ClinVar for MedGen (Select 1674629) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068019	NM_001940.4(ATN1):c.430_444del (p.Asp144_Ser148del)	ATN1	Deletion (inframe_deletion +1 more)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 3064958	NM_001940.4(ATN1):c.1586C>G (p.Pro529Arg)	ATN1 (P521R +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 3064478	NM_001940.4(ATN1):c.1961C>T (p.Pro654Leu)	ATN1 (P646L +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 2627566	NM_001940.4(ATN1):c.3429_3437delinsT (p.Met1143fs)	ATN1 (M1135fs +2 more)	Indel (frameshift variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 2582516	NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)	ATN1 (S527Y +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GUncertain significance
Select item 1696677	NM_001940.4(ATN1):c.2066C>T (p.Ser689Leu)	ATN1 (S689L)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 1687606	NM_001940.4(ATN1):c.3176C>T (p.Ser1059Leu)	ATN1 (S1059L)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GUncertain significance
Select item 1342406	NM_001940.4(ATN1):c.2611A>G (p.Thr871Ala)	ATN1 (T871A)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GUncertain significance
Select item 1187119	NM_001940.4(ATN1):c.1467G>A (p.Gln489=)	LOC109461484, ATN1	Single nucleotide variant (synonymous variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more	GLikely benign
Select item 1174682	NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)	ATN1, LOC109461484 (Q502del)	Microsatellite (inframe_deletion)	ATN1-related disorder +2 more	GLikely benign
Select item 1027369	NM_001940.4(ATN1):c.3182TGCACC[1] (p.1061LH[1])	ATN1	Microsatellite (inframe_deletion)	ATN1-related disorder +1 more	GLikely pathogenic
Select item 1027368	NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])	ATN1	Microsatellite (inframe_insertion)	Dentatorubral-pallidoluysian atrophy	GLikely pathogenic
Select item 1027367	NM_001940.4(ATN1):c.3167A>C (p.His1056Pro)	ATN1 (H1056P)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GLikely pathogenic
Select item 1012272	NM_001940.4(ATN1):c.3165_3176del (p.Ile1057_His1060del)	ATN1	Deletion (inframe_deletion)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GPathogenic
Select item 1012271	NM_001940.4(ATN1):c.3155A>C (p.His1052Pro)	ATN1 (H1052P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 982647	NM_001940.4(ATN1):c.1464GCA[21] (p.Gln497_Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more	GBenign/Likely benign
Select item 982646	NM_001940.4(ATN1):c.706A>C (p.Lys236Gln)	ATN1 (K236Q)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more	GLikely benign
Select item 599473	NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not provided +4 more	GBenign/Likely benign
Select item 590921	NM_001940.4(ATN1):c.3185A>G (p.His1062Arg)	ATN1 (H1062R)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GPathogenic/Likely pathogenic
Select item 487497	NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr)	ATN1 (H1058Y)	Single nucleotide variant (missense variant)	ATN1-related disorder	GPathogenic
Select item 487496	NM_001940.4(ATN1):c.3160C>A (p.His1054Asn)	ATN1 (H1054N)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GPathogenic
Select item 421998	NM_001940.4(ATN1):c.3177_3178insAACCTG (p.Ser1059_His1060insAsnLeu)	ATN1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 191276	NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)	ATN1 (H1060Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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Items: 23