ClinVar for MedGen (Select 854829) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1269

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954517	NM_022168.4(IFIH1):c.2818A>T (p.Ile940Phe)	IFIH1 (I940F)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2954464	NM_022168.4(IFIH1):c.1299A>G (p.Gln433=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2954353	NM_022168.4(IFIH1):c.1917A>T (p.Ala639=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2954184	NM_022168.4(IFIH1):c.2614A>C (p.Lys872Gln)	IFIH1 (K872Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2954182	NM_022168.4(IFIH1):c.511A>C (p.Ile171Leu)	IFIH1 (I171L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2954111	NM_022168.4(IFIH1):c.1894G>A (p.Glu632Lys)	IFIH1 (E632K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2954000	NM_022168.4(IFIH1):c.1765+2T>C	IFIH1	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2953967	NM_022168.4(IFIH1):c.1765+7T>G	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2953675	NM_022168.4(IFIH1):c.2261T>A (p.Leu754Gln)	IFIH1 (L754Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2953671	NM_022168.4(IFIH1):c.770-10del	IFIH1	Deletion (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GBenign
Select item 2953621	NM_022168.4(IFIH1):c.2287T>C (p.Phe763Leu)	IFIH1 (F763L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2953505	NM_022168.4(IFIH1):c.2044+15A>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2953425	NM_022168.4(IFIH1):c.1524+10A>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2953406	NM_022168.4(IFIH1):c.1306+17del	IFIH1	Deletion (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952973	NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)	IFIH1 (S104A)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2952847	NM_022168.4(IFIH1):c.454-17A>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952748	NM_022168.4(IFIH1):c.2687A>C (p.Tyr896Ser)	IFIH1 (Y896S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2952678	NM_022168.4(IFIH1):c.1766-9_1766-8insCAC	IFIH1	Insertion (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952677	NM_022168.4(IFIH1):c.1766-6T>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952676	NM_022168.4(IFIH1):c.1766-4_1766-3insATAAT	IFIH1	Insertion (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952671	NM_022168.4(IFIH1):c.1200T>A (p.Phe400Leu)	IFIH1 (F400L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2952653	NM_022168.4(IFIH1):c.2632_2639del (p.Met878fs)	IFIH1 (M878fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952466	NM_022168.4(IFIH1):c.48G>T (p.Ser16=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952462	NM_022168.4(IFIH1):c.2045-15A>T	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952437	NM_022168.4(IFIH1):c.2455-6T>C	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2952428	NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)	IFIH1 (G281C)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2952315	NM_022168.4(IFIH1):c.1829C>A (p.Ala610Asp)	IFIH1 (A610D)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2952109	NM_022168.4(IFIH1):c.2707A>T (p.Ile903Leu)	IFIH1 (I903L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2951829	NM_022168.4(IFIH1):c.1641+7G>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2951610	NM_022168.4(IFIH1):c.454-12_454-10del	IFIH1	Deletion (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2951520	NM_022168.4(IFIH1):c.1084C>G (p.Leu362Val)	IFIH1 (L362V)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2951418	NM_022168.4(IFIH1):c.453+11G>T	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2951140	NM_022168.4(IFIH1):c.1869T>C (p.Tyr623=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2951118	NM_022168.4(IFIH1):c.2755G>T (p.Asp919Tyr)	IFIH1 (D919Y)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2951054	NM_022168.4(IFIH1):c.1572C>A (p.Asn524Lys)	IFIH1 (N524K)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2951047	NM_022168.4(IFIH1):c.1751A>T (p.Gln584Leu)	IFIH1 (Q584L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2950932	NM_022168.4(IFIH1):c.2795C>A (p.Thr932Asn)	IFIH1 (T932N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2950901	NM_022168.4(IFIH1):c.1789G>C (p.Glu597Gln)	IFIH1 (E597Q)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2950666	NM_022168.4(IFIH1):c.2515G>C (p.Gly839Arg)	IFIH1 (G839R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2950647	NM_022168.4(IFIH1):c.2277C>T (p.His759=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2950602	NM_022168.4(IFIH1):c.2616+3A>T	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2950504	NM_022168.4(IFIH1):c.1338T>C (p.His446=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2950403	NM_022168.4(IFIH1):c.2454+20C>T	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2950175	NM_022168.4(IFIH1):c.2867T>A (p.Ile956Lys)	IFIH1 (I956K)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2950165	NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)	IFIH1 (G965C)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2950029	NM_022168.4(IFIH1):c.2006T>G (p.Leu669Arg)	IFIH1 (L669R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2949998	NM_022168.4(IFIH1):c.1463C>G (p.Thr488Arg)	IFIH1 (T488R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2949965	NM_022168.4(IFIH1):c.2960T>C (p.Phe987Ser)	IFIH1 (F987S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2949940	NM_022168.4(IFIH1):c.1928A>T (p.Asp643Val)	IFIH1 (D643V)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2949700	NM_022168.4(IFIH1):c.2730C>T (p.Cys910=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2949401	NM_022168.4(IFIH1):c.1345A>C (p.Asn449His)	IFIH1 (N449H)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2949344	NM_022168.4(IFIH1):c.1096-10T>C	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2949097	NM_022168.4(IFIH1):c.1524+5G>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2949000	NM_022168.4(IFIH1):c.1406A>G (p.Asn469Ser)	IFIH1 (N469S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948993	NM_022168.4(IFIH1):c.1099C>G (p.Leu367Val)	IFIH1 (L367V)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948950	NM_022168.4(IFIH1):c.2400A>C (p.Glu800Asp)	IFIH1 (E800D)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948700	NM_022168.4(IFIH1):c.2618T>G (p.Ile873Ser)	IFIH1 (I873S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948458	NM_022168.4(IFIH1):c.2159G>T (p.Arg720Leu)	IFIH1 (R720L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948200	NM_022168.4(IFIH1):c.787G>A (p.Ala263Thr)	IFIH1 (A263T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948165	NM_022168.4(IFIH1):c.3003A>C (p.Lys1001Asn)	IFIH1 (K1001N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948139	NM_022168.4(IFIH1):c.602A>C (p.Asp201Ala)	IFIH1 (D201A)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948104	NM_022168.4(IFIH1):c.2686del (p.Tyr896fs)	IFIH1 (Y896fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2948051	NM_022168.4(IFIH1):c.1864G>A (p.Ala622Thr)	IFIH1 (A622T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2948024	NM_022168.4(IFIH1):c.1484G>C (p.Gly495Ala)	IFIH1 (G495A)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2947997	NM_022168.4(IFIH1):c.2277C>A (p.His759Gln)	IFIH1 (H759Q)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2947976	NM_022168.4(IFIH1):c.238G>A (p.Val80Met)	IFIH1 (V80M)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2947818	NM_022168.4(IFIH1):c.1646del (p.Pro549fs)	IFIH1 (P549fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2947696	NM_022168.4(IFIH1):c.1846A>C (p.Thr616Pro)	IFIH1 (T616P)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2947563	NM_022168.4(IFIH1):c.1861G>T (p.Asp621Tyr)	IFIH1 (D621Y)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2947423	NM_022168.4(IFIH1):c.1731C>T (p.Pro577=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2947179	NM_022168.4(IFIH1):c.1388T>G (p.Met463Arg)	IFIH1 (M463R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2946857	NM_022168.4(IFIH1):c.899C>T (p.Ala300Val)	IFIH1 (A300V)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2946604	NM_022168.4(IFIH1):c.2454+6T>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2946579	NM_022168.4(IFIH1):c.874+14G>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2946368	NM_022168.4(IFIH1):c.2066G>A (p.Arg689Lys)	IFIH1 (R689K)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2946331	NM_022168.4(IFIH1):c.259G>A (p.Gly87Ser)	IFIH1 (G87S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2946322	NM_022168.4(IFIH1):c.2862T>C (p.Tyr954=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2946224	NM_022168.4(IFIH1):c.227C>T (p.Thr76Ile)	IFIH1 (T76I)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2946219	NM_022168.4(IFIH1):c.1540G>C (p.Asp514His)	IFIH1 (D514H)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2946088	NM_022168.4(IFIH1):c.54C>G (p.Phe18Leu)	IFIH1 (F18L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2946045	NM_022168.4(IFIH1):c.462del (p.Ala155fs)	IFIH1 (A155fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2945992	NM_022168.4(IFIH1):c.240G>C (p.Val80=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2945982	NM_022168.4(IFIH1):c.538G>A (p.Ala180Thr)	IFIH1 (A180T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2945961	NM_022168.4(IFIH1):c.1405A>G (p.Asn469Asp)	IFIH1 (N469D)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2945838	NM_022168.4(IFIH1):c.421G>A (p.Glu141Lys)	IFIH1 (E141K)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2945762	NM_022168.4(IFIH1):c.1766-16A>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2945733	NM_022168.4(IFIH1):c.1323C>T (p.Ile441=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2945307	NM_022168.4(IFIH1):c.1641+19A>T	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2945225	NM_022168.4(IFIH1):c.2304+11C>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2945142	NM_022168.4(IFIH1):c.1001del (p.Gly334fs)	IFIH1 (G334fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2944869	NM_022168.4(IFIH1):c.1787A>G (p.Lys596Arg)	IFIH1 (K596R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2944793	NM_022168.4(IFIH1):c.1674G>A (p.Met558Ile)	IFIH1 (M558I)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2944694	NM_022168.4(IFIH1):c.2587A>G (p.Asn863Asp)	IFIH1 (N863D)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2944693	NM_022168.4(IFIH1):c.606C>T (p.Cys202=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2944632	NM_022168.4(IFIH1):c.690G>A (p.Gln230=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2944604	NM_022168.4(IFIH1):c.1085T>C (p.Leu362Pro)	IFIH1 (L362P)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2944597	NM_022168.4(IFIH1):c.448_453+39del	IFIH1	Deletion (splice donor variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2944518	NM_022168.4(IFIH1):c.11G>C (p.Gly4Ala)	IFIH1 (G4A)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2944491	NM_022168.4(IFIH1):c.1567G>C (p.Glu523Gln)	IFIH1 (E523Q)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2944419	NM_022168.4(IFIH1):c.227_233del (p.Thr76fs)	IFIH1 (T76fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign

<< First< Prev

Page of 13