"ATN1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048305	NM_001940.4(ATN1):c.86C>T (p.Ser29Leu)	ATN1 (S29L)	Single nucleotide variant (missense variant)	ATN1-related disorder	GLikely benign
Select item 2672489	NM_001940.4(ATN1):c.357C>T (p.Ser119=)	ATN1	Single nucleotide variant (synonymous variant)	ATN1-related disorder +1 more	GLikely benign
Select item 1304826	NM_001940.4(ATN1):c.513G>A (p.Pro171=)	ATN1	Single nucleotide variant (synonymous variant)	ATN1-related disorder +1 more	GBenign
Select item 2214380	NM_001940.4(ATN1):c.536C>T (p.Pro179Leu)	ATN1 (P179L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3040448	NM_001940.4(ATN1):c.644C>T (p.Pro215Leu)	ATN1 (P214L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1701183	NM_001940.4(ATN1):c.748G>A (p.Gly250Ser)	ATN1 (G250S)	Single nucleotide variant (missense variant)	ATN1-related disorder +1 more	GBenign
Select item 2636576	NM_001940.4(ATN1):c.760C>A (p.Pro254Thr)	ATN1 (P253T +1 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GUncertain significance
Select item 2278575	NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)	ATN1 (P275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2633634	NM_001940.4(ATN1):c.1256_1257del (p.Ser419fs)	ATN1 (S418fs +1 more)	Microsatellite (frameshift variant)	ATN1-related disorder	GUncertain significance
Select item 2642644	NM_001940.4(ATN1):c.1392C>T (p.Pro464=)	ATN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630510	NM_001940.4(ATN1):c.1426G>A (p.Val476Ile)	ATN1 (V475I +1 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GUncertain significance
Select item 3043085	NM_001940.4(ATN1):c.1464GCA[23] (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGlnGln)	ATN1, LOC109461484	Microsatellite (inframe insertion +1 more)	ATN1-related disorder	GLikely benign
Select item 599473	NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +4 more	GBenign/Likely benign
Select item 3055682	NM_001940.4(ATN1):c.1464GCA[13] (p.Gln501_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe deletion +2 more)	ATN1-related disorder	GBenign
Select item 1691010	NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	ATN1-related disorder +1 more	GConflicting classifications of pathogenicity
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 3057333	NM_001940.4(ATN1):c.1541C>T (p.Ala514Val)	ATN1 (A506V +3 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GLikely benign
Select item 2631511	NM_001940.4(ATN1):c.1927G>A (p.Ala643Thr)	ATN1 (A635T +3 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GUncertain significance
Select item 3047820	NM_001940.4(ATN1):c.2289T>A (p.Ser763=)	ATN1, LOC130007290	Single nucleotide variant (synonymous variant)	ATN1-related disorder	GLikely benign
Select item 3048964	NM_001940.4(ATN1):c.2486_2503dup (p.Glu834_Leu835insArgGluLysGluArgGlu)	ATN1	Duplication (inframe insertion +1 more)	ATN1-related disorder	GLikely benign
Select item 1299899	NM_001940.4(ATN1):c.2785G>A (p.Ala929Thr)	ATN1 (A929T)	Single nucleotide variant (missense variant)	ATN1-related disorder +1 more	GBenign/Likely benign
Select item 2642656	NM_001940.4(ATN1):c.2823C>G (p.Asp941Glu)	ATN1 (D933E +3 more)	Single nucleotide variant (missense variant)	ATN1-related disorder +1 more	GBenign/Likely benign
Select item 3038193	NM_001940.4(ATN1):c.3095C>T (p.Ala1032Val)	ATN1 (A1024V +3 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GLikely benign
Select item 3056850	NM_001940.4(ATN1):c.3177G>A (p.Ser1059=)	ATN1	Single nucleotide variant (synonymous variant)	ATN1-related disorder	GLikely benign
Select item 1027369	NM_001940.4(ATN1):c.3182TGCACC[1] (p.1061LH[1])	ATN1	Microsatellite (inframe_deletion)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GLikely pathogenic

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Items: 25