Related gene-specific medical variations for Gene (Select 64777) - ClinVar

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

Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353648	NM_017838.4(NHP2):c.*4G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	NHP2-related disorder	GLikely benign
Select item 3154828	NM_022762.5(RMND5B):c.809G>A (p.Arg270Gln)	LOC121740634, RMND5B (R257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154827	NM_022762.5(RMND5B):c.793T>C (p.Cys265Arg)	LOC121740634, RMND5B (C265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154826	NM_022762.5(RMND5B):c.776G>A (p.Ser259Asn)	LOC121740634, RMND5B (S259N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068016	NM_022762.5(RMND5B):c.*1800C>G	NHP2, RMND5B (G115R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974055	NM_017838.4(NHP2):c.365G>A (p.Arg122His)	NHP2, RMND5B (A165T +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2920170	NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)	NHP2, RMND5B (S86R +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2875896	NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)	NHP2, RMND5B (Q147*)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2791222	NM_017838.4(NHP2):c.337-18C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2261193	NM_022762.5(RMND5B):c.808C>T (p.Arg270Trp)	LOC121740634, RMND5B (R257W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237657	NM_022762.5(RMND5B):c.721G>A (p.Val241Met)	LOC121740634, RMND5B (V241M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2164637	NM_017838.4(NHP2):c.369dup (p.Thr124fs)	NHP2, RMND5B (T124fs +2 more)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2106996	NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)	NHP2, RMND5B (E141G)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2096625	NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)	NHP2, RMND5B (P152L)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2071769	NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)	RMND5B, NHP2 (P131T)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2047298	NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)	NHP2, RMND5B (E133K)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2001777	NM_017838.4(NHP2):c.436G>C (p.Val146Leu)	NHP2, RMND5B (V146L)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1991352	NM_017838.4(NHP2):c.456C>A (p.Pro152=)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1917923	NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)	NHP2, RMND5B (G119S)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 1896348	NM_017838.4(NHP2):c.337-15C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1699894	NM_017838.4(NHP2):c.*226G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1645979	NM_017838.4(NHP2):c.337-11C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1645196	NM_017838.4(NHP2):c.447G>A (p.Leu149=)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1606761	NM_017838.4(NHP2):c.337-14T>C	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita +2 more	GBenign/Likely benign
Select item 1554146	NM_017838.4(NHP2):c.366C>G (p.Arg122=)	NHP2, RMND5B (A87G +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 1538040	NM_017838.4(NHP2):c.378G>A (p.Val126=)	NHP2, RMND5B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1484639	NM_017838.4(NHP2):c.434A>T (p.Glu145Val)	NHP2, RMND5B (E145V)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1480987	NM_017838.4(NHP2):c.355G>C (p.Gly119Arg)	NHP2, RMND5B (Q83H +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1466556	NM_017838.4(NHP2):c.449C>A (p.Pro150His)	NHP2, RMND5B (P150H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1445797	NM_017838.4(NHP2):c.362A>G (p.Lys121Arg)	NHP2, RMND5B (K121R +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1436804	NM_017838.4(NHP2):c.364C>T (p.Arg122Cys)	NHP2, RMND5B (R122C)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 1432972	NM_017838.4(NHP2):c.460T>G (p.Ter154Gly)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1374273	NM_017838.4(NHP2):c.439C>A (p.Gln147Lys)	NHP2, RMND5B (Q147K)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1260088	NM_017838.4(NHP2):c.337-299A>G	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1219884	NM_017838.4(NHP2):c.337-29del	RMND5B, NHP2	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201611	NM_017838.4(NHP2):c.337-133G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1078550	NM_017838.4(NHP2):c.417C>T (p.Tyr139=)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1026003	NM_017838.4(NHP2):c.418G>A (p.Asp140Asn)	NHP2, RMND5B (D140N)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 972388	NM_017838.4(NHP2):c.441G>T (p.Gln147His)	NHP2, RMND5B (Q147H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 934247	NM_017838.4(NHP2):c.394C>T (p.His132Tyr)	NHP2, RMND5B (H132Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 2 +1 more	GUncertain significance
Select item 854558	NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del)	NHP2, RMND5B (E134del)	Microsatellite (inframe_indel +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 572989	NM_017838.4(NHP2):c.388_395dup (p.His132fs)	NHP2, RMND5B (H132fs)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 435986	NM_017838.4(NHP2):c.369C>T (p.Pro123=)	NHP2, RMND5B (P88L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 435985	NM_017838.4(NHP2):c.*8C>T	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 416618	NM_017838.4(NHP2):c.352G>A (p.Ala118Thr)	NHP2, RMND5B (A118T)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 260940	NM_017838.4(NHP2):c.*11T>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 241215	NM_017838.4(NHP2):c.383T>C (p.Met128Thr)	NHP2, RMND5B (M128T)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 241214	NM_017838.4(NHP2):c.351C>T (p.Ala117=)	NHP2, RMND5B (P82L +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita, autosomal recessive 1 +3 more	GBenign/Likely benign
Select item 4282	NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 4281	NM_017838.4(NHP2):c.376G>A (p.Val126Met)	NHP2, RMND5B (V126M)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic
Select item 4280	NM_017838.4(NHP2):c.415T>C (p.Tyr139His)	NHP2, RMND5B (Y139H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 51