p.Pro321Leu[varname] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1476759	NM_001385641.1(SAMD11):c.962C>T (p.Pro321Leu)	SAMD11 (P321L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043143	NM_001385641.1(SAMD11):c.1451C>T (p.Pro484Leu)	SAMD11 (P485L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3202735	NM_006600.4(NUDC):c.962C>T (p.Pro321Leu)	NUDC (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 245998	NM_001048174.2(MUTYH):c.959C>T (p.Pro320Leu)	MUTYH (P348L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 464674	NM_001048174.2(MUTYH):c.917C>T (p.Pro306Leu)	MUTYH (P334L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1952293	NM_017739.4(POMGNT1):c.1391C>T (p.Pro464Leu)	POMGNT1, TSPAN1 (P321L +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GUncertain significance
Select item 2774057	NM_174936.4(PCSK9):c.1337C>T (p.Pro446Leu)	PCSK9 (P427L +5 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 2854744	NM_001374259.2(IL12RB2):c.962C>T (p.Pro321Leu)	IL12RB2 (P321L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2487317	NM_006472.6(TXNIP):c.1127C>T (p.Pro376Leu)	TXNIP (P321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527014	NM_052938.5(FCRL1):c.1079C>T (p.Pro360Leu)	FCRL1 (P360L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480287	NM_001910.4(CTSE):c.962C>T (p.Pro321Leu)	CTSE (R199W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1948502	NM_172351.3(CD46):c.1049C>T (p.Pro350Leu)	CD46 (P335L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 89229	NM_000179.3(MSH6):c.1868C>T (p.Pro623Leu)	MSH6 (P623L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2476778	NM_001386135.1(AFF3):c.962C>T (p.Pro321Leu)	AFF3 (P346L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 568712	NM_000312.4(PROC):c.962C>T (p.Pro321Leu)	PROC (P321L +9 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis +1 more	GPathogenic/Likely pathogenic
Select item 1714404	NM_004482.4(GALNT3):c.962C>T (p.Pro321Leu)	GALNT3 (P321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984645	NM_000817.3(GAD1):c.962C>T (p.Pro321Leu)	GAD1 (P321L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1675833	NM_138395.4(MARS2):c.962C>T (p.Pro321Leu)	MARS2 (P321L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3148982	NM_005048.4(PTH2R):c.962C>T (p.Pro321Leu)	PTH2R (P210L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1994796	NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)	BTD (P341L +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 3163369	NM_001320033.2(SLC22A14):c.962C>T (p.Pro321Leu)	SLC22A14 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187215	NM_001199161.2(USP19):c.1310C>T (p.Pro437Leu)	USP19 (P323L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2009125	NM_004656.4(BAP1):c.1016C>T (p.Pro339Leu)	BAP1 (P321L +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2225907	NM_014366.5(GNL3):c.998C>T (p.Pro333Leu)	GNL3 (P321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2989565	NM_001457.4(FLNB):c.962C>T (p.Pro321Leu)	FLNB (P321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638449	NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)	PDHB (P321L +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 800541	NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu)	MITF (P286L +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 769624	NM_000412.5(HRG):c.962C>T (p.Pro321Leu)	HRG (P321L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2532857	NM_001394154.1(RGS12):c.2906C>T (p.Pro969Leu)	RGS12 (P168L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 568136	NM_173660.5(DOK7):c.962C>T (p.Pro321Leu)	DOK7 (P321L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 350207	NM_020041.3(SLC2A9):c.1049C>T (p.Pro350Leu)	SLC2A9 (P350L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2218995	NM_178556.5(TRIML1):c.962C>T (p.Pro321Leu)	TRIML1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1054710	NM_006846.4(SPINK5):c.962C>T (p.Pro321Leu)	SPINK5 (P321L)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2500230	NM_016222.4(DDX41):c.962C>T (p.Pro321Leu)	DDX41 (P195L +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2381813	NM_022762.5(RMND5B):c.962C>T (p.Pro321Leu)	RMND5B (P321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2892336	NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)	FOXC1 (P321L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3216027	NM_001374623.1(PNPLA1):c.1220C>T (p.Pro407Leu)	PNPLA1 (P312L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177631	NM_001350562.2(TJAP1):c.962C>T (p.Pro321Leu)	TJAP1 (P270L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398928	NM_001350562.2(TJAP1):c.1115C>T (p.Pro372Leu)	TJAP1 (P362L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1999923	NM_014989.7(RIMS1):c.2585C>T (p.Pro862Leu)	RIMS1 (P313L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3211939	NM_001100164.2(PHACTR2):c.962C>T (p.Pro321Leu)	PHACTR2 (P241L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345397	NM_214462.5(DACT2):c.962C>T (p.Pro321Leu)	DACT2 (P321L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 852432	NM_001031710.3(KLHL7):c.1106C>T (p.Pro369Leu)	KLHL7 (P369L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306681	NM_000501.4(ELN):c.992C>T (p.Pro331Leu)	ELN (P287L +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GUncertain significance
Select item 2252227	NM_001195220.2(ZNF783):c.962C>T (p.Pro321Leu)	ZNF783 (P321L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095042	NM_022749.7(FHIP2B):c.1136C>T (p.Pro379Leu)	FHIP2B (P378L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2091224	NM_002546.4(TNFRSF11B):c.962C>T (p.Pro321Leu)	TNFRSF11B (P321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 366861	NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)	GRHPR (P321L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2532030	NM_032012.4(TMEM245):c.962C>T (p.Pro321Leu)	TMEM245 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 94116	NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)	STXBP1 (P335L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 426799	NM_000093.5(COL5A1):c.962C>T (p.Pro321Leu)	COL5A1 (P321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267249	NM_014811.5(PPP1R26):c.962C>T (p.Pro321Leu)	PPP1R26 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780842	NM_014866.2(SEC16A):c.962C>T (p.Pro321Leu)	SEC16A (P321L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2411569	NM_002189.4(IL15RA):c.704C>T (p.Pro235Leu)	IL15RA (P199L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1445627	NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu)	DHTKD1 (P321L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2352427	NM_003473.4(STAM):c.1295C>T (p.Pro432Leu)	STAM (P321L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 46512	NM_001384140.1(PCDH15):c.947C>T (p.Pro316Leu)	PCDH15 (P316L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590664	NM_015221.4(DNMBP):c.962C>T (p.Pro321Leu)	DNMBP, DNMBP-AS1 (P321L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 67027	NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)	KCNQ1 (P448L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 2529650	NM_001352389.2(STK33):c.962C>T (p.Pro321Leu)	STK33 (P134L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207136	NM_145117.5(NAV2):c.962C>T (p.Pro321Leu)	NAV2 (P257L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305989	NM_174902.4(LDLRAD3):c.962C>T (p.Pro321Leu)	LDLRAD3 (P272L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 985699	NM_012309.5(SHANK2):c.2726C>T (p.Pro909Leu)	SHANK2 (P321L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075704	NM_001377.3(DYNC2H1):c.962C>T (p.Pro321Leu)	DYNC2H1 (P321L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2610369	NM_001301098.2(ZBTB44):c.962C>T (p.Pro321Leu)	ZBTB44 (P321L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 959865	NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu)	PEX5 (P321L +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 2557337	NM_018050.4(MANSC1):c.962C>T (p.Pro321Leu)	MANSC1 (P287L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313528	NM_001286176.2(C2CD5):c.989C>T (p.Pro330Leu)	C2CD5 (P330L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2154875	NM_006531.5(IFT88):c.1037C>T (p.Pro346Leu)	IFT88 (P321L +6 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 1000397	NM_018191.4(RCBTB1):c.962C>T (p.Pro321Leu)	RCBTB1 (P128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 241314	NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)	FANCM (P347L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 2518156	NM_001079520.2(DACT1):c.851C>T (p.Pro284Leu)	DACT1 (P284L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215073	NM_020715.3(PLEKHH1):c.962C>T (p.Pro321Leu)	GPHN, PLEKHH1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596583	NM_138790.5(PLD4):c.941C>T (p.Pro314Leu)	PLD4 (P314L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464978	NM_015307.2(ENTREP2):c.1250C>T (p.Pro417Leu)	ENTREP2 (P372L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351345	NM_001284292.2(NUTM1):c.1046C>T (p.Pro349Leu)	LOC126862098, NUTM1 (P321L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787116	NM_003710.4(SPINT1):c.962C>T (p.Pro321Leu)	SPINT1 (P337L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 435157	NM_001113378.2(FANCI):c.1241C>T (p.Pro414Leu)	FANCI (P414L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333070	NM_053284.3(WFIKKN1):c.962C>T (p.Pro321Leu)	WFIKKN1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1409002	NM_000548.5(TSC2):c.962C>T (p.Pro321Leu)	TSC2 (P121L +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 254123	NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)	NPIPA5 (P321L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3076760	NM_152727.6(CPNE2):c.962C>T (p.Pro321Leu)	CPNE2 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2869777	NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)	ACD (P321L +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 3076788	NM_153636.3(CPNE7):c.962C>T (p.Pro321Leu)	CPNE7 (P396L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1019217	NM_014336.5(AIPL1):c.1028C>T (p.Pro343Leu)	AIPL1 (P280L +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 2382814	NM_014964.5(EPN2):c.1133C>T (p.Pro378Leu)	EPN2 (P378L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489237	NM_138328.3(RHBDL3):c.986C>T (p.Pro329Leu)	RHBDL3 (P268L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1999192	NM_007294.4(BRCA1):c.4472C>T (p.Pro1491Leu)	BRCA1 (P1322L +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1692971	NM_007294.4(BRCA1):c.4406C>T (p.Pro1469Leu)	BRCA1 (P1422L +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1481377	NM_007294.4(BRCA1):c.4391C>T (p.Pro1464Leu)	BRCA1 (P1485L +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1739278	NM_007294.4(BRCA1):c.4274C>T (p.Pro1425Leu)	BRCA1 (P1256L +58 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2648671	NM_001386795.1(DTNA):c.962C>T (p.Pro321Leu)	DTNA (P321L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2359471	NM_001278669.2(NFATC1):c.2378C>T (p.Pro793Leu)	NFATC1 (P793L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213933	NM_002741.5(PKN1):c.962C>T (p.Pro321Leu)	PKN1 (P327L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374717	NM_052852.4(ZNF486):c.962C>T (p.Pro321Leu)	ZNF486 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1377553	NM_017636.4(TRPM4):c.962C>T (p.Pro321Leu)	TRPM4 (P147L +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2382982	NM_182572.4(ZSCAN1):c.962C>T (p.Pro321Leu)	ZSCAN1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357246	NM_015937.6(PIGT):c.1130C>T (p.Pro377Leu)	PIGT (P321L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2351614	NM_001037335.2(HELZ2):c.962C>T (p.Pro321Leu)	HELZ2 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1389294	NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu)	RTEL1, RTEL1-TNFRSF6B (P297L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance

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