ClinVar for MedGen (Select 1676827) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066026	NM_000489.6(ATRX):c.667T>C (p.Cys223Arg)	ATRX (C185R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 3024233	NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)	ATRX (I2210V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GUncertain significance
Select item 2687742	NM_000489.6(ATRX):c.3649G>A (p.Gly1217Ser)	ATRX (G1179S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 2579736	NM_000489.6(ATRX):c.5567G>A (p.Gly1856Asp)	ATRX (G1818D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 2572305	NM_000489.6(ATRX):c.671C>T (p.Ala224Val)	ATRX (A186V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 2506580	NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)	ATRX (L134fs)	Duplication (frameshift variant +1 more)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GPathogenic
Select item 2500069	NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala)	ATRX (G749A +1 more)	Single nucleotide variant (missense variant)	Acquired hemoglobin H disease +2 more	GUncertain significance
Select item 2442228	NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)	ATRX (L215S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GLikely pathogenic
Select item 2431397	NM_000489.6(ATRX):c.6003G>C (p.Trp2001Cys)	ATRX (W1963C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 2166850	NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)	ATRX (K1066E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1992338	NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)	ATRX (S2005P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 1802595	NM_000489.6(ATRX):c.7366dup (p.Met2456fs)	ATRX (M2418fs +1 more)	Duplication (frameshift variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GPathogenic
Select item 1710247	NM_000489.6(ATRX):c.2101C>T (p.Arg701Cys)	ATRX (R663C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1710155	NM_000489.6(ATRX):c.134-4884_242+41del	ATRX	Deletion (splice acceptor variant +1 more)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GPathogenic
Select item 1709646	NM_031407.7(HUWE1):c.12778G>A (p.Asp4260Asn)	HUWE1 (D188N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1709219	NM_000489.6(ATRX):c.5302A>T (p.Asn1768Tyr)	ATRX (N1730Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1709053	NM_000489.6(ATRX):c.1466C>T (p.Thr489Ile)	ATRX (T451I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1701648	NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val)	ATRX (G1330V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 1696484	NM_000489.6(ATRX):c.7066G>A (p.Ala2356Thr)	ATRX (A2318T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GUncertain significance
Select item 1679750	NM_000489.6(ATRX):c.1808C>T (p.Ala603Val)	ATRX (A565V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 1343274	NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)	ATRX (M1723V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GLikely pathogenic
Select item 1342720	NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn)	ATRX (S1103N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1342508	NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr)	ATRX (S1113T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1339166	NM_000489.6(ATRX):c.5137C>T (p.Pro1713Ser)	ATRX (P1675S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1333729	NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu)	ATRX (P2180L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1332803	NM_000489.6(ATRX):c.809C>T (p.Pro270Leu)	ATRX (P232L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GPathogenic
Select item 1321258	NM_000489.6(ATRX):c.5461A>G (p.Thr1821Ala)	ATRX (T1783A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1319036	NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg)	ATRX (T403R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1195968	NM_000489.6(ATRX):c.5803A>G (p.Lys1935Glu)	ATRX (K1897E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 1195967	NM_000489.6(ATRX):c.3318T>A (p.Asp1106Glu)	ATRX (D1068E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 1195966	NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile)	ATRX (K744I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GUncertain significance
Select item 1121196	NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1098671	NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu)	ATRX (K456E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GUncertain significance
Select item 1028793	NM_000489.6(ATRX):c.715T>C (p.Phe239Leu)	ATRX (F201L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 1028792	NM_000489.6(ATRX):c.5449-7A>G	ATRX	Single nucleotide variant (intron variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GLikely pathogenic
Select item 1028789	NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)	ATRX (G739R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1006819	NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)	ATRX (E891D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GConflicting classifications of pathogenicity
Select item 988759	NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)	ATRX (L601W +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 981648	NM_000489.6(ATRX):c.6504+5_6504+14del	ATRX	Deletion (intron variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 976782	NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr)	ATRX (C242Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 976314	NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val)	ATRX (F2015V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 975982	NM_000489.6(ATRX):c.796T>C (p.Tyr266His)	ATRX (Y228H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 975655	NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)	ATRX (N1656D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 952292	NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)	ATRX (K1057N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 699023	NM_000489.6(ATRX):c.1974T>G (p.Arg658=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 689744	NM_000489.6(ATRX):c.477del (p.Lys159fs)	ATRX (K159fs)	Deletion (frameshift variant +1 more)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GPathogenic
Select item 689743	NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe)	ATRX (V1514F +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 666005	NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)	ATRX (E1448del +1 more)	Microsatellite (inframe_deletion)	Acquired hemoglobin H disease +2 more	GUncertain significance
Select item 639233	NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn)	ATRX (K758N +1 more)	Single nucleotide variant (missense variant)	Acquired hemoglobin H disease +2 more	GUncertain significance
Select item 635063	NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro)	ATRX (T1793P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 635054	NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu)	ATRX (R2085L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 592113	NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile)	ATRX (V1179I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 571718	NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)	ATRX (R1335I +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GConflicting classifications of pathogenicity
Select item 567734	NM_000489.6(ATRX):c.3349A>G (p.Met1117Val)	ATRX (M1117V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 521610	NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)	ATRX (P2478A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 520769	NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)	ATRX (K1305Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GConflicting classifications of pathogenicity
Select item 520624	NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)	ATRX (N2296S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +3 more	GConflicting classifications of pathogenicity
Select item 499933	NM_000489.6(ATRX):c.7201-4A>G	ATRX	Single nucleotide variant (intron variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GConflicting classifications of pathogenicity
Select item 465052	NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)	ATRX (G1071R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 450381	NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)	ATRX (Q689R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 444816	NM_000489.6(ATRX):c.134A>T (p.Asp45Val)	ATRX (D45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441036	Single allele		Single nucleotide variant	Intellectual disability-hypotonic facies syndrome, X-linked, 1	Gnot provided
Select item 434469	NM_000489.6(ATRX):c.1219C>G (p.Leu407Val)	ATRX (L407V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GUncertain significance
Select item 424128	NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)	ATRX (K1357R +1 more)	Single nucleotide variant (missense variant)	Acquired hemoglobin H disease +3 more	GUncertain significance
Select item 403668	NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)	ATRX (P717L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372728	NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)	ATRX (R2085H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 372309	NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)	ATRX (R2178W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 284840	NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)	ATRX (E1377G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 268130	NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	EPOR (P488S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GBenign/Likely benign
Select item 224111	NM_000489.6(ATRX):c.1423C>T (p.His475Tyr)	ATRX (H475Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GUncertain significance
Select item 199026	NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)	ATRX (E928Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 166714	NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)	ATRX (E723D +1 more)	Single nucleotide variant (missense variant)	ATRX-related condition +6 more	GBenign/Likely benign
Select item 128495	NM_000489.6(ATRX):c.228G>A (p.Ser76=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 93142	NM_000489.6(ATRX):c.570T>G (p.Pro190=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 93141	NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	ATRX (N179S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 93140	NM_000489.6(ATRX):c.4659T>C (p.His1553=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 93135	NM_000489.6(ATRX):c.2785= (p.Glu929=)	ATRX	Single nucleotide variant (no sequence alteration)	Inborn genetic diseases +4 more	GBenign
Select item 11742	NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	ATRX (R37*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 11739	NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)	ATRX (T1621M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 11735	NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	ATRX (R246C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 11734	NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)	ATRX (P152A +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely pathogenic
Select item 11731	NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)	ATRX (R2093Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 11728	NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	ATRX (R2348* +1 more)	Single nucleotide variant (nonsense)	Microcephaly +9 more	GPathogenic

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Items: 83