"Ambry Genetics"[submitter] AND "AHI1"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 842041	NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)	AHI1 (I1195V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 355495	NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)	AHI1 (R1181Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2055869	NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)	AHI1 (K1147R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1389334	NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile)	AHI1 (T1110I)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +3 more	GUncertain significance
Select item 1375294	NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr)	AHI1 (I1093T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2410344	NM_001134831.2(AHI1):c.3212C>G (p.Thr1071Ser)	AHI1 (T1071S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 645894	NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)	AHI1 (E1069G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1390662	NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)	AHI1 (A1024T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2243370	NM_001134831.2(AHI1):c.3034C>A (p.Gln1012Lys)	AHI1 (Q1012K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 355497	NM_001134831.2(AHI1):c.2962-3T>C	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +2 more	GUncertain significance
Select item 1627886	NM_001134831.2(AHI1):c.2921C>T (p.Thr974Met)	AHI1 (T974M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 841941	NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala)	AHI1 (T974A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1004393	NM_001134831.2(AHI1):c.2906C>G (p.Thr969Ser)	AHI1 (T969S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2237558	NM_001134831.2(AHI1):c.2879C>T (p.Ser960Phe)	AHI1 (S960F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376893	NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg)	AHI1 (Q944R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1313433	NM_001134831.2(AHI1):c.2638A>G (p.Met880Val)	AHI1 (M880V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 1386740	NM_001134831.2(AHI1):c.2614C>A (p.Pro872Thr)	AHI1 (P872T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2378394	NM_001134831.2(AHI1):c.2606T>C (p.Val869Ala)	AHI1 (V869A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1008642	NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala)	AHI1 (T850A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2552857	NM_001134831.2(AHI1):c.2543A>G (p.His848Arg)	AHI1 (H848R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 954799	NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln)	AHI1 (R830Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 809997	NM_001134831.2(AHI1):c.2266+3A>G	AHI1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2137908	NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)	AHI1 (T754I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 838579	NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg)	AHI1 (K744R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1037312	NM_001134831.2(AHI1):c.2209G>A (p.Val737Ile)	AHI1 (V737I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1423530	NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val)	AHI1 (I669V)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GUncertain significance
Select item 1008740	NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp)	AHI1 (R631W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2438944	NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)	AHI1 (I623T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2276830	NM_001134831.2(AHI1):c.1799A>G (p.Lys600Arg)	AHI1 (K600R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222942	NM_001134831.2(AHI1):c.1763A>C (p.Lys588Thr)	AHI1 (K588T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370059	NM_001134831.2(AHI1):c.1761G>C (p.Trp587Cys)	AHI1 (W587C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265471	NM_001134831.2(AHI1):c.1529G>C (p.Ser510Thr)	AHI1 (S510T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450058	NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)	AHI1 (N485S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1422218	NM_001134831.2(AHI1):c.1420del (p.Ile474fs)	AHI1 (I474fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 434113	NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)	AHI1 (R472Q)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2526406	NM_001134831.2(AHI1):c.1403A>C (p.Glu468Ala)	AHI1 (E468A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313960	NM_001134831.2(AHI1):c.1268A>G (p.Gln423Arg)	AHI1 (Q423R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431900	NM_001134831.2(AHI1):c.1214C>A (p.Thr405Asn)	AHI1 (T405N)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2285361	NM_001134831.2(AHI1):c.1207A>G (p.Ile403Val)	AHI1 (I403V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1440575	NM_001134831.2(AHI1):c.1189G>A (p.Val397Met)	AHI1 (V397M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1064388	NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys)	AHI1 (Y392C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1004769	NM_001134831.2(AHI1):c.1105C>G (p.His369Asp)	AHI1 (H369D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1057096	NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val)	AHI1 (I349V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 198882	NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)	AHI1 (L345M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 857917	NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)	AHI1 (L338W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 215522	NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)	AHI1 (D330G)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1414009	NM_001134831.2(AHI1):c.950A>T (p.Asp317Val)	AHI1 (D317V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2131159	NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)	AHI1 (N314D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2537198	NM_001134831.2(AHI1):c.877A>G (p.Met293Val)	AHI1 (M293V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990580	NM_001134831.2(AHI1):c.872A>C (p.Asp291Ala)	AHI1 (D291A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2288103	NM_001134831.2(AHI1):c.700A>G (p.Lys234Glu)	AHI1 (K234E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534916	NM_001134831.2(AHI1):c.624A>G (p.Ile208Met)	AHI1 (I208M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328741	NM_001134831.2(AHI1):c.526G>A (p.Gly176Arg)	AHI1 (G176R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188886	NM_001134831.2(AHI1):c.499C>A (p.His167Asn)	AHI1 (H167N)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2243241	NM_001134831.2(AHI1):c.494T>C (p.Val165Ala)	AHI1 (V165A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366693	NM_001134831.2(AHI1):c.472C>T (p.His158Tyr)	AHI1 (H158Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1896321	NM_001134831.2(AHI1):c.390A>G (p.Ile130Met)	AHI1 (I130M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1517152	NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)	AHI1 (T94M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1059833	NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala)	AHI1 (T78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 904081	NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)	AHI1 (R15C)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GUncertain significance

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Items: 60