"AHI1-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057761	NM_001134831.2(AHI1):c.*28G>A	AHI1	Single nucleotide variant (3 prime UTR variant)	AHI1-related condition	GLikely benign
Select item 3058290	NM_001134831.2(AHI1):c.*27C>G	AHI1	Single nucleotide variant (3 prime UTR variant)	AHI1-related condition	GLikely benign
Select item 286680	NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile)	AHI1 (M1182I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 512616	NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)	AHI1 (D1179Y)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 388935	NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)	AHI1 (E1168G)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 2044551	NM_001134831.2(AHI1):c.3201A>C (p.Ser1067=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 696692	NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)	AHI1 (R982M)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GLikely benign
Select item 1629732	NM_001134831.2(AHI1):c.2922G>A (p.Thr974=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 217532	NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	AHI1 (H896R)	Single nucleotide variant (missense variant)	AHI1-related condition +3 more	GPathogenic
Select item 1136954	NM_001134831.2(AHI1):c.2373+10C>A	AHI1	Single nucleotide variant (intron variant)	AHI1-related condition +1 more	GLikely benign
Select item 1100279	NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=)	AHI1	Single nucleotide variant (synonymous variant)	AHI1-related condition +2 more	GLikely benign
Select item 2630574	NM_001134831.2(AHI1):c.1841G>A (p.Cys614Tyr)	AHI1 (C614Y)	Single nucleotide variant (missense variant)	AHI1-related condition	GUncertain significance
Select item 700488	NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln)	AHI1 (R610Q)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2067796	NM_001134831.2(AHI1):c.1686T>C (p.His562=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 697508	NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)	AHI1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 215522	NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)	AHI1 (D330G)	Single nucleotide variant (missense variant)	AHI1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 284422	NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)	AHI1 (R329L)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 1982269	NM_001134831.2(AHI1):c.932-7C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 260861	NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)	AHI1 (P242S)	Single nucleotide variant (missense variant)	AHI1-related condition +4 more	GBenign/Likely benign
Select item 445436	NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)	AHI1 (Y218C)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 1088456	NM_001134831.2(AHI1):c.420C>T (p.Asp140=)	AHI1	Single nucleotide variant (synonymous variant)	AHI1-related condition +1 more	GLikely benign
Select item 2074986	NM_001134831.2(AHI1):c.312A>G (p.Thr104=)	AHI1	Single nucleotide variant (synonymous variant)	AHI1-related condition +1 more	GLikely benign
Select item 2632772	NM_001134831.2(AHI1):c.300dup (p.Leu101fs)	AHI1 (L101fs)	Duplication (frameshift variant)	AHI1-related condition	GLikely pathogenic
Select item 2734579	NM_001134831.2(AHI1):c.297C>T (p.Asn99=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 700710	NM_001134831.2(AHI1):c.136-8C>T	AHI1	Single nucleotide variant (intron variant)	AHI1-related condition +2 more	GLikely benign
Select item 3032616	NM_001134831.2(AHI1):c.119C>T (p.Ser40Phe)	AHI1 (S40F)	Single nucleotide variant (missense variant)	AHI1-related condition	GUncertain significance
Select item 904080	NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)	AHI1 (R28C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GBenign/Likely benign
Select item 235687	NM_001134831.2(AHI1):c.-140+1G>T	AHI1	Single nucleotide variant (intron variant +1 more)	AHI1-related condition +2 more	GConflicting classifications of pathogenicity

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Items: 28