9245[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 2222321	NM_003626.5(PPFIA1):c.653A>G (p.Asp218Gly)	LOC105369373, PPFIA1 (D218G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 2386065	NM_003626.5(PPFIA1):c.725C>T (p.Ser242Phe)	LOC105369373, PPFIA1 (S242F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343564	NM_003626.5(PPFIA1):c.730A>C (p.Ser244Arg)	LOC105369373, PPFIA1 (S244R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290106	NM_003626.5(PPFIA1):c.790A>G (p.Arg264Gly)	LOC105369373, PPFIA1 (R264G)	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 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 2337301	NM_003626.5(PPFIA1):c.1031A>T (p.Asp344Val)	PPFIA1 (D344V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2390684	NM_003626.5(PPFIA1):c.1109G>A (p.Arg370His)	PPFIA1 (R370H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329168	NM_003626.5(PPFIA1):c.1127A>G (p.Gln376Arg)	PPFIA1 (Q376R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3048351	NM_003626.5(PPFIA1):c.1297-4_1297-3dup	PPFIA1	Duplication (intron variant)	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 2310635	NM_003626.5(PPFIA1):c.1348A>G (p.Thr450Ala)	PPFIA1 (T475A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 2307993	NM_003626.5(PPFIA1):c.1602C>G (p.Phe534Leu)	PPFIA1 (F534L +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 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 2642052	NM_003626.5(PPFIA1):c.1665A>C (p.Pro555=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2362736	NM_003626.5(PPFIA1):c.1675C>T (p.Arg559Trp)	PPFIA1 (R559W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2642054	NM_003626.5(PPFIA1):c.1692A>C (p.Arg564=)	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 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 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 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 3057155	NM_003626.5(PPFIA1):c.1849C>T (p.Leu617=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
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 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 2288924	NM_003626.5(PPFIA1):c.1912G>A (p.Ala638Thr)	PPFIA1 (A638T +1 more)	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 2250329	NM_003626.5(PPFIA1):c.2020C>T (p.Arg674Cys)	PPFIA1 (R699C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387666	NM_003626.5(PPFIA1):c.2032A>G (p.Met678Val)	PPFIA1 (M678V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219104	NM_003626.5(PPFIA1):c.2048C>T (p.Pro683Leu)	PPFIA1 (P708L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2361489	NM_003626.5(PPFIA1):c.2096G>A (p.Arg699His)	PPFIA1 (R724H +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 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 2308590	NM_003626.5(PPFIA1):c.2218A>G (p.Thr740Ala)	PPFIA1 (T775A +1 more)	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 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 779205	NM_003626.5(PPFIA1):c.2273C>T (p.Ala758Val)	PPFIA1 (A758V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2298301	NM_003626.5(PPFIA1):c.2303G>A (p.Arg768Lys)	PPFIA1 (R768K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058723	NM_003626.5(PPFIA1):c.2315+9C>T	PPFIA1	Single nucleotide variant (intron variant)	PPFIA1-related disorder	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 2642057	NM_003626.5(PPFIA1):c.2334T>C (p.Asp778=)	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 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 2642059	NM_003626.5(PPFIA1):c.2346C>T (p.Ser782=)	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 2642061	NM_003626.5(PPFIA1):c.2367T>C (p.Ser789=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2642062	NM_003626.5(PPFIA1):c.2382C>G (p.Leu794=)	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 2642064	NM_003626.5(PPFIA1):c.2409T>C (p.Ile803=)	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 2642066	NM_003626.5(PPFIA1):c.2442A>G (p.Lys814=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2391131	NM_003626.5(PPFIA1):c.2569A>G (p.Lys857Glu)	PPFIA1 (K857E +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 2204598	NM_003626.5(PPFIA1):c.2735C>T (p.Ser912Leu)	PPFIA1 (S947L +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 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 2262366	NM_003626.5(PPFIA1):c.2840C>T (p.Pro947Leu)	PPFIA1 (P947L +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 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 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 779206	NM_003626.5(PPFIA1):c.2892C>T (p.His964=)	CTTN-DT, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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

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