ClinVar for Gene (Select 27429) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 297

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368050	NM_013247.5(HTRA2):c.529G>A (p.Val177Ile)	HTRA2 (V177I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362119	NM_013247.5(HTRA2):c.400G>A (p.Ala134Thr)	HTRA2 (A134T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338218	NM_013247.5(HTRA2):c.1156G>T (p.Asp386Tyr)	HTRA2, LOXL3 (D386Y)	Single nucleotide variant (missense variant +3 more)	Autism	GUncertain significance
Select item 3333522	NM_181575.5(AUP1):c.20C>T (p.Pro7Leu)	AUP1, HTRA2 (P7L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3333496	NM_181575.5(AUP1):c.58G>A (p.Gly20Ser)	AUP1, HTRA2 (G20S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3285066	NM_013247.5(HTRA2):c.97C>T (p.Pro33Ser)	HTRA2 (P33S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3285065	NM_013247.5(HTRA2):c.334G>T (p.Gly112Cys)	HTRA2 (G112C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132337	NM_181575.5(AUP1):c.44C>G (p.Ser15Trp)	AUP1, HTRA2 (S15W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3107611	NM_013247.5(HTRA2):c.394C>G (p.Leu132Val)	HTRA2 (L132V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107610	NM_013247.5(HTRA2):c.25G>C (p.Gly9Arg)	HTRA2 (G9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3039120	NM_013247.5(HTRA2):c.1362T>A (p.Pro454=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	HTRA2-related disorder	GLikely benign
Select item 3032948	NM_013247.5(HTRA2):c.1182T>C (p.His394=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	HTRA2-related disorder	GLikely benign
Select item 3004589	NM_013247.5(HTRA2):c.381T>G (p.Gly127=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004313	NM_013247.5(HTRA2):c.423T>C (p.Ala141=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000347	NM_013247.5(HTRA2):c.597G>C (p.Val199=)	HTRA2, LOC129934141	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000213	NM_013247.5(HTRA2):c.221C>T (p.Ser74Phe)	HTRA2 (S74F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993083	NM_013247.5(HTRA2):c.1362T>C (p.Pro454=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2991482	NM_013247.5(HTRA2):c.1115+7G>A	HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977436	NM_013247.5(HTRA2):c.375T>G (p.Gly125=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975164	NM_013247.5(HTRA2):c.341G>C (p.Gly114Ala)	HTRA2 (G114A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974359	NM_013247.5(HTRA2):c.942T>C (p.Asp314=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972582	NM_013247.5(HTRA2):c.507-13C>T	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970683	NM_013247.5(HTRA2):c.507-10_507-9delinsAA	HTRA2, LOC129934140	Indel (intron variant)	not provided	GUncertain significance
Select item 2966217	NM_013247.5(HTRA2):c.1211+15G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2895112	NM_013247.5(HTRA2):c.1225C>T (p.Pro409Ser)	HTRA2, LOXL3 (P387S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2879700	NM_013247.5(HTRA2):c.906+15_906+17del	HTRA2	Deletion (intron variant)	not provided	GLikely benign
Select item 2879336	NM_013247.5(HTRA2):c.78G>A (p.Gly26=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875923	NM_013247.5(HTRA2):c.139dup (p.Arg47fs)	HTRA2 (R47fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2875498	NM_013247.5(HTRA2):c.1341A>G (p.Thr447=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2875486	NM_013247.5(HTRA2):c.843A>G (p.Pro281=)	HTRA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2873515	NM_013247.5(HTRA2):c.1211+16C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2869870	NM_013247.5(HTRA2):c.654C>T (p.Ala218=)	HTRA2, LOC129934142	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868541	NM_013247.5(HTRA2):c.402C>G (p.Ala134=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2863423	NM_013247.5(HTRA2):c.1191C>T (p.Ile397=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2852554	NM_013247.5(HTRA2):c.848G>C (p.Arg283Thr)	HTRA2 (R283T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2846608	NM_013247.5(HTRA2):c.276C>T (p.Thr92=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2838021	NM_013247.5(HTRA2):c.1211+18G>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2826836	NM_013247.5(HTRA2):c.387G>C (p.Pro129=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2814700	NM_013247.5(HTRA2):c.522C>T (p.Gly174=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807832	NM_013247.5(HTRA2):c.1314A>G (p.Ala438=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2800813	NM_013247.5(HTRA2):c.330G>A (p.Ala110=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799594	NM_013247.5(HTRA2):c.711G>C (p.Lys237Asn)	HTRA2 (K237N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2799046	NM_013247.5(HTRA2):c.403_419dup (p.Ala141fs)	HTRA2 (A141fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2797208	NM_013247.5(HTRA2):c.1212-15C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2793181	NM_013247.5(HTRA2):c.1046-11C>G	HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786380	NM_013247.5(HTRA2):c.495G>A (p.Glu165=)	HTRA2, LOC129934140	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784743	NM_013247.5(HTRA2):c.296C>T (p.Ser99Phe)	HTRA2 (S99F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777798	NM_013247.5(HTRA2):c.507-13C>G	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750499	NM_013247.5(HTRA2):c.907-19T>C	HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749086	NM_013247.5(HTRA2):c.514T>G (p.Phe172Val)	HTRA2 (F172V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749044	NM_013247.5(HTRA2):c.1116-8A>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2714154	NM_013247.5(HTRA2):c.315G>A (p.Ala105=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2714136	NM_013247.5(HTRA2):c.507-16T>C	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708383	NM_013247.5(HTRA2):c.506G>A (p.Arg169Gln)	HTRA2, LOC129934140 (R169Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651076	NM_013247.5(HTRA2):c.991T>G (p.Phe331Val)	HTRA2 (F266V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2593467	NM_181575.5(AUP1):c.94G>T (p.Ala32Ser)	AUP1, HTRA2 (A32S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2581718	NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu)	HTRA2, LOXL3 (V391E)	Single nucleotide variant (missense variant +3 more)	Leigh syndrome	GUncertain significance
Select item 2581717	NM_013247.5(HTRA2):c.1037A>T (p.Glu346Val)	HTRA2 (E281V +2 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 2555492	NM_013247.5(HTRA2):c.465G>C (p.Glu155Asp)	HTRA2 (E155D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542836	NM_181575.5(AUP1):c.10C>G (p.Pro4Ala)	AUP1, HTRA2 (P4A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522573	NM_181575.5(AUP1):c.67T>G (p.Phe23Val)	AUP1, HTRA2 (F23V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2494446	NM_013247.5(HTRA2):c.1055C>G (p.Ser352Cys)	HTRA2 (S362C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425831	NC_000002.11:g.(?_74753829)_(74757416_?)del	AUP1, HTRA2	Deletion	not provided	GPathogenic
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2421717	NM_013247.5(HTRA2):c.1334G>A (p.Arg445Gln)	HTRA2, LOXL3 (R348Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2413795	NM_013247.5(HTRA2):c.907-7C>G	HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2307421	NM_013247.5(HTRA2):c.316T>A (p.Trp106Arg)	HTRA2 (W106R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284291	NM_181575.5(AUP1):c.88C>T (p.Leu30Phe)	AUP1, HTRA2 (L30F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2279126	NM_013247.5(HTRA2):c.1019A>G (p.Glu340Gly)	HTRA2 (E340G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232161	NM_181575.5(AUP1):c.76C>T (p.Leu26Phe)	AUP1, HTRA2 (L26F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2230614	NM_013247.5(HTRA2):c.1076G>A (p.Arg359Gln)	HTRA2 (R359Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216649	NM_013247.5(HTRA2):c.131C>G (p.Ser44Cys)	HTRA2 (S44C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203108	NM_013247.5(HTRA2):c.106C>T (p.Arg36Trp)	HTRA2 (R36W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191414	NM_013247.5(HTRA2):c.1052C>T (p.Ser351Phe)	HTRA2 (S286F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189530	NM_013247.5(HTRA2):c.239G>T (p.Arg80Leu)	HTRA2 (R80L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2188914	NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)	HTRA2, LOC129934143 (R252Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2185155	NM_013247.5(HTRA2):c.1243G>A (p.Ala415Thr)	HTRA2, LOXL3 (A393T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2178639	NM_013247.5(HTRA2):c.1078C>T (p.Arg360Cys)	HTRA2 (R295C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172222	NM_013247.5(HTRA2):c.87C>T (p.Pro29=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2145555	NM_013247.5(HTRA2):c.885T>C (p.Ile295=)	HTRA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2128177	NM_013247.5(HTRA2):c.536T>C (p.Ile179Thr)	HTRA2, LOC129934141 (I179T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122623	NM_013247.5(HTRA2):c.940-10A>G	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2121502	NM_013247.5(HTRA2):c.111C>T (p.Ala37=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2116947	NM_013247.5(HTRA2):c.1046-12C>T	HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111166	NM_013247.5(HTRA2):c.1045+7C>T	HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111165	NM_013247.5(HTRA2):c.1045+6_1045+7insT	HTRA2	Insertion (intron variant)	not provided	GLikely benign
Select item 2109696	NM_013247.5(HTRA2):c.720C>G (p.Leu240=)	HTRA2, LOC129934143	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2103560	NM_013247.5(HTRA2):c.852C>T (p.Asp284=)	HTRA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2103052	NM_013247.5(HTRA2):c.360G>T (p.Leu120Phe)	HTRA2 (L120F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101083	NM_013247.5(HTRA2):c.1211+12G>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2085877	NM_013247.5(HTRA2):c.416C>A (p.Pro139Gln)	HTRA2 (P139Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084785	NM_013247.5(HTRA2):c.807G>A (p.Thr269=)	HTRA2, LOC129934143	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2075252	NM_013247.5(HTRA2):c.305G>A (p.Arg102His)	HTRA2 (R102H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074634	NM_013247.5(HTRA2):c.174G>T (p.Trp58Cys)	HTRA2 (W58C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072873	NM_013247.5(HTRA2):c.1067G>A (p.Gly356Glu)	HTRA2 (G356E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066592	NM_013247.5(HTRA2):c.1010G>A (p.Arg337His)	HTRA2 (R347H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 3