10382[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 1238363	NM_152503.8(MROH8):c.258+501G>T	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249784	NM_152503.8(MROH8):c.258+472T>A	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253465	NM_152503.8(MROH8):c.258+389G>A	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403105	NM_152503.8(MROH8):c.123_151dup (p.His51fs)	MROH8, RPN2 (H51fs)	Duplication (frameshift variant +2 more)	not specified	GBenign
Select item 2771311	NM_002951.5(RPN2):c.12G>C (p.Pro4=)	MROH8, RPN2 (R48G)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1909002	NM_002951.5(RPN2):c.13+11G>T	MROH8, RPN2 (Q44K)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2993305	NM_002951.5(RPN2):c.13+12C>G	MROH8, RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2159331	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGCGGCCGGCACTCTT	RPN2, MROH8	Insertion (nonsense +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2120293	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGGCGGCCGGCACTCTT	MROH8, RPN2 (G36fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2041031	NM_002951.5(RPN2):c.13+21_13+22insATAGACGGGGCCCCGCGGCCGGCACTCTT	RPN2, MROH8 (L38fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1986160	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT	RPN2, MROH8 (A33fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1148510	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT	RPN2, MROH8 (I40fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1115482	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2	Insertion (nonsense +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1272265	NM_002951.5(RPN2):c.13+241C>T	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318003	NM_002951.5(RPN2):c.14-109C>T	RPN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275370	NM_002951.5(RPN2):c.14-57C>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 763560	NM_002951.5(RPN2):c.14-9C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2899481	NM_002951.5(RPN2):c.14-4C>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2193956	NM_002951.5(RPN2):c.25G>A (p.Val9Ile)	RPN2 (V9I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2122575	NM_002951.5(RPN2):c.51A>G (p.Ile17Met)	RPN2 (I17M)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1401248	NM_002951.5(RPN2):c.64G>A (p.Ala22Thr)	RPN2 (A22T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2908879	NM_002951.5(RPN2):c.78T>A (p.Thr26=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2051509	NM_002951.5(RPN2):c.85C>T (p.Leu29Phe)	RPN2 (L29F)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1148227	NM_002951.5(RPN2):c.99C>T (p.Asp33=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1022440	NM_002951.5(RPN2):c.119C>T (p.Ser40Leu)	RPN2 (S40L)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 3315238	NM_002951.5(RPN2):c.125A>G (p.Asp42Gly)	RPN2 (D42G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 843831	NM_002951.5(RPN2):c.157T>C (p.Tyr53His)	RPN2 (Y53H)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2901861	NM_002951.5(RPN2):c.166G>A (p.Val56Met)	RPN2 (V56M)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2848922	NM_002951.5(RPN2):c.184G>A (p.Gly62Ser)	RPN2 (G62S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2746907	NM_002951.5(RPN2):c.185G>C (p.Gly62Ala)	RPN2 (G62A)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 572778	NM_002951.5(RPN2):c.188C>T (p.Ala63Val)	RPN2 (A63V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1718371	NM_002951.5(RPN2):c.193G>T (p.Val65Leu)	RPN2 (V65L)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 195185	NM_002951.5(RPN2):c.196C>T (p.Pro66Ser)	RPN2 (P66S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2139265	NM_002951.5(RPN2):c.207+17C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1283229	NM_002951.5(RPN2):c.207+253G>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287971	NM_002951.5(RPN2):c.208-117T>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3156137	NM_002951.5(RPN2):c.215G>A (p.Cys72Tyr)	RPN2 (C72Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2849993	NM_002951.5(RPN2):c.218C>T (p.Thr73Ile)	RPN2 (T73I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2077665	NM_002951.5(RPN2):c.227G>C (p.Arg76Thr)	RPN2 (R76T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1025411	NM_002951.5(RPN2):c.244A>G (p.Ser82Gly)	RPN2 (S82G)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2599931	NM_002951.5(RPN2):c.254A>G (p.Asp85Gly)	RPN2 (D85G)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 196355	NM_002951.5(RPN2):c.265T>C (p.Tyr89His)	RPN2 (Y89H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1555717	NM_002951.5(RPN2):c.267C>T (p.Tyr89=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 834410	NM_002951.5(RPN2):c.286G>C (p.Ala96Pro)	RPN2 (A96P)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 779621	NM_002951.5(RPN2):c.303+8C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GBenign
Select item 1551575	NM_002951.5(RPN2):c.303+14C>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1170890	NM_002951.5(RPN2):c.303+14C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +1 more	GBenign
Select item 1256966	NM_002951.5(RPN2):c.303+142_303+143dup	RPN2	Duplication (intron variant)	not provided	GBenign
Select item 460291	NM_002951.5(RPN2):c.313T>G (p.Ser105Ala)	RPN2 (S105A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1135424	NM_002951.5(RPN2):c.321G>A (p.Glu107=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2528302	NM_002951.5(RPN2):c.385G>A (p.Val129Ile)	RPN2 (V97I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1139342	NM_002951.5(RPN2):c.394C>T (p.Leu132=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1015672	NM_002951.5(RPN2):c.395T>G (p.Leu132Arg)	RPN2 (L100R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2020133	NM_002951.5(RPN2):c.442del (p.Thr149fs)	RPN2 (T117fs +1 more)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1996757	NM_002951.5(RPN2):c.446C>T (p.Thr149Ile)	RPN2 (T149I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1557398	NM_002951.5(RPN2):c.475C>T (p.Leu159=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1026317	NM_002951.5(RPN2):c.479C>T (p.Ala160Val)	RPN2 (A128V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2195634	NM_002951.5(RPN2):c.479+15C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1238031	NM_002951.5(RPN2):c.479+54G>T	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258726	NM_002951.5(RPN2):c.479+214A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2911306	NM_002951.5(RPN2):c.480-18C>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2051049	NM_002951.5(RPN2):c.484G>A (p.Val162Ile)	RPN2 (V130I +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2704337	NM_002951.5(RPN2):c.504A>G (p.Ala168=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 863434	NM_002951.5(RPN2):c.539T>C (p.Ile180Thr)	RPN2 (I148T +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 167613	NM_002951.5(RPN2):c.540C>T (p.Ile180=)	RPN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2235080	NM_002951.5(RPN2):c.546G>T (p.Glu182Asp)	RPN2 (E150D +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2211376	NM_002951.5(RPN2):c.614T>G (p.Leu205Arg)	RPN2 (L173R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315242	NM_002951.5(RPN2):c.623C>T (p.Thr208Ile)	RPN2 (T208I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520369	NM_002951.5(RPN2):c.646T>C (p.Tyr216His)	RPN2 (Y184H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2164090	NM_002951.5(RPN2):c.673G>A (p.Glu225Lys)	RPN2 (E193K +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1253101	NM_002951.5(RPN2):c.690+146A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294113	NM_002951.5(RPN2):c.691-178A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170206	NM_002951.5(RPN2):c.691-19C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +1 more	GBenign
Select item 2776805	NM_002951.5(RPN2):c.692A>G (p.Asp231Gly)	RPN2 (D247G +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 792631	NM_002951.5(RPN2):c.693T>C (p.Asp231=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2280595	NM_002951.5(RPN2):c.701T>C (p.Ile234Thr)	RPN2 (I234T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1597949	NM_002951.5(RPN2):c.714C>T (p.Asn238=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2052130	NM_002951.5(RPN2):c.715G>A (p.Ala239Thr)	RPN2 (A239T +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1951985	NM_002951.5(RPN2):c.773C>T (p.Ala258Val)	RPN2 (A101V +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2718632	NM_002951.5(RPN2):c.797G>T (p.Arg266Leu)	RPN2 (R234L +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2077834	NM_002951.5(RPN2):c.804C>T (p.His268=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1055522	NM_002951.5(RPN2):c.805G>A (p.Val269Met)	RPN2 (V112M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1133460	NM_002951.5(RPN2):c.840C>T (p.Ser280=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1170271	NM_002951.5(RPN2):c.841G>A (p.Asp281Asn)	RPN2 (D124N +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 3315239	NM_002951.5(RPN2):c.845C>G (p.Thr282Ser)	RPN2 (T250S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315240	NM_002951.5(RPN2):c.854A>T (p.Gln285Leu)	RPN2 (Q253L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1549242	NM_002951.5(RPN2):c.867+12A>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1257123	NM_002951.5(RPN2):c.867+37A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249130	NM_002951.5(RPN2):c.868-78T>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2792150	NM_002951.5(RPN2):c.873A>G (p.Gln291=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2046036	NM_002951.5(RPN2):c.881A>G (p.Asn294Ser)	RPN2 (N137S +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1927086	NM_002951.5(RPN2):c.886C>T (p.Leu296=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2488599	NM_002951.5(RPN2):c.907G>A (p.Ala303Thr)	RPN2 (A271T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1470965	NM_002951.5(RPN2):c.913G>C (p.Val305Leu)	RPN2 (V305L +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1472328	NM_002951.5(RPN2):c.935C>G (p.Ser312Cys)	RPN2 (S312C +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2239905	NM_002951.5(RPN2):c.946A>G (p.Arg316Gly)	RPN2 (R159G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1091580	NM_002951.5(RPN2):c.981T>A (p.Pro327=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign

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