ClinVar for Gene (Select 9600) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306732	NM_004910.3(PITPNM1):c.3679A>G (p.Thr1227Ala)	PITPNM1 (T1226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306730	NM_004910.3(PITPNM1):c.987C>G (p.Ser329Arg)	PITPNM1 (S329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306729	NM_004910.3(PITPNM1):c.3716A>C (p.Lys1239Thr)	PITPNM1 (K1239T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306728	NM_004910.3(PITPNM1):c.2965C>T (p.Arg989Cys)	PITPNM1 (R988C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306727	NM_004910.3(PITPNM1):c.1957G>A (p.Ala653Thr)	PITPNM1 (A653T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306726	NM_004910.3(PITPNM1):c.2755A>T (p.Asn919Tyr)	PITPNM1 (N919Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306725	NM_004910.3(PITPNM1):c.844G>A (p.Ala282Thr)	PITPNM1 (A282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306724	NM_004910.3(PITPNM1):c.1769G>A (p.Arg590His)	PITPNM1 (R590H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306723	NM_004910.3(PITPNM1):c.2573A>C (p.His858Pro)	PITPNM1 (H857P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306722	NM_004910.3(PITPNM1):c.3077G>C (p.Ser1026Thr)	PITPNM1 (S1025T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213257	NM_004910.3(PITPNM1):c.815G>A (p.Gly272Glu)	PITPNM1 (G272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213256	NM_004910.3(PITPNM1):c.670C>T (p.Arg224Cys)	PITPNM1 (R224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213255	NM_004910.3(PITPNM1):c.538G>A (p.Ala180Thr)	PITPNM1 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213254	NM_004910.3(PITPNM1):c.533G>A (p.Arg178Gln)	PITPNM1 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213253	NM_004910.3(PITPNM1):c.3620T>C (p.Leu1207Pro)	PITPNM1 (L1206P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213252	NM_004910.3(PITPNM1):c.3493G>T (p.Ala1165Ser)	PITPNM1 (A1164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213251	NM_004910.3(PITPNM1):c.2638G>C (p.Glu880Gln)	PITPNM1 (E880Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213249	NM_004910.3(PITPNM1):c.2455C>G (p.Pro819Ala)	PITPNM1 (P819A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213248	NM_004910.3(PITPNM1):c.2452G>A (p.Ala818Thr)	PITPNM1 (A817T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213247	NM_004910.3(PITPNM1):c.2399G>T (p.Gly800Val)	PITPNM1 (G800V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213246	NM_004910.3(PITPNM1):c.2273G>A (p.Arg758His)	PITPNM1 (R758H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213245	NM_004910.3(PITPNM1):c.2249C>A (p.Ala750Asp)	PITPNM1 (A749D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213244	NM_004910.3(PITPNM1):c.2137G>A (p.Ala713Thr)	PITPNM1 (A713T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213243	NM_004910.3(PITPNM1):c.1882C>T (p.Pro628Ser)	PITPNM1 (P628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213242	NM_004910.3(PITPNM1):c.1824C>A (p.Asp608Glu)	PITPNM1 (D608E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213240	NM_004910.3(PITPNM1):c.1579C>T (p.Arg527Cys)	PITPNM1 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213239	NM_004910.3(PITPNM1):c.1465G>A (p.Ala489Thr)	PITPNM1 (A489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213238	NM_004910.3(PITPNM1):c.1136C>A (p.Ala379Asp)	PITPNM1 (A379D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213237	NM_004910.3(PITPNM1):c.1099G>A (p.Glu367Lys)	PITPNM1 (E367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213236	NM_004910.3(PITPNM1):c.1057G>A (p.Ala353Thr)	PITPNM1 (A353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213234	NM_004910.3(PITPNM1):c.1001G>A (p.Arg334His)	PITPNM1 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
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 2642023	NM_004910.3(PITPNM1):c.2967C>A (p.Arg989=)	PITPNM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642022	NM_004910.3(PITPNM1):c.3540G>A (p.Ser1180=)	PITPNM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610418	NM_004910.3(PITPNM1):c.1904A>C (p.Asp635Ala)	PITPNM1 (D635A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607956	NM_004910.3(PITPNM1):c.146C>T (p.Thr49Met)	PITPNM1 (T49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600155	NM_004910.3(PITPNM1):c.2866G>A (p.Val956Ile)	PITPNM1 (V955I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558288	NM_004910.3(PITPNM1):c.586G>A (p.Glu196Lys)	PITPNM1 (E196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556363	NM_004910.3(PITPNM1):c.1594G>A (p.Val532Met)	PITPNM1 (V532M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552189	NM_004910.3(PITPNM1):c.1687G>A (p.Gly563Arg)	PITPNM1 (G563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537388	NM_004910.3(PITPNM1):c.1336G>A (p.Ala446Thr)	PITPNM1 (A446T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2532942	NM_004910.3(PITPNM1):c.749G>A (p.Arg250His)	PITPNM1 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524264	NM_004910.3(PITPNM1):c.1825C>T (p.Pro609Ser)	PITPNM1 (P609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512042	NM_004910.3(PITPNM1):c.3729G>C (p.Glu1243Asp)	PITPNM1 (E1243D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511054	NM_004910.3(PITPNM1):c.569A>G (p.Tyr190Cys)	PITPNM1 (Y190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495182	NM_004910.3(PITPNM1):c.3242C>T (p.Ser1081Leu)	PITPNM1 (S1081L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492324	NM_004910.3(PITPNM1):c.1270T>C (p.Cys424Arg)	PITPNM1 (C424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484131	NM_004910.3(PITPNM1):c.938C>G (p.Ser313Cys)	PITPNM1 (S313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476175	NM_004910.3(PITPNM1):c.2159G>A (p.Arg720His)	PITPNM1 (R720H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465933	NM_004910.3(PITPNM1):c.1985G>A (p.Arg662Gln)	PITPNM1 (R662Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463799	NM_004910.3(PITPNM1):c.1019G>A (p.Arg340Gln)	PITPNM1 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454380	NM_004910.3(PITPNM1):c.989T>G (p.Leu330Trp)	PITPNM1 (L330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2406093	NM_004910.3(PITPNM1):c.1742C>T (p.Ala581Val)	PITPNM1 (A581V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401957	NM_004910.3(PITPNM1):c.3518G>C (p.Gly1173Ala)	PITPNM1 (G1172A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398982	NM_004910.3(PITPNM1):c.1678G>A (p.Ala560Thr)	PITPNM1 (A560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398731	NM_004910.3(PITPNM1):c.2237C>T (p.Pro746Leu)	PITPNM1 (P746L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393659	NM_004910.3(PITPNM1):c.836G>A (p.Arg279Gln)	PITPNM1 (R279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392963	NM_004910.3(PITPNM1):c.814G>A (p.Gly272Arg)	PITPNM1 (G272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392064	NM_004910.3(PITPNM1):c.161G>A (p.Gly54Asp)	PITPNM1 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382200	NM_004910.3(PITPNM1):c.1523G>A (p.Arg508His)	PITPNM1 (R508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375117	NM_004910.3(PITPNM1):c.1462G>A (p.Ala488Thr)	PITPNM1 (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374650	NM_004910.3(PITPNM1):c.1273G>A (p.Ala425Thr)	PITPNM1 (A425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365276	NM_004910.3(PITPNM1):c.1741G>A (p.Ala581Thr)	PITPNM1 (A581T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361552	NM_004910.3(PITPNM1):c.1757G>A (p.Arg586Gln)	PITPNM1 (R586Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357477	NM_004910.3(PITPNM1):c.2240A>G (p.Lys747Arg)	PITPNM1 (K746R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347527	NM_004910.3(PITPNM1):c.2455C>T (p.Pro819Ser)	PITPNM1 (P818S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343271	NM_004910.3(PITPNM1):c.3514G>A (p.Ala1172Thr)	PITPNM1 (A1172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341551	NM_004910.3(PITPNM1):c.2956C>G (p.Pro986Ala)	PITPNM1 (P985A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331547	NM_004910.3(PITPNM1):c.1079G>C (p.Ser360Thr)	PITPNM1 (S360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327244	NM_004910.3(PITPNM1):c.2446C>T (p.Pro816Ser)	PITPNM1 (P816S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321033	NM_004910.3(PITPNM1):c.2738T>C (p.Ile913Thr)	PITPNM1 (I912T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312819	NM_004910.3(PITPNM1):c.433C>T (p.Arg145Trp)	PITPNM1 (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308124	NM_004910.3(PITPNM1):c.2657T>G (p.Leu886Arg)	PITPNM1 (L886R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305945	NM_004910.3(PITPNM1):c.997T>C (p.Trp333Arg)	PITPNM1 (W333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303532	NM_004910.3(PITPNM1):c.3605G>A (p.Arg1202His)	PITPNM1 (R1202H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301093	NM_004910.3(PITPNM1):c.434G>A (p.Arg145Gln)	PITPNM1 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297404	NM_004910.3(PITPNM1):c.650G>A (p.Arg217Gln)	PITPNM1 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291366	NM_004910.3(PITPNM1):c.1591G>A (p.Ala531Thr)	PITPNM1 (A531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266574	NM_004910.3(PITPNM1):c.1381G>A (p.Glu461Lys)	PITPNM1 (E461K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258739	NM_004910.3(PITPNM1):c.2023G>C (p.Glu675Gln)	PITPNM1 (E675Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243880	NM_004910.3(PITPNM1):c.736G>C (p.Glu246Gln)	PITPNM1 (E246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241862	NM_004910.3(PITPNM1):c.2918A>G (p.Glu973Gly)	PITPNM1 (E972G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233664	NM_004910.3(PITPNM1):c.3680C>A (p.Thr1227Asn)	PITPNM1 (T1226N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232620	NM_004910.3(PITPNM1):c.3617A>G (p.Gln1206Arg)	PITPNM1 (Q1206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228284	NM_004910.3(PITPNM1):c.2481G>C (p.Lys827Asn)	PITPNM1 (K827N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217709	NM_004910.3(PITPNM1):c.1924G>A (p.Glu642Lys)	PITPNM1 (E642K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211687	NM_004910.3(PITPNM1):c.1891C>T (p.Arg631Cys)	PITPNM1 (R631C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211047	NM_004910.3(PITPNM1):c.2968G>A (p.Ala990Thr)	PITPNM1 (A990T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207218	NM_004910.3(PITPNM1):c.898T>G (p.Ser300Ala)	PITPNM1 (S300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 789040	NM_004910.3(PITPNM1):c.114C>T (p.Ser38=)	PITPNM1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776894	NM_004910.3(PITPNM1):c.2648G>A (p.Arg883Gln)	PITPNM1 (R883Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 740259	NM_004910.3(PITPNM1):c.3559T>C (p.Leu1187=)	PITPNM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736192	NM_004910.3(PITPNM1):c.3630G>A (p.Ser1210=)	PITPNM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727130	NM_004910.3(PITPNM1):c.897C>T (p.Ala299=)	PITPNM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709254	NM_004910.3(PITPNM1):c.1726T>C (p.Cys576Arg)	PITPNM1 (C576R)	Single nucleotide variant (missense variant)	not provided	GBenign

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