ClinVar for Gene (Select 8500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309119	NM_003626.5(PPFIA1):c.3008G>A (p.Arg1003Gln)	CTTN-DT, PPFIA1 (R1003Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3309118	NM_003626.5(PPFIA1):c.2477C>G (p.Ala826Gly)	PPFIA1 (A826G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309117	NM_003626.5(PPFIA1):c.820G>A (p.Ala274Thr)	LOC105369373, PPFIA1 (A274T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309116	NM_003626.5(PPFIA1):c.612G>A (p.Met204Ile)	LOC105369373, PPFIA1 (M204I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309115	NM_003626.5(PPFIA1):c.2554G>A (p.Ala852Thr)	PPFIA1 (A852T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309114	NM_003626.5(PPFIA1):c.2095C>T (p.Arg699Cys)	PPFIA1 (R724C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309113	NM_003626.5(PPFIA1):c.1805A>G (p.Asp602Gly)	PPFIA1 (D602G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309111	NM_003626.5(PPFIA1):c.3358A>T (p.Met1120Leu)	CTTN-DT, PPFIA1 (M1185L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309110	NM_003626.5(PPFIA1):c.485A>G (p.Lys162Arg)	LOC105369373, PPFIA1 (K162R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3234479	NM_003626.5(PPFIA1):c.600C>T (p.His200=)	LOC105369373, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3217095	NM_003626.5(PPFIA1):c.659T>C (p.Val220Ala)	LOC105369373, PPFIA1 (V220A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217094	NM_003626.5(PPFIA1):c.3546G>A (p.Met1182Ile)	CTTN-DT, PPFIA1 (M1182I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217093	NM_003626.5(PPFIA1):c.3374G>A (p.Arg1125Lys)	CTTN-DT, PPFIA1 (R1190K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217092	NM_003626.5(PPFIA1):c.3320G>A (p.Arg1107His)	CTTN-DT, PPFIA1 (R1172H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217091	NM_003626.5(PPFIA1):c.3302C>T (p.Thr1101Met)	CTTN-DT, PPFIA1 (T1166M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217090	NM_003626.5(PPFIA1):c.3096A>C (p.Lys1032Asn)	CTTN-DT, PPFIA1 (K1032N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3217089	NM_003626.5(PPFIA1):c.3086A>G (p.Tyr1029Cys)	CTTN-DT, PPFIA1 (Y1029C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3217088	NM_003626.5(PPFIA1):c.3040A>G (p.Arg1014Gly)	CTTN-DT, PPFIA1 (R1079G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3217087	NM_003626.5(PPFIA1):c.2872G>A (p.Ala958Thr)	CTTN-DT, PPFIA1 (A1023T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3217086	NM_003626.5(PPFIA1):c.2342T>G (p.Val781Gly)	PPFIA1 (V816G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217084	NM_003626.5(PPFIA1):c.2155A>G (p.Met719Val)	PPFIA1 (M719V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217083	NM_003626.5(PPFIA1):c.205C>T (p.His69Tyr)	PPFIA1 (H69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217082	NM_003626.5(PPFIA1):c.1793C>T (p.Ala598Val)	PPFIA1 (A598V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3217081	NM_003626.5(PPFIA1):c.1687C>G (p.Leu563Val)	PPFIA1 (L563V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217080	NM_003626.5(PPFIA1):c.1672G>C (p.Gly558Arg)	PPFIA1 (G583R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217079	NM_003626.5(PPFIA1):c.1670A>G (p.Lys557Arg)	PPFIA1 (K557R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217078	NM_003626.5(PPFIA1):c.1574G>A (p.Arg525Gln)	PPFIA1 (R550Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060161	NM_003626.5(PPFIA1):c.1620C>T (p.Asp540=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3059748	NM_003626.5(PPFIA1):c.3315+5C>T	CTTN-DT, PPFIA1	Single nucleotide variant (intron variant)	PPFIA1-related disorder	GBenign
Select item 3059202	NM_003626.5(PPFIA1):c.2286C>T (p.Val762=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3058723	NM_003626.5(PPFIA1):c.2315+9C>T	PPFIA1	Single nucleotide variant (intron variant)	PPFIA1-related disorder	GLikely benign
Select item 3058574	NM_003626.5(PPFIA1):c.9C>T (p.Cys3=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3058448	NM_003626.5(PPFIA1):c.132A>G (p.Leu44=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3058077	NM_003626.5(PPFIA1):c.3351T>C (p.Leu1117=)	CTTN-DT, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3057155	NM_003626.5(PPFIA1):c.1849C>T (p.Leu617=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3055877	NM_003626.5(PPFIA1):c.211G>A (p.Val71Ile)	PPFIA1 (V71I)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3053290	NM_003626.5(PPFIA1):c.1523G>A (p.Arg508Lys)	PPFIA1 (R508K +1 more)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3052978	NM_003626.5(PPFIA1):c.3139+9A>C	CTTN-DT, PPFIA1	Single nucleotide variant (intron variant)	PPFIA1-related disorder	GLikely benign
Select item 3052327	NM_003626.5(PPFIA1):c.2064G>C (p.Ser688=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3051857	NM_003626.5(PPFIA1):c.1869C>T (p.Ala623=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3050455	NM_003626.5(PPFIA1):c.3550+17A>G	CTTN-DT, PPFIA1	Single nucleotide variant (3 prime UTR variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3050289	NM_003626.5(PPFIA1):c.2451C>T (p.Gly817=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3048351	NM_003626.5(PPFIA1):c.1297-4_1297-3dup	PPFIA1	Duplication (intron variant)	PPFIA1-related disorder	GLikely benign
Select item 3048088	NM_003626.5(PPFIA1):c.1085A>G (p.Asp362Gly)	PPFIA1 (D362G)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3045161	NM_003626.5(PPFIA1):c.3234C>T (p.His1078=)	CTTN-DT, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3044443	NM_003626.5(PPFIA1):c.3276A>G (p.Ala1092=)	CTTN-DT, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3044332	NM_003626.5(PPFIA1):c.1132C>T (p.Leu378=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3038874	NM_003626.5(PPFIA1):c.87G>T (p.Gln29His)	PPFIA1 (Q29H)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3035612	NM_003626.5(PPFIA1):c.1203G>A (p.Ala401=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3034227	NM_003626.5(PPFIA1):c.1305A>G (p.Gln435=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3034190	NM_003626.5(PPFIA1):c.867G>A (p.Thr289=)	LOC105369373, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3031918	NM_003626.5(PPFIA1):c.180G>C (p.Thr60=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642066	NM_003626.5(PPFIA1):c.2442A>G (p.Lys814=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642065	NM_003626.5(PPFIA1):c.2421T>C (p.Ile807=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642064	NM_003626.5(PPFIA1):c.2409T>C (p.Ile803=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642063	NM_003626.5(PPFIA1):c.2403A>G (p.Lys801=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642062	NM_003626.5(PPFIA1):c.2382C>G (p.Leu794=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642061	NM_003626.5(PPFIA1):c.2367T>C (p.Ser789=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642060	NM_003626.5(PPFIA1):c.2358T>C (p.Ser786=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642059	NM_003626.5(PPFIA1):c.2346C>T (p.Ser782=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642058	NM_003626.5(PPFIA1):c.2337T>C (p.Gly779=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642057	NM_003626.5(PPFIA1):c.2334T>C (p.Asp778=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642056	NM_003626.5(PPFIA1):c.2328C>T (p.Ser776=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642055	NM_003626.5(PPFIA1):c.1701T>A (p.Pro567=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642054	NM_003626.5(PPFIA1):c.1692A>C (p.Arg564=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642053	NM_003626.5(PPFIA1):c.1686C>G (p.Ala562=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642052	NM_003626.5(PPFIA1):c.1665A>C (p.Pro555=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2635095	NM_003626.5(PPFIA1):c.2822T>C (p.Ile941Thr)	PPFIA1 (I941T +1 more)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GUncertain significance
Select item 2619260	NM_003626.5(PPFIA1):c.197G>T (p.Gly66Val)	PPFIA1 (G66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618364	NM_003626.5(PPFIA1):c.2248C>T (p.Arg750Trp)	PPFIA1 (R785W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606064	NM_003626.5(PPFIA1):c.2378C>T (p.Ser793Leu)	PPFIA1 (S793L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605564	NM_003626.5(PPFIA1):c.2908G>A (p.Glu970Lys)	CTTN-DT, PPFIA1 (E970K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2599628	NM_003626.5(PPFIA1):c.3007C>G (p.Arg1003Gly)	CTTN-DT, PPFIA1 (R1003G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2598995	NM_003626.5(PPFIA1):c.1874C>T (p.Ala625Val)	PPFIA1 (A625V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2576174	NM_003626.5(PPFIA1):c.691C>A (p.Pro231Thr)	LOC105369373, PPFIA1 (P231T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576142	NM_003626.5(PPFIA1):c.3428A>C (p.Lys1143Thr)	CTTN-DT, PPFIA1 (K1143T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2559936	NM_003626.5(PPFIA1):c.2971G>C (p.Ala991Pro)	CTTN-DT, PPFIA1 (A991P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547881	NM_003626.5(PPFIA1):c.1270G>A (p.Glu424Lys)	PPFIA1 (E424K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546315	NM_003626.5(PPFIA1):c.2941C>T (p.Arg981Cys)	CTTN-DT, PPFIA1 (R1046C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540377	NM_003626.5(PPFIA1):c.1540A>G (p.Met514Val)	PPFIA1 (M514V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538745	NM_003626.5(PPFIA1):c.1798G>C (p.Val600Leu)	PPFIA1 (V625L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533132	NM_003626.5(PPFIA1):c.2576A>G (p.Gln859Arg)	PPFIA1 (Q894R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532852	NM_003626.5(PPFIA1):c.2195A>T (p.Asp732Val)	PPFIA1 (D767V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524047	NM_003626.5(PPFIA1):c.2746G>A (p.Asp916Asn)	PPFIA1 (D951N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508777	NM_003626.5(PPFIA1):c.1660C>T (p.Arg554Cys)	PPFIA1 (R554C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490410	NM_003626.5(PPFIA1):c.3142G>T (p.Val1048Leu)	CTTN-DT, PPFIA1 (V1048L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489551	NM_003626.5(PPFIA1):c.64C>T (p.His22Tyr)	PPFIA1 (H22Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483047	NM_003626.5(PPFIA1):c.1929C>G (p.Ile643Met)	PPFIA1 (I643M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477011	NM_003626.5(PPFIA1):c.179C>T (p.Thr60Met)	PPFIA1 (T60M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476151	NM_003626.5(PPFIA1):c.2870T>C (p.Leu957Pro)	CTTN-DT, PPFIA1 (L1022P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475078	NM_003626.5(PPFIA1):c.3212A>G (p.Asn1071Ser)	CTTN-DT, PPFIA1 (N1071S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474920	NM_003626.5(PPFIA1):c.3545T>G (p.Met1182Arg)	CTTN-DT, PPFIA1 (M1182R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469833	NM_003626.5(PPFIA1):c.1549A>G (p.Arg517Gly)	PPFIA1 (R542G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468077	NM_003626.5(PPFIA1):c.698C>T (p.Thr233Met)	LOC105369373, PPFIA1 (T233M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465083	NM_003626.5(PPFIA1):c.2249G>A (p.Arg750Gln)	PPFIA1 (R785Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459892	NM_003626.5(PPFIA1):c.2249G>T (p.Arg750Leu)	PPFIA1 (R750L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397290	NM_003626.5(PPFIA1):c.2866A>G (p.Thr956Ala)	CTTN-DT, PPFIA1 (T1021A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395757	NM_003626.5(PPFIA1):c.2866A>C (p.Thr956Pro)	CTTN-DT, PPFIA1 (T1021P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395659	NM_003626.5(PPFIA1):c.3134T>G (p.Ile1045Arg)	CTTN-DT, PPFIA1 (I1045R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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