTL5 (R150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156930	NM_001405151.1(RTL5):c.251T>C (p.Leu84Pro)	NHSL2, RTL5 (L84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156929	NM_001405151.1(RTL5):c.217C>T (p.Leu73Phe)	NHSL2, RTL5 (L73F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156928	NM_001405151.1(RTL5):c.178A>G (p.Ile60Val)	NHSL2, RTL5 (I60V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156927	NM_001405151.1(RTL5):c.1637G>A (p.Arg546His)	NHSL2, RTL5 (R546H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156926	NM_001405151.1(RTL5):c.1598G>A (p.Arg533His)	NHSL2, RTL5 (R533H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156925	NM_001405151.1(RTL5):c.1583C>G (p.Ser528Cys)	NHSL2, RTL5 (S528C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156924	NM_001405151.1(RTL5):c.1532G>A (p.Arg511Gln)	NHSL2, RTL5 (R511Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156923	NM_001405151.1(RTL5):c.1468G>C (p.Ala490Pro)	NHSL2, RTL5 (A490P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156922	NM_001405151.1(RTL5):c.1429G>C (p.Ala477Pro)	NHSL2, RTL5 (A477P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156921	NM_001405151.1(RTL5):c.1264G>C (p.Asp422His)	NHSL2, RTL5 (D422H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156919	NM_001405151.1(RTL5):c.1259G>A (p.Ser420Asn)	NHSL2, RTL5 (S420N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156918	NM_001405151.1(RTL5):c.11C>T (p.Ala4Val)	NHSL2, RTL5 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156917	NM_001405151.1(RTL5):c.1138G>A (p.Glu380Lys)	NHSL2, RTL5 (E380K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156916	NM_001405151.1(RTL5):c.1094G>C (p.Arg365Pro)	NHSL2, RTL5 (R365P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156915	NM_001405151.1(RTL5):c.1001A>G (p.Asn334Ser)	NHSL2, RTL5 (N334S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660898	NM_001405151.1(RTL5):c.186C>G (p.Pro62=)	NHSL2, RTL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660897	NM_001405151.1(RTL5):c.754G>A (p.Gly252Ser)	NHSL2, RTL5 (G252S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660896	NM_001405151.1(RTL5):c.1654C>T (p.Arg552Cys)	NHSL2, RTL5 (R552C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2619697	NM_001405151.1(RTL5):c.412G>C (p.Glu138Gln)	NHSL2, RTL5 (E138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616192	NM_001405151.1(RTL5):c.449G>T (p.Arg150Leu)	NHSL2, RTL5 (R150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603165	NM_001405151.1(RTL5):c.796T>G (p.Ser266Ala)	NHSL2, RTL5 (S266A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590470	NM_001405151.1(RTL5):c.1253G>T (p.Gly418Val)	NHSL2, RTL5 (G418V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537765	NM_001405151.1(RTL5):c.724C>G (p.Arg242Gly)	NHSL2, RTL5 (R242G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516124	NM_001405151.1(RTL5):c.674G>C (p.Arg225Pro)	NHSL2, RTL5 (R225P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511349	NM_001405151.1(RTL5):c.1429G>A (p.Ala477Thr)	NHSL2, RTL5 (A477T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2480261	NM_001405151.1(RTL5):c.275C>A (p.Pro92Gln)	NHSL2, RTL5 (P92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1300264	NM_001405151.1(RTL5):c.1258A>C (p.Ser420Arg)	NHSL2, RTL5 (S420R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1206127	NM_001405151.1(RTL5):c.1600C>T (p.Arg534Cys)	NHSL2, RTL5 (R534C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 39