"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATN1"[gene - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672489	NM_001940.4(ATN1):c.357C>T (p.Ser119=)	ATN1	Single nucleotide variant (synonymous variant)	ATN1-related condition +1 more	GLikely benign
Select item 210378	NM_001940.4(ATN1):c.408C>T (p.Tyr136=)	ATN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 806816	NM_001940.4(ATN1):c.553C>G (p.Pro185Ala)	ATN1 (P185A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3234201	NM_001940.4(ATN1):c.730G>C (p.Val244Leu)	ATN1 (V243L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2578674	NM_001940.4(ATN1):c.738C>A (p.Gly246=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701183	NM_001940.4(ATN1):c.748G>A (p.Gly250Ser)	ATN1 (G250S)	Single nucleotide variant (missense variant)	ATN1-related condition +1 more	GBenign
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 2642642	NM_001940.4(ATN1):c.825G>A (p.Pro275=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025614	NM_001940.4(ATN1):c.939A>G (p.Ala313=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328879	NM_001940.4(ATN1):c.1005G>A (p.Met335Ile)	ATN1 (M335I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2570817	NM_001940.4(ATN1):c.1101A>G (p.Pro367=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2642643	NM_001940.4(ATN1):c.1190C>T (p.Ser397Phe)	ATN1 (S396F +1 more)	Single nucleotide variant (missense variant)	not provided	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 3024849	NM_001940.4(ATN1):c.1455A>G (p.Gln485=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642645	NM_001940.4(ATN1):c.1464GCA[20] (p.Gln498_Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 982647	NM_001940.4(ATN1):c.1464GCA[21] (p.Gln497_Gln502dup)	LOC109461484, ATN1	Microsatellite (inframe_insertion)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more	GBenign/Likely benign
Select item 210373	NM_001940.4(ATN1):c.1461A>G (p.Gln487=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2642646	NM_001940.4(ATN1):c.1464GCA[7] (p.Gln495_Gln502del)	ATN1, LOC109461484 (Q494del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 2642647	NM_001940.4(ATN1):c.1464G>A (p.Gln488=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642648	NM_001940.4(ATN1):c.1497G>A (p.Gln499=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439319	NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis)	ATN1, LOC109461484	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 806817	NM_001940.4(ATN1):c.1506G>T (p.Gln502His)	ATN1, LOC109461484 (Q502H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642649	NM_001940.4(ATN1):c.1509T>G (p.His503Gln)	ATN1 (H495Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 806818	NM_001940.4(ATN1):c.1509T>C (p.His503=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2479957	NM_001940.4(ATN1):c.1550A>G (p.His517Arg)	ATN1 (H517R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2642650	NM_001940.4(ATN1):c.1752A>G (p.Pro584=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642651	NM_001940.4(ATN1):c.1860C>T (p.Thr620=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694656	NM_001940.4(ATN1):c.1968A>C (p.Gly656=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642652	NM_001940.4(ATN1):c.2014G>C (p.Gly672Arg)	ATN1 (G664R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298533	NM_001940.4(ATN1):c.2157G>A (p.Pro719=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642653	NM_001940.4(ATN1):c.2234G>T (p.Arg745Leu)	ATN1 (R737L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026892	NM_001940.4(ATN1):c.2434C>T (p.Arg812Cys)	ATN1 (R804C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642654	NM_001940.4(ATN1):c.2579G>A (p.Arg860His)	ATN1 (R852H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642655	NM_001940.4(ATN1):c.2709A>G (p.Pro903=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299899	NM_001940.4(ATN1):c.2785G>A (p.Ala929Thr)	ATN1 (A929T)	Single nucleotide variant (missense variant)	ATN1-related condition +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)	not provided +1 more	GBenign/Likely benign
Select item 2642657	NM_001940.4(ATN1):c.2925G>C (p.Gly975=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027362	NM_001940.4(ATN1):c.2959C>T (p.His987Tyr)	ATN1 (H979Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642658	NM_001940.4(ATN1):c.3096G>A (p.Ala1032=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642659	NM_001940.4(ATN1):c.3295C>T (p.Leu1099Phe)	ATN1 (L1091F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067211	NM_001940.4(ATN1):c.3327C>T (p.His1109=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642660	NM_001940.4(ATN1):c.3455G>A (p.Arg1152His)	ATN1 (R1144H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234638	NM_001940.4(ATN1):c.3497C>T (p.Pro1166Leu)	ATN1 (P1158L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642661	NM_001940.4(ATN1):c.3510G>A (p.Val1170=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 45